Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa.
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.


CONCLUSIONS
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.
Can
C
Alkan
Pinar
P
Kavak
Mehmet
M
Somel
Omer
O
Gokcumen
Serkan
S
Ugurlu
Ceren
C
Saygi
Elif
E
Dal
Kuyas
K
Bugra
Tunga
T
Güngör
S Cenk
SC
Sahinalp
Department of Molecular Biology and Genetics, Boğaziçi University, İstanbul 34342, Turkey. nesrin.ozoren@boun.edu.tr.
Nesrin
N
Özören
Cemalettin
C
Bekpen
D000349:Africa; D000483:Alleles; D001208:Asia; D005060:Europe; D005787:Gene Frequency; D005828:Genetics, Population; D015894:Genome, Human / Q000235:genetics*; D055106:Genome-Wide Association Study; D005843:Geography; D006801:Humans; D009711:Nucleotides / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA / Q000379:methods*; D014421:Turkey
D009711:Nucleotides