Genetics and Population History of Caucasus Populations

Bulayeva, Kazima; Jorde, Lynn B.; Ostler, C.; Watkins, Scott; Bulayev, Oleg; Harpending, Henry

doi:10.1353/hub.2004.0003

Cited by 47 publications

(44 citation statements)

References 9 publications

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“…As a result, ethnic identity is preserved, and numerous long-isolated, inbred small populations are created. 39,[63][64][65] Limited pedigree data suggest very high inbreeding coefficients (0.005-0.0134). Three different measures of genome-wide Figure 4 Regional distribution of ROH.…”

Section: Discussionmentioning

confidence: 99%

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Extensive genome-wide autozygosity in the population isolates of Daghestan

et al. 2015

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Isolated populations are valuable resources for mapping disease genes, as inbreeding increases genome-wide homozygosity and enhances the ability to map disease alleles on a genetically uniform background within a relatively homogenous environment. The populations of Daghestan are thought to have resided in the Caucasus Mountains for hundreds of generations and are characterized by a high prevalence of certain complex diseases. To explore the extent to which their unique population history led to increased levels of inbreeding, we genotyped 4550 000 autosomal single-nucleotide polymorphisms (SNPs) in a set of 14 population isolates speaking Nakh-Daghestanian (ND) languages. The ND-speaking populations showed greatly elevated coefficients of inbreeding, very high numbers and long lengths of Runs of Homozygosity, and elevated linkage disequilibrium compared with surrounding groups from the Caucasus, the Near East, Europe, Central and South Asia. These results are consistent with the hypothesis that most ND-speaking groups descend from a common ancestral population that fragmented into a series of genetic isolates in the Daghestanian highlands. They have subsequently maintained a long-term small effective population size as a result of constant inbreeding and very low levels of gene flow. Given these findings, Daghestanian population isolates are likely to be useful for mapping genes associated with complex diseases.

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Section: Discussionmentioning

confidence: 99%

“…[30][31][32][33][34][35][36] Limited pedigree data suggest very high mean inbreeding coefficients (0.005-0.0134), 32,37 whereas population genetic studies have been restricted to autosomal Alu insertion and STR markers, the Y chromosome and mtDNA. 32,[37][38][39][40][41][42][43][44][45] …”

Section: Introductionmentioning

confidence: 99%

Extensive genome-wide autozygosity in the population isolates of Daghestan

et al. 2015

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“…7,8 Previous genetic studies have revealed that the Caucasian populations do not share the genetic variation believed by some researchers to be a signature of the Neolithic expansion through Europe, which has led some to infer that these populations are direct descendants of a more ancient Eurasian population. [9][10][11] Others suggest that the genetic legacy of the Caucasus region is mainly because of the people who crossed or invaded this territory in historic times. 12 A large amount of genetic data on the Caucasian populations, based on classical markers, 9,[13][14][15] Alu insertion polymorphisms, 10 mitochondrial DNA 10,16 and the non-recombining portion of the Y chromosome (NRY) 17 have shown that neither geography nor linguistics have had a strong influence on the genetic structure of these ethnic groups and that genetic drift appears to be the main factor acting in the region.…”

Section: Introductionmentioning

confidence: 99%

“…[9][10][11] Others suggest that the genetic legacy of the Caucasus region is mainly because of the people who crossed or invaded this territory in historic times. 12 A large amount of genetic data on the Caucasian populations, based on classical markers, 9,[13][14][15] Alu insertion polymorphisms, 10 mitochondrial DNA 10,16 and the non-recombining portion of the Y chromosome (NRY) 17 have shown that neither geography nor linguistics have had a strong influence on the genetic structure of these ethnic groups and that genetic drift appears to be the main factor acting in the region. Furthermore, Y chromosomes of highland Dagestan ethnic groups appear to have undergone genetic drift independently of the population history of mitochondrial and autosomal loci, suggesting that social rules, and not simply geographic isolation, are the causal agents for the high NRY diversity observed among highlanders.…”

Section: Introductionmentioning

confidence: 99%

The key role of patrilineal inheritance in shaping the genetic variation of Dagestan highlanders

et al. 2009

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The Caucasus region is a complex cultural and ethnic mosaic, comprising populations that speak Caucasian, Indo-European and Altaic languages. Isolated mountain villages (auls) in Dagestan still preserve high level of genetic and cultural diversity and have patriarchal societies with a long history of isolation. The aim of this study was to understand the genetic history of five Dagestan highland auls with distinct ethnic affiliation (Avars, Chechens-Akkins, Kubachians, Laks, Tabasarans) using markers on the male-specific region of the Y chromosome. The groups analyzed here are all Muslims but speak different languages all belonging to the Nakh-Dagestanian linguistic family. The results show that the Dagestan ethnic groups share a common Y-genetic background, with deep-rooted genealogies and rare alleles, dating back to an early phase in the post-glacial recolonization of Europe. Geography and stochastic factors, such as founder effect and long-term genetic drift, driven by the rigid structuring of societies in groups of patrilineal descent, most likely acted as mutually reinforcing key factors in determining the high degree of Y-genetic divergence among these ethnic groups.

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“…The southern two-thirds of Dagestan with highest ethnic diversity are in the Main Caucasus Mountains, reaching 2,000-4,000 m above sea level. Our genetic study of Dagestan ethnic populations has demonstrated their possible descent from a common ancestor population that existed several hundred generations ago [14]. In Bulayeva' research group' (VIGG RAS) expeditions of 1999-2005 to the remote highland populations of Dagestan indigenous ethnics were ascertained two genetically isolated villages of ethnic Laks (#6007 and #6008) with aggregation of depression and 11-12 officially documented completed suicides.…”

Section: Methodsmentioning

confidence: 99%

Genome-wide linkage scan of major depressive disorder in two Dagestan genetic isolates

et al. 2011

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AbstractWe conducted a 10-cM genome-wide linkage scan in two extended pedigrees, ascertained from two diverse Dagestan genetic isolates with high aggregation of major depressive disorder (MDD) and suicides. Using genome wide multipoint parametric linkage analyses with short tandem repeat markers, we found two previously undetected genomic regions with significant linkage in isolate #6007 with LODs=3.1–3.4 at 2p13.2–p11.2 (and some signal in same region for #6008) and in 14q31.12–q32.13. We also obtained suggestive evidence for linkage with MDD at 9q33.3–q34.2 (#6008), 13q31.1–q31.2(#6007), 11p15(#6008), 17q25.3(#6007) and 19q13.31–q13.33 (#6008). Five regions (1p36.1–p35.2, 2p13.2–p11.2, 17q25.3, 18q22 and 22q12.3) demonstrated at least nominal linkage in both isolates’ pedigrees, while all other linkage regions demonstrated population-specific genetic heterogeneity.

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Genetics and Population History of Caucasus Populations

Cited by 47 publications

References 9 publications

Extensive genome-wide autozygosity in the population isolates of Daghestan

Extensive genome-wide autozygosity in the population isolates of Daghestan

The key role of patrilineal inheritance in shaping the genetic variation of Dagestan highlanders

Genome-wide linkage scan of major depressive disorder in two Dagestan genetic isolates

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