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Genes, peoples, and languages
across the Western Mediterranean
David ComasUnitat de Biologia EvolutivaUniversitat Pompeu Fabra
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Sahara Desert
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Objectives
Elucidate the genetic structure of
NW African and SW European populations
Compare the genetic composition
of both Mediterranean shores
Detect possible sub-Saharan
Africa admixture in NW Africa
Compare the genetic composition of
Berber and Arab populations in NW Africa
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Genetic markers
Classical polymorphisms: proteins
Autosomal markers: STRs, Alu insertions
Uniparental markers: Y-chromosome and mtDNA
DNA markers
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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%)
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Classical genetic markers in North Africa
First Principal Component (36.5%)
Bosch E, Calafell F, Prez-Lezaun A, Comas D, Mateu E, Bertranpetit J (1997)Population history of North Africa: evidence from classical genetic markersHum Biol69: 295-311
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Simoni L, Gueresi P, Pettener D, Barbujani G (1999)Patterns of gene flow inferred from genetic distances in the Mediterranean regionHum Biol71:399-415
Classical genetic markers in the Mediterranean
Sharpest genetic boundaries
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From Arnaiz-Villena and Martnez-Laso (1997)Origen de ibricos, vascos y argelinosInvestigacin y Ciencia
A30-B18-DR3
A1-B8-DR3A29-B44-DR7A1-B57-DQ2A11-B27-DR1
A30-B18-DR3A1-B8-DR3A29-B44-DR7A33-B14-DR1
A30-B18-DR3
A33-B14-DR1A1-B57-DQ2A2-B35-DR11
Classical genetic markers: HLA evidence
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91 41
78
8090
6635
Neighbor-joining tree based on 7 HLA loci
Comas D, Mateu E, Calafell F, Prez-Lezaun A, Bosch E, Martnez-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
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PORTUGUESE
BASQUESCATALANS
ANDALUSIANS
MOZABITES
NC
BERBERS
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)nCSF1PO (AGAT)n
(GATA)n(GATA)n
(GATA)n
(GATA)n(GATA)
n(AGAT)n(AAAG)n
(ATTT)n(GATA)n
D11S2010
D13S767
D14S306
D18S848
D2S1328
D4S243
F13A1
FES / FPS
D9S926
21STRs
AACTTGCTAAGATAGATAGATAGATAGATAGCGCGCC
AACTTGCTAAGATAGATAGATAGATAGCGCGCC
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-30
-20
-10
0
10
20
30
40
-60 -40 -20 0 20 40 60
75%AFRICANAMERICANS
MOZABITES
SAHARAWI
ARABS
NCBERBERS
SO
BERBERS
ANDALUSIANS
PORTUGUESE
ITALIANS
EUROPEAN
AMERICANS
CATALANS
BASQUES
Bosch E, Calafell F, Prez-Lezaun A, Clarimn J, Comas D, Mateu E, Martnez-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)
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Alu insertion polymorphisms
BASQUESCATALANS
ANDALUSIANS
ALGERIANSN. MOROCCANSW. MOROCCANS
SE. MOROCCANS
SAHARAWI
TUNISIANS
Alu element
Alu element
A25 ACE APO B65 D1 FXIIIB PV92 TPA25 HS243 HS323 HS465
11 Alu insertion polymorphisms
-/- +/- +/+
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0
10
20
30
40
50
60
70
80
90
100
A25
ACE
APO
B65
D1
FXIIIB
PV92
TPA25
HS243
HS323
HS465
Basque
Catalan
Andalusian
Saharawi
E.MoroccanW.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
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Basque
AndalusianCatalan
NorthernMoroccan
WesternMoroccan S. Eastern
Moroccan
SaharawiTunisian
Algerian
98.7
60.4
60.4
85.728.9
46.3
Neighbor-joining tree
of populations
11 Alu insertion loci
1,000 bootstrap iterations
NW Africans
Iberians
Alu insertion polymorphisms
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S.EasternMoroccan
Saharawi
WesternMoroccan
Catalan
Andalusian
Basque
Northern
MoroccanTunisian
Algerian
First PC (48.0%)
S
econdPC(20.8%)
Principal component analysis of the Alu insertion frequencies
Alu insertion polymorphisms
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!Kung
Nguni
Bantu
SEMoroccansSaharawi
Algerians
85.882.9
96.9
1,000 bootstrap iterations
Sub-Saharans
NW Africans
Europeans
Alu insertion polymorphisms
Neighbor-joining tree
of populations
11 Alu insertion loci
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First PC (44.9%)
SecondPC(2
4.2
%)
Principal component analysis of the Alu insertion frequencies
Alu insertion polymorphisms
Sub-Saharans
NW Africans
Europeans
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?
3 individuals: 2 Basques and 1 Northern Moroccan
Alu insertion polymorphisms
Larger Alu insertion in PV92 locus
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Alu element
Alu 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
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Alu insertion polymorphisms
Larger Alu insertion in PV92 locus
3 individuals: 2 Basques and 1 Northern Moroccan
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Uniparental markers: Y-chromosome and mtDNA
mtDNA
autosomes
Y chromosome
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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-greatgrandparents
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Uniparental markers: Y-chromosome and mtDNA
Y Adam and mtDNA Eve
2
3
4
5
6
7
8
1
generations
MRCA
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Uniparental markers: Y-chromosome and mtDNA
mtDNA phylogenyY-chromosome phylogeny
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Uniparental markers: Y-chromosome and mtDNA
Phylogeography: ex. Y-chromosome
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Uniparental markers: Y-chromosome and mtDNA
Gender specific behaviours
Patrilocality: females aremore likely to move from their
birthplace upon marriage thanmales
Polygyny: certain men father a
disproportionately large numberof children compared to other men
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Y-chromosome lineages
BASQUESCATALANS
ANDALUSIANS
NC
BERBERS
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 discontinuity
and limited gene flow between Northwestern Africa and the Iberian PeninsulaAm J Hum Genet 68: 1019-1029
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E3a*
Y-chromosome lineages
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E3b2
Y-chromosome lineages
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F*
Y-chromosome lineages
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R1*
Y-chromosome lineages
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Y-chromosome lineages
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Iberian Peninsula
NW Africa
North African Paleolithic substrate 75%
Sub-Saharan
genetic flow 8%
North African genetic flow 5.2%
Neolithic contribution 16.4%
Neolithic
contribution
13.6%
European Paleolithic
substrate78.4%
Iberian genetic
flow 2.8%
Y-chromosome lineages
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Mauritanians
Saharawis
SBerbers
MArabsNBerbers
Mozabites
Algerians
Tunisians
SItalians
CItalians
Tuscans
Sardinians
CatalansBasques
Galicians
ValenciansAndalusians
Central SpainNPortuguese
CPortuguese
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 Mediterranean
Ann Hum Genet 67: 312-328
HVS I Control Region
+ 4 SNPs Coding Region 10400
12308
12705
10873
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mtDNA haplogroups defined by
control region sequences
and coding polymorphisms
Mitochondrial lineages
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Mitochondrial lineages
First principal co-ordinate (55.4%)
.8.6.4.20-.2-.4
Secondprincipalco-or
dinate(12.7
%)
.8
.6
.4
.2
-.0
-.2
-.4
-.6
Valencians
CSCI SPort
Central Portuguese
North
Portuguese
Portuguese
Galicians
Basques
Catalans
AndTus
South
Italians
SicSard
Mauritanians
Saharawi
SBerbersM Arabs
M Berbers
Mozabites
Algerians
Tunisians
Plot of the two principal co-ordinate scores based on genetic distances
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L1L2
L3
Haplogroup L
Mitochondrial lineages
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U/K
U6
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
355
145
311
051
Italians
IberiansNorth Africans
U6b
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H
V
HV
Mitochondrial lineages
Haplogroup H and V
153
189
075
240
259
183
189254216140
291
249
362298
256
304
235
153093
259037264
086172 344
311129
242
124
319
039240
261
169
339
265
129
Italians
Iberians
North Africans
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M1
Mitochondrial lineages
Haplogroup M
M5
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Mitochondrial lineages
Sened
Matmata
Chenini-Douiret
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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
L1 L3
UH
M1X
J
Other
N K
I
T
HV
J/T
Mozabites C.Moroccan2
Mauritanians
Tuareg
Saharawi
Moroccan
S.Moroccan
MatmataAlgerian
SenedTunisian
C.Moroccan1
Egyptians Chenini-Douiret
mtDNA haplogroup
Arab
Berber
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
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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
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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
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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
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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
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Western Mediterranean populations: Conclusions
4) Greater heterogeneity in NW Africa
Genetic drift in isolated populations
Differential genetic admixture
Population sampling bias ?
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Genes, peoples, and languages
across the Western Mediterranean
David ComasUnitat de Biologia EvolutivaUniversitat Pompeu Fabra