Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa
Author
Alkan C.
Kavak, P.
Somel, M.
Gokcumen, O.
Ugurlu, S.
Saygi, C.
Dal, E.
Bugra, K.
Güngör, T.
Sahinalp, S. C.
Özören, N.
Bekpen, C.
Date
2014-11-07Source Title
BMC Genomics
Print ISSN
1471-2164
Publisher
BioMed Central Ltd.
Volume
15
Issue
963
Pages
1 - 12
Language
English
Type
ArticleItem Usage Stats
131
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85
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Abstract
Background: Turkey is a crossroads of major population movements throughout history and has been a hotspot of
cultural interactions. Several studies have investigated the complex population history of Turkey through a limited
set of genetic markers. However, to date, there have been no studies to assess the genetic variation at the whole
genome level using whole genome sequencing. Here, we present whole genome sequences of 16 Turkish
individuals resequenced at high coverage (32 × −48×).
Results: We show that the genetic variation of the contemporary Turkish population clusters with South European
populations, as expected, but also shows signatures of relatively recent contribution from ancestral East Asian
populations. In addition, we document a significant enrichment of non-synonymous private alleles, consistent with
recent observations in European populations. A number of variants associated with skin color and total cholesterol levels
show frequency differentiation between the Turkish populations and European populations. Furthermore, we have
analyzed the 17q21.31 inversion polymorphism region (MAPT locus) and found increased allele frequency of 31.25% for
H1/H2 inversion polymorphism when compared to European populations that show about 25% of allele frequency.
Conclusion: This study provides the first map of common genetic variation from 16 western Asian individuals and
thus helps fill an important geographical gap in analyzing natural human variation and human migration. Our data
will help develop population-specific experimental designs for studies investigating disease associations and
demographic history in Turkey.
Keywords
Genome projectEuropean population
Familial mediterranean fever
Turkish population
Whole genome shotgu
Diversity
Variants
DNA
Discovery
Haplotype