26
•Homework #2 is due now •Bonus #1 is due 10/24
bullHomework 2 is due nowbullBonus 1 is due 1024
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Fig 1313
Map of human chromosome 20
How does the organization of a genome affect its function
Some genes have several similar sequences within the genome known as a gene family
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Different members of the hemoglobin gene family are expressed at different developmental stages
Fig 1917
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Fig 1918
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
From ldquoBiology 7th edrdquo by Campbell et alfig 1914
Fig 1413
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
httpwwwncbinlmnihgovmapviewmapscgiORG=humanampCHR=XampMAPS=ideogr[XpterXqter]genes[10015369239100]
Fig 1313
Map of human chromosome 20
How does the organization of a genome affect its function
Some genes have several similar sequences within the genome known as a gene family
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Different members of the hemoglobin gene family are expressed at different developmental stages
Fig 1917
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Fig 1918
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
From ldquoBiology 7th edrdquo by Campbell et alfig 1914
Fig 1413
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Some genes have several similar sequences within the genome known as a gene family
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Different members of the hemoglobin gene family are expressed at different developmental stages
Fig 1917
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Fig 1918
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
From ldquoBiology 7th edrdquo by Campbell et alfig 1914
Fig 1413
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Hemoglobin (carries O2 in the blood) is comprised of a gene family in humans
Different members of the hemoglobin gene family are expressed at different developmental stages
Fig 1917
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Fig 1918
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
From ldquoBiology 7th edrdquo by Campbell et alfig 1914
Fig 1413
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Different members of the hemoglobin gene family are expressed at different developmental stages
Fig 1917
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Fig 1918
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
From ldquoBiology 7th edrdquo by Campbell et alfig 1914
Fig 1413
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Fetal Hb binds O2 more strongly than maternal Hb
Pseudogenes have the structure of a gene but are not expressed
Fig 1918
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
From ldquoBiology 7th edrdquo by Campbell et alfig 1914
Fig 1413
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Pseudogenes have the structure of a gene but are not expressed
Fig 1918
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
From ldquoBiology 7th edrdquo by Campbell et alfig 1914
Fig 1413
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679andWhich transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Transposons mobile DNA
Transposons comprise much of human DNA
From ldquoBiology 7th edrdquo by Campbell et alfig 1914
Fig 1413
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Transposons mobile DNA
Transposons comprise much of human DNA
From ldquoBiology 7th edrdquo by Campbell et alfig 1914
Fig 1413
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Transposons comprise much of human DNA
From ldquoBiology 7th edrdquo by Campbell et alfig 1914
Fig 1413
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Fig 1413
Retro-transposons move via an RNA intermediate
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 1 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Humans and chimpanzees shared a common ancestor about 6 million years ago
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
human
chimp
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Tbl 2 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Fig 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
What affect do transposons have in humans
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Fig 3 Recently Mobilized Transposons in the Human and Chimpanzee Genomes (2006) Ryan E Mills et al The American Journal of Human Genetics 78 671-679
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Does transposition cause disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
The coding capacity of L1 was not fully recognized until an active copy with intact ORFs lsquojumpedrsquo into the factor VIII gene and caused hemophilia
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Diseases caused by transposon insertion
bullDuchenne muscular dystrophy
bullCoffin-Lowry syndrome
bullFukuyama-type congenital muscular dystrophy (FCMD)
bullcolon cancer
bullchronic granulomatous disease
bullX-linked dilated cardiomyopathy
bullfamilial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
bullneurofibromatosis type 1
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Active human transposons have been estimated to generate about one new insertion per 10ndash100 live births
Which transposons are mobile
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
QuickTimetrade and aTIFF (Uncompressed) decompressor
are needed to see this picture
Comparative genomics also has been used to identify recently mobilized transposons in genetically diverse humans For example over 600 recent transposon insertions were identified by examining DNA resequencing traces from 36 genetically diverse humans
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Tbl 1 Which transposable elements are active in the human genome (2007) Ryan E Mills et al Trends in Genetics 23 183-191
Which transposons are mobile
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
Conclusions
bullTransposons may play a role in evolution
bullMore abundant transposons in humans show ldquorecentrdquo transposon activity
bullTransposons are still active and can cause mutations and disease
