•Katrina Gross•Jessica O’Connell•LaVon Martin•Gennaro Ricci

What is genetics?Genetics is the science of heredity, dealing

with resemblances and differences of related organisms resulting from the interaction of their genes and the environment.

Types of Geneticshuman genetics mouse genetics fruitfly genetics

Human GeneticsDefinition: The study of the genetic aspects of humans as a species

Human Genetics does not apply directly to medicine.

Patterns in Human GeneticsWidow’s PeakFacial DimplesAble To TasteUnattached EarlobeFrecklesCleft ChinWet-type Earwax

Mouse GeneticsHumans and mice may look very different but,

being mammals, they share many common features.

For over 50 years, the Mouse Genetics Research Facility (MGRF) at Oak Ridge National Laboratory (ORNL) has attracted a highly qualified staff of mouse geneticists and molecular biologists who use its standard and mutant strains of laboratory mice for basic research in analyzing gene function and identifying mouse models of human genetic disease. http://www.ornl.gov/sci/mgrf/

From Athletics to the musical talent

AthleticsHermine Maes( a geneticist)

who conducted a study of 105 pairs of 10-year-old twins determine what range of fitness you can expect

yourself to end up in Ex: If you want to be a top athlete, for instance, you had

better have a pretty good set of genes. She determined that approximately 75 percent of a

child's ability to pull weights with the arms and to do bent-arm hangs, two-thirds of a child's vertical-jumping ability, and two-thirds of a male child's aerobic capacity (and 90 percent of a female child's capacity) are related to heredity.

We don't like the idea that genetics determines destiny, but most of us have to admit that body type predetermines success in many sports.

http://www.onlinesports.com/sportstrust/creative10.html

When is a good time to be a runner?Many of Britain's top sprinters were

born in the summer and, perhaps even more strikingly, most of Britain's best long distance men were born in the winter.

http://www.pponline.co.uk/encyc/0662.htm

Genetics and Athletic PerformanceGenetics influence:

strength muscle size muscle fiber composition (fast or slow twitch)lung capacity flexibilityEndurance

http://sportsmedicine.about.com/od/anatomyandphysiology/a/genetics.htm

Limitations of Endurance AthletesCardiac capacity:

the heart’s ability to deliver enough oxygen (via the bloodstream) to the working skeletal muscles

largely determined by geneticsMuscles effective use of oxygen and ATP:

ATP - fuel that allows muscular contraction and movement

Genetically gifted athletes = large number of mitochondria in cells. (The mitochondria (organelles in cells) = production of ATP).

AthleticsACTN3

A gene recently proclaimed “athletic gene” Responsible for the production of alpha actinin-3Actinin-3 is found in fast-twitch muscles Allows muscles the ability to generate a greater amount of

force at higher velocities of movement. In other words, this gene allows you to run faster, jump higher, and hit harder.

The production of ACTN3 is the result of an individual possessing at least one copy of the R577R allele.

The alternate allele to R577R is R577X, which harbors a premature stop codon, preventing the formation of actinin-3.

http://www.bio.davidson.edu/Courses/genomics/2004/Farrow/favoritegene3.html

What is MCT1?Mct1 (protein)

Location? Chromosome #1Function?

Transports lactate into muscle cells Affects response to physical training and endurance

performance Examples:

Sprinting, sprint after sprint Swimming laps in repetition Weight Training

http://www.blah.com

Anti-depressantsNow the process of choosing an

antidepressant may be easierThis test, called the cytochrome P450

(CYP450) genotyping testmay help find out affects before swallowing a

pillThe CYP450 test = how your body metabolizes

certain medications

Enzyme build up = slow reaction

Have you had your CYP3A test lately?CYP3A5 (protein)Family: CYP3AFunction:

breaks 50% of clinical drugsAffect the body in break down of contaminants

(molds, animal feeds, peanuts) Variation in expression = different reactions to

different drugs Break down not productive = DNA damage

http://www.jstor.org/view/00916765/ap060247/06a00090/0

Are you an alcoholic?Chromosome 15

alcohol dependence in gene GABRG3dopamine D2 receptor, found to be present more often

in alcoholics than in non-alcoholicsSome researchers believe dopamine D2 might modulate

the severity of alcoholism, rather than serve as a primary cause.

The DRD2 gene appears to influence the 'high' that people derive from drugs such as alcohol. 2

http://alcoholism.about.com/cs/alerts/l/blnaa18.htm

Could your drinking habits be because of your genes?

Young AlcoholicsChildren of alcoholics are four times more

likely than other children to become alcoholics children of alcoholics are more likely to have a

low level of response than others1

2Alcoholism:Chromosome 10

KCNMA1

Smoking is genetic?

Are you destined to smoke?evidence suggests some are "born to smoke"

These are those who are inherently more sensitive to the effects of nicotine

University of Michigan Medical School, suggest that one in three kids who sample a cigarette will become lifetime customers.

This makes it critical to reduce the number of teens who try that critical "first" smoke

To smoke or not? Or people carrying a particular version of the

dopamine transporter gene (SLC6A3-9) are less likely to start smoking before the age of 16 and are more likely to be able to quit smoking if they start

current smokers and former smokers that the SLC6A3-9 gene was associated with certain personality characteristics that influenced a person's susceptibility of being able to start and stop smoking.

individuals who have the SLC6A3-9 gene were one and a half times more likely to have quit smoking than individuals lacking this gene

Singing and Genetics

Singing and GeneticsVoices come in a variety of sizes.If you have a small larynx, then your voice

will be high-pitched. If you wind up with a super-sized larynx, your voice will be able to produce pitches much lower than the average bear can bellow.

Perfect pitch?“nature” aspect to perfect pitch

a person with this trait is four times more likely to have a family member with perfect pitch compared to the general population

People with disorders like autism and Williams syndrome often have perfect pitch and great musical talent, even though they are incapable of simple math. Why or how this happens is unclear.