MtDNA and Y chromosome variation and language replacement in the

Caucasus

Ivan Nasidze & Mark Stoneking

Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany

Question: the presence of populations who are linguistically-

related to populations outside the Caucasus, such as Armenians

(who speak an Indo-European language) and Azerbaijanians

(who speak a Turkic language) raises the question as to

whether language affiliation or geographic proximity best

explains the genetic relationships of these Caucasian

populations.

Analyze populations whose linguistic neighbors are not their geographic neighbors

A B C

Which best explains their genetic relationships?

A B C

Geography!

A C B

Language!

Ba sq ue s

Sa rd inia

British

Sp a nish

Ira n ia nsTe h ra nIra n ia nsIsfa ha n

Turks

WAsia

Druze s

Kirg iz

Ka za kh

Ab kha zins

Ava ria ns

Ba lka ria ns

Ka ra c ha ia ns

Le zg in ia ns

O sse tia nsArd o nO sse tia nsDig o ra

Rutu lia ns

Ka b a rd in ia nsIng ushia ns

G e o rg ia ns

Da rg in ia ns

C he rke ssia ns

C he c he n ia ns

Aze rb a ija n ia nsArm e nia ns

Ab a zin ia ns

Ad yg he

SO sse tia ns

Kurd s

X

Russia ns

Sla vs

Genetic markers used in our studies

We addressed this question by studying sequence variation

in the first hypervariable segment (HV1) of the mtDNA

control region, Y chromosome bi-allelic and STR markers

in the Caucasian populations.

MDS plot based on mtDNA HVI sequence data

M124 C T

M45 G A

M173 A C

M17 1bp delM9 C G

M89 C T

M201 G T

M172 T G

M170 A C

RPS4Y (M130) C T

YAP

P

RK

F

I

J

G

C

E

P1

P*

R1a1*

R1*

K*

F*

G*

J2*

I*

C*

E*

AB

IN DA

LE

AZ

GE

AR

K

OS

SV

TUR

ABK

OS_D OS_A

IR_T

IR_I

RU

LE

KA

CH

J2*

F* R1a1*

I*G*

C*

R1*

K*

E*

P*

P1

MDS plot based on Y chromosome SNP data

___________________________________________________ Caucasian Indo-Eur. Turkic speakers speakers speakers___________________________________________________Armenians (mtDNA) 0.013 0.014 - Armenians (Y-chr.) 0.053 0.146 -Azerbaijanians (mtDNA) 0.019 - 0.099Azerbaijanians (Y-chr.) 0.047 - 0.105___________________________________________________Table 1. Pairwise Fst values between Armenians, Azerbaijaniansand neighboring groups.

Armenians

Indo-Europeans

Caucasians

Azerbaijanians

Turkic

Caucasians

Geography best explains genetic relationships!

Genetic relationships of Armenians and Azerbaijanians

MDS plot based on mtDNA HVI sequence data

MDS plot based on Y chromosome SNP data

Os

Conclusions

The genetic results thus suggest that both the Armenian and Azerbaijanian languages represent language replacements via elite dominance.

Armenians and Azerbaijanians are more closely-related genetically to their geographic neighbors in the Caucasus than to their linguistic neighbors elsewhere.

Overall, we did not find correlation between linguistic and genetic classifications in the Caucasus.