Transcript Genes, peoples, and languages across the Western Mediterranean David Comas Unitat de Biologia Evolutiva Universitat Pompeu Fabra Barcelona [email protected].

Genes, peoples, and languages
across the Western Mediterranean
David Comas
Unitat de Biologia Evolutiva
Universitat Pompeu Fabra
Barcelona
[email protected]
Sahara Desert
Objectives
Elucidate the genetic structure of
NW African and SW European populations
Compare the genetic composition
of both Mediterranean shores
Compare the genetic composition of
Berber and Arab populations in NW Africa
Detect possible sub-Saharan
Africa admixture in NW Africa
Genetic markers
Classical polymorphisms: proteins
Autosomal markers: STRs, Alu insertions
Uniparental markers: Y-chromosome and mtDNA
DNA markers
Classical genetic markers in Europe
First Principal Component (28.1%)
Cavalli-Sforza LL, Menozzi P, Piazza A (1994). The history and geography of human genes
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 markers
Hum Biol 69: 295-311
Classical genetic markers in the Mediterranean
Sharpest genetic boundaries
Simoni L, Gueresi P, Pettener D, Barbujani G (1999)
Patterns of gene flow inferred from genetic distances in the Mediterranean region
Hum Biol 71:399-415
Classical genetic markers: HLA evidence
A30-B18-DR3
A1-B8-DR3
A29-B44-DR7
A1-B57-DQ2
A11-B27-DR1
A30-B18-DR3
A33-B14-DR1
A1-B57-DQ2
A2-B35-DR11
A30-B18-DR3
A1-B8-DR3
A29-B44-DR7
A33-B14-DR1
From Arnaiz-Villena and Martínez-Laso (1997)
Origen de ibéricos, vascos y argelinos
Investigación y Ciencia
Classical genetic markers: HLA evidence
Neighbor-joining tree based on 7 HLA loci
35
91 41
78
80
90
66
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
Autosomal STRs (Short Tandem Repeats)
BASQUES
CATALANS
PORTUGUESE
ANDALUSIANS
ARABS
NC
BERBERS
MOZABITES
SO BERBERS
SAHARAWI
21STRs
AACTTGCTAAGATAGATAGATAGATAGCGCGCC
AACTTGCTAAGATAGATAGATAGATAGATAGCGCGCC
D3S1358
vWA*
FGA
D8S1179
D21S11
D18S51
D5S818*
D13S317
D7S820*
D11S2010
D13S767
D14S306
D18S848
D2S1328
D4S243
F13A1
FES / FPS
D9S926
TH01
TPOX
CSF1PO
(TCTA)n
(TCTA)n
(CTTT)n
(TCTA/G)n
(TCTG/TA)n
(AGAA)n
(AGAT)n
(GATA)n
(GATA)n
(GATA)n
(GATA)n
(GATA)n
(GATA)n
(GATA)n
(AGAT)n
(AAAG)n
(ATTT)n
(GATA)n
(CATT)n
(AATG)n
(AGAT)n
Autosomal STRs (Short Tandem Repeats)
40
30
MOZABITES
20
BASQUES
ARABS
-40
ITALIANS
NC
BERBERS
0
SAHARAWI
-60
10
-20
SO
BERBERS
0
ANDALUSIANS
20
PORTUGUESE
-10
40
60
EUROPEAN
AMERICANS
CATALANS
AFRICAN
AMERICANS
-20
75%
-30
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
Alu insertion polymorphisms
Alu element
BASQUES
CATALANS
ANDALUSIANS
Alu element
TUNISIANS
W. MOROCCANS N. MOROCCANS
ALGERIANS
SE. MOROCCANS
SAHARAWI
-/-
11 Alu insertion polymorphisms
A25 ACE APO B65 D1 FXIIIB PV92 TPA25 HS243 HS323 HS465
+/-
+/+
Alu insertion polymorphisms
100
90
80
Basque
Catalan
70
Andalusian
60
Saharawi
50
E.Moroccan
W.Moroccan
40
N.Moroccan
30
Algerian
Tunisian
20
10
HS465
HS323
HS243
TPA25
PV92
FXIIIB
D1
B65
APO
ACE
A25
0
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
Andalusian
Catalan
60.4
Neighbor-joining tree
of populations
11 Alu insertion loci
98.7
Northern
Moroccan
Western
Moroccan
60.4
46.3
28.9
NW Africans
Iberians
1,000 bootstrap iterations
Tunisian
Algerian
S. Eastern
Moroccan
85.7
Saharawi
Alu insertion polymorphisms
Principal component analysis of the Alu insertion frequencies
Second PC (20.8%)
S.Eastern
Moroccan
Saharawi
Catalan
Basque
Andalusian
Western
Moroccan
Tunisian
Northern
Moroccan
Algerian
First PC (48.0%)
Alu insertion polymorphisms
Neighbor-joining tree
of populations
11 Alu insertion loci
Algerians
Nguni
82.9
96.9
!Kung
Saharawi
SEMoroccans
Bantu
1,000 bootstrap iterations
85.8
Sub-Saharans
NW Africans
Europeans
Alu insertion polymorphisms
Second PC (24.2%)
Principal component analysis of the Alu insertion frequencies
Sub-Saharans
NW Africans
Europeans
First PC (44.9%)
Alu insertion polymorphisms
Larger Alu insertion in PV92 locus
3 individuals: 2 Basques and 1 Northern Moroccan
?
Alu insertion polymorphisms
Larger Alu insertion in PV92 locus
Alu element
Alu element
Alu element
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
Y chromosome
autosomes
Uniparental markers: Y-chromosome and mtDNA
Five generations
MALE
FEMALE
Mother
4 Grandparents
16 Great-great
grandparents
Father
Son
8 GreatgrandParents
32 Great
great-great
grandparents
Uniparental markers: Y-chromosome and mtDNA
Y Adam and mtDNA Eve
MRCA
1
2
4
5
6
7
8
generations
3
Uniparental markers: Y-chromosome and mtDNA
Y-chromosome phylogeny
mtDNA 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
BASQUES
CATALANS
ANDALUSIANS
ARABS
NC
BERBERS
SO BERBERS
SAHARAWI
44 binary + 8 STRs
DYS388 DYS19 DYS390 DYS391 DYS392 DYS393 DYS389I DYS389II
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 Peninsula
Am J Hum Genet 68: 1019-1029
Y-chromosome lineages
E3a*
Y-chromosome lineages
E3b2
Y-chromosome lineages
F*
Y-chromosome lineages
R1*
Y-chromosome lineages
Y-chromosome lineages
European Paleolithic
substrate
78.4%
North African genetic flow 5.2%
Neolithic contribution 16.4%
Iberian Peninsula
Neolithic
contribution
13.6%
Iberian genetic
flow 2.8%
Sub-Saharan
genetic flow 8%
North African Paleolithic substrate 75%
NW Africa
Mitochondrial lineages
Galicians Basques
Tuscans
Catalans
CItalians
NPortuguese
CPortuguese
Portuguese
SPortuguese
Central Spain
SItalians
Andalusians
Valencians
Sardinians
Sicilians
Tunisians
Algerians
NBerbers
MArabs
Mozabites
SBerbers
Saharawis
12705
12308
HVS I Control Region
+ 4 SNPs Coding Region
10873
10400
Mauritanians
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
Mitochondrial lineages
mtDNA haplogroups defined by
control region sequences
and coding polymorphisms
Mitochondrial lineages
Plot of the two principal co-ordinate scores based on genetic distances
.8
Mozabites
Second principal co-ordinate (12.7%)
.6
.4
Portuguese
.2
North
Portuguese
Catalans
Sard
Sic
M Berbers Saharawi
CS
CI
SPort
And
SBerbers M Arabs
Basques
Tus
Valencians
Central Portuguese
Galicians
-.0
-.2
Mauritanians
Tunisians
South
Italians
-.4
Algerians
-.6
-.4
-.2
0
.2
.4
First principal co-ordinate (55.4%)
.6
.8
Mitochondrial lineages
Haplogroup L
L1
L2
L3
Mitochondrial lineages
Italians
Iberians
North Africans
Haplogroup U/K
182
359
111
172
311
311
293
180
297
192
239
355
145
222
235
189
180
271
311
278
290
278
311
051
261
174
U6b
U/K
163
164
U6
188
129
Mitochondrial lineages
Haplogroup H and V
261
039
259
319
169
124
240
265 172
129
086 129344
037264
311
339
240
093
298
153
362
140
216
291 189254
256
304
153
259
North Africans
075
249
189
Italians
Iberians
242
H
V
235
183
HV
Mitochondrial lineages
Haplogroup M
M1
M5
Mitochondrial lineages
Sened
Matmata
Chenini-Douiret
Mitochondrial lineages
mtDNA haplogroup
Arab
Berber
3,0
J/T
W
2,0
C.Moroccan1
1,0
Mozabites C.Moroccan2
U6
V
0,0
Mauritanians
S.Moroccan
Moroccan
Saharawi
-1,0
U
N
X M1
K
Algerian
Egyptians
Matmata
Tunisian
Sened
L1 L3
Tuareg
T
J
H
Other
Chenini-Douiret
I
HV
L2
-2,0
-3,0
-2,0
-1,0
0,0
1,0
2,0
Correspondence analysis based on haplogroup frequencies
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
Mitochondrial lineages
Analysis of the molecular variance (AMOVA)
Groups
Among groups
Among populations
Within populations
All populations
4.14**
95.86
Arabs
1.54**
98.46
Berbers
6.24**
93.76
4.25**
95.95
Arabs-Berbers
-0.21 ns
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
Western Mediterranean populations: Conclusions
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
4) Greater heterogeneity in NW Africa
Genetic drift in isolated populations
Differential genetic admixture
Population sampling bias ?
Genes, peoples, and languages
across the Western Mediterranean
David Comas
Unitat de Biologia Evolutiva
Universitat Pompeu Fabra
Barcelona
[email protected]