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Genes, peoples, and languagesacross the Western Mediterranean
David ComasUnitat de Biologia EvolutivaUniversitat Pompeu Fabra
Sahara Desert
Objectives
Elucidate the genetic structure ofNW African and SW European populations
Compare the genetic compositionof both Mediterranean shores
Detect possible sub-SaharanAfrica admixture in NW Africa
Compare the genetic composition ofBerber and Arab populations in NW Africa
Genetic markers
Classical polymorphisms: proteins
Autosomal markers: STRs, Alu insertions
Uniparental markers: Y-chromosome and mtDNA
DNA markers
Cavalli-Sforza LL, Menozzi P, Piazza A (1994). The history and geography of human genes
Classical genetic markers in Europe
First Principal Component (28.1%)
Classical genetic markers in North Africa
First Principal Component (36.5%)
Bosch E, Calafell F, Pérez-Lezaun A, Comas D, Mateu E, Bertranpetit J (1997)Population history of North Africa: evidence from classical genetic markersHum Biol 69: 295-311
Simoni L, Gueresi P, Pettener D, Barbujani G (1999)Patterns of gene flow inferred from genetic distances in the Mediterranean regionHum Biol 71:399-415
Classical genetic markers in the Mediterranean
Sharpest genetic boundaries
From Arnaiz-Villena and Martínez-Laso (1997) Origen de ibéricos, vascos y argelinosInvestigación y Ciencia
A30-B18-DR3A1-B8-DR3A29-B44-DR7A1-B57-DQ2A11-B27-DR1
A30-B18-DR3A1-B8-DR3A29-B44-DR7A33-B14-DR1
A30-B18-DR3A33-B14-DR1A1-B57-DQ2A2-B35-DR11
Classical genetic markers: HLA evidence
91 41
7880
9066
35
Neighbor-joining tree based on 7 HLA loci
Comas D, Mateu E, Calafell F, Pérez-Lezaun A, Bosch E, Martínez-Arias R, Bertranpetit J (1998)HLA class I and class II DNA typing and the origin of Basques. Tissue Antigens 51: 30-40
Classical genetic markers: HLA evidence
PORTUGUESE
BASQUESCATALANS
ANDALUSIANS
MOZABITES
NCBERBERS
ARABS
SO BERBERS
SAHARAWI
Autosomal STRs (Short Tandem Repeats)D3S1358 (TCTA)n
vWA* (TCTA)n
FGA (CTTT)n
D8S1179 (TCTA/G)n
D21S11 (TCTG/TA)n
D18S51 (AGAA)n
D5S818*(AGAT)n
D13S317 (GATA)n
D7S820*(GATA)n
TH01 (CATT)n
TPOX (AATG)n
CSF1PO (AGAT)n
(GATA)n
(GATA)n (GATA)n
(GATA)n
(GATA)n
(AGAT)n
(AAAG)n
(ATTT)n
(GATA)n
D11S2010D13S767D14S306D18S848D2S1328D4S243F13A1FES / FPSD9S926
21STRs
AACTTGCTAAGATAGATAGATAGATAGATAGCGCGCC
AACTTGCTAAGATAGATAGATAGATAGCGCGCC
-30
-20
-10
0
10
20
30
40
-60 -40 -20 0 20 40 60
75%
AFRICANAMERICANS
MOZABITES
SAHARAWI
ARABS
NCBERBERS
SOBERBERS
ANDALUSIANS
PORTUGUESE
ITALIANS
EUROPEANAMERICANS
CATALANS
BASQUES
Bosch E, Calafell F, Pérez-Lezaun A, Clarimón J, Comas D, Mateu E, Martínez-Arias R,Morera B, Brakez Z, Akhayat O, Sefiani A, Hariti G, Cambon-Thomsen A, Bertranpetit J (2000)Genetic structure of north-west Africa revealed by STR analysis. Eur J Hum Genet 8: 360-366
Autosomal STRs (Short Tandem Repeats)
Alu insertion polymorphisms
BASQUESCATALANS
ANDALUSIANS
ALGERIANSN. MOROCCANSW. MOROCCANS
SE. MOROCCANS
SAHARAWI
TUNISIANS
Alu elementAlu element
Alu element
A25 ACE APO B65 D1 FXIIIB PV92 TPA25 HS243 HS323 HS465
11 Alu insertion polymorphisms
-/- +/- +/+
0
10
20
30
40
50
60
70
80
90
100A
25
ACE
APO
B65
D1
FX
IIIB
PV92
TPA
25
HS
243
HS
323
HS
465
Basque
Catalan
Andalusian
Saharawi
E.Moroccan
W.Moroccan
N.Moroccan
Algerian
Tunisian
Comas D, Calafell F, Benchemsi N, Helal A, Lefranc G, Stoneking M, Batzer MA, Bertranpetit J,Sajantila A (2000). Alu insertion polymorphisms in NW Africa and the Iberian Peninsula:evidence for a strong genetic boundary through the Gibraltar Straits. Hum Genet 107:312-319
Alu insertion polymorphisms
Basque
AndalusianCatalan
NorthernMoroccan
WesternMoroccan S. Eastern
Moroccan
SaharawiTunisian
Algerian
98.7
60.4
60.4
85.728.9
46.3
Neighbor-joining treeof populations
11 Alu insertion loci
1,000 bootstrap iterations
NW AfricansIberians
Alu insertion polymorphisms
S.EasternMoroccan
Saharawi
WesternMoroccan
Catalan
Andalusian
Basque
NorthernMoroccan
Tunisian
Algerian
First PC (48.0%)
Sec
ond
PC
(20
.8%
)
Principal component analysis of the Alu insertion frequencies
Alu insertion polymorphisms
!Kung
Nguni
Bantu
SEMoroccansSaharawi
Algerians
Tuni
sian
s
WM
oroc
cans
NMor
occa
nsCat
alan
s
Sw
issB
reto
ns
French
BasquesAnd
alus
ians
85.882.9
96.9
1,000 bootstrap iterations
Sub-SaharansNW AfricansEuropeans
Alu insertion polymorphisms
Neighbor-joining treeof populations
11 Alu insertion loci
First PC (44.9%)
Sec
ond
PC
(24
.2%
)
Principal component analysis of the Alu insertion frequencies
Alu insertion polymorphisms
Sub-SaharansNW AfricansEuropeans
??3 individuals: 2 Basques and 1 Northern Moroccan
Alu insertion polymorphisms
Larger Alu insertion in PV92 locus
Alu element
Alu elementAlu element
Alu element
Alu insertion polymorphisms
Larger Alu insertion in PV92 locus
Comas D, Plaza S, Calafell F, Sajantila A, Bertranpetit J. (2001)Recent insertion of an Alu element within a polymorphic human-specific Alu insertion.Mol Biol Evol 18:85-88
Alu insertion polymorphisms
Larger Alu insertion in PV92 locus
3 individuals: 2 Basques and 1 Northern Moroccan
Uniparental markers: Y-chromosome and mtDNA
mtDNA
autosomes
Y chromosome
Uniparental markers: Y-chromosome and mtDNA
Five generations
MALE
FEMALE
16 Great-greatgrandparents
Son
FatherMother
4 Grand-parents
8 Great-grand-Parents 32 Great
great-great grandparents
Uniparental markers: Y-chromosome and mtDNA
Y Adam and mtDNA Eve
2
3
4
5
6
7
8
1genera
tions
MRCA
Uniparental markers: Y-chromosome and mtDNA mtDNA phylogenyY-chromosome phylogeny
Uniparental markers: Y-chromosome and mtDNA
Phylogeography: ex. Y-chromosome
Uniparental markers: Y-chromosome and mtDNA
Gender specific behaviours
Patrilocality: females are more likely to move from their birthplace upon marriage than males
Polygyny: certain men father a disproportionately large number of children compared to other men
Y-chromosome lineages
BASQUESCATALANS
ANDALUSIANS
NCBERBERS
ARABS
SO BERBERS
SAHARAWI
DYS388 DYS19 DYS390 DYS391 DYS392 DYS393 DYS389I DYS389II
+ 8 STRs44 binary
Bosch E, Calafell F, Comas D,Oefner PJ, Underhill P, Bertranpetit J (2001)High-resolution analysis of human Y-chromosome variation shows a sharp discontinuityand limited gene flow between Northwestern Africa and the Iberian PeninsulaAm J Hum Genet 68: 1019-1029
E3a*
Y-chromosome lineages
E3b2
Y-chromosome lineages
F*
Y-chromosome lineages
R1*
Y-chromosome lineages
Y-chromosome lineages
Iberian Peninsula
NW Africa
North African Paleolithic substrate 75%
Sub-Saharangenetic flow 8%
North African genetic flow 5.2%
Neolithic contribution 16.4%
Neolithiccontribution 13.6%
European Paleolithicsubstrate78.4%
Iberian geneticflow 2.8%
Y-chromosome lineages
Mauritanians
Saharawis
SBerbers
MArabsNBerbers
Mozabites
Algerians
Tunisians
SItalians
CItalians
Tuscans
Sardinians
CatalansBasquesGalicians
ValenciansAndalusians
Central SpainNPortugueseCPortuguese
SPortuguese
Portuguese
Sicilians
Mitochondrial lineages
Plaza S, Calafell F, Helal A, Bouzerna, Lefranc G, Bertranpetit J, Comas D (2003)Joining the Pillars of Hercules: mtDNA sequences show multidirectional gene flow in the Western MediterraneanAnn Hum Genet 67: 312-328
HVS I Control Region+ 4 SNPs Coding Region 10400
12308
12705
10873
mtDNA haplogroups defined bycontrol region sequencesand coding polymorphisms
Mitochondrial lineages
Mitochondrial lineages
First principal co-ordinate (55.4%)
.8.6.4.20-.2-.4
Sec
ond
prin
cipa
l co-
ordi
nate
(12
.7%
).8
.6
.4
.2
-.0
-.2
-.4
-.6
ValenciansValencians
CSCSCICI SPortSPort
Central PortugueseCentral Portuguese
NorthNorthPortuguesePortuguese
PortuguesePortuguese
GaliciansGalicians
BasquesBasques
CatalansCatalans
AndAndTusTus
SouthSouthItaliansItalians
SicSicSardSard
MauritaniansMauritanians
SaharawiSaharawi
SBerbersSBerbers M ArabsM Arabs
M BerbersM Berbers
MozabitesMozabites
AlgeriansAlgerians
TunisiansTunisians
Plot of the two principal co-ordinate scores based on genetic distances
L1L1L2L2L3L3
Haplogroup L
Mitochondrial lineages
U/KU/KU6U6
Mitochondrial lineages
Haplogroup U/K
180
278
311 290
311
278
261174
188
163
164
129
271
222
239
311
172
297
111
293180
189
359182
192
235
355145
311
051
ItaliansIberians
North Africans
U6b
HH
VV
HVHV
Mitochondrial lineages
Haplogroup H and V
153
189
075
240
259
183
189254216140291
249
362298
256
304
235
153093
259037264086
172 344311
129
242
124
319
039240
261
169
339
265129
218
239
ItaliansIberians
North Africans
M1M1
Mitochondrial lineages
Haplogroup M
MM55
Mitochondrial lineages
Sened
Matmata
Chenini-Douiret
Mitochondrial lineages
-3,0
-2,0
-1,0
0,0
1,0
2,0
3,0
-2,0 -1,0 0,0 1,0 2,0
W
U6V
L2
L1L3
UH
M1X
J
Other
N K
I
T
HV
J/T
Mozabites C.Moroccan2
Mauritanians
Tuareg
Saharawi
MoroccanS.Moroccan
MatmataAlgerian
Sened Tunisian
C.Moroccan1
Egyptians Chenini-Douiret
mtDNA haplogroupArabBerber
Fadhlaoui-Zid K, Plaza S, Calafell F, Ben Amor M, Comas D, Bennamar El Gaaied A (2004)Mitochondrial heterogeneity in Tunisian Berbers. Ann Hum Genet 68: 222-233
Correspondence analysis based on haplogroup frequencies
Mitochondrial lineages
Arabs 1.54** 98.46
Berbers 6.24** 93.76
Analysis of the molecular variance (AMOVA)
ns not significat** p < 0.01
Fadhlaoui-Zid K, Plaza S, Calafell F, Ben Amor M, Comas D, Bennamar El Gaaied A (2004)Mitochondrial heterogeneity in Tunisian Berbers. Ann Hum Genet 68: 222-233
All populations 4.14** 95.86
Arabs-Berbers -0.21 ns 4.25** 95.95
Groups Among groups Among populations Within populations
1) Clear genetic difference between NW Africa and SW Europe
The Palaeolithic and Neolithic may have run in parallel along the two shores
Gibraltar Straits may have acted as a geographical barrier
Little genetic impact in Iberia of Arab occupation
Western Mediterranean populations: Conclusions
2) Sub-Saharan flow detected in some NW African samples
Continuous gene flow through the Sahara desert
South-north gradient of sub-Saharan admixture
Western Mediterranean populations: Conclusions
3) No differences between Berber and Arab samples
Arabisation in the Maghreb (7th and 11th C A.D.):
Cultural replacement with little demographic impact
Western Mediterranean populations: Conclusions
Western Mediterranean populations: Conclusions
4) Greater heterogeneity in NW Africa
Genetic drift in isolated populations
Differential genetic admixture
Population sampling bias ?
Genes, peoples, and languagesacross the Western Mediterranean
David ComasUnitat de Biologia EvolutivaUniversitat Pompeu Fabra