From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks
Abstract
Summary: Two hypervariable sequence segments in the control region of mitochondrial DNA were determined in samples of Bulgarians and Turks. The Turkish sample presented a higher degree of internal diversity, in terms of total number of variable nucleotides, as well as in the average pairwise nucleotide difference. Pairwise difference distributions were built for both samples, yielding smooth bell shapes in agreement with the Rogers and Harpending model. The Bulgarian and Turkish data were compared with several European and W. Asian Caucasoid populations (Basques, Tuscans, Sardinians, British, Middle Easterners and Indians). Mean pairwise differences suggest that a demographic expansion occurred sequentially in the Middle East, through Turkey, to the rest of Europe (Bulgaria included). Current mutation rate estimates date this expansion in times ranging between 50000 and 100000 years ago and, thus, would correspond to the arrival of anatomically modern humans in Europe. Sequence trees for segment I show that European and Middle Eastern sequences derived from the reference sequence. Coalescence times for segment I sequences agree with those predicted by pairwise distributions. Genetic trees were constructed between populations and revealed an extreme homogeneity between European samples.
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Low genetic differentiation was found between the 60 ancient mtDNA HVR1 sequences and 246 modern homologous sequences from the same geographic region (FST = 0.00551; P = 0.0663).
“we compared the 60 mtDNA HVR1 sequences obtained from our ancient sample to 246 homologous modern sequences (29–31) from the same geographic region and found low genetic differentiation (FST = 0.00551; P = 0.0663) (32).”
From Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y (2014) · cites this paper as [31]
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- Authors
- CALAFELL, F., UNDERHILL, P., TOLUN, A., ANGELICHEVA, D., & KALAYDJIEVA, L.
- Affiliations
- Universitat de Barcelona (ES)
- Stanford Medicine (US)
- Boğaziçi University (TR)
- Medical University of Sofia (BG)
- Edith Cowan University (AU)
- Corresponding author
- KALAYDJIEVA, L.
- Venue
- Annals of Human Genetics
- Publisher
- Wiley
- Published
- 1996-01
- Volume
- 60
- Issue
- 1
- Pages
- 35-49
- ISSN
- 0003-4800 (ISSN-L)
- 1469-1809
- OpenAlex
- W2151152875
- Cited by
- 146
- References
- 42
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 1 · 2019: 4 · 2018: 1 · 2017: 1 · 2016: 5 · 2015: 3 · 2014: 6 · 2013: 6 · 2012: 6
- FWCI
- 5.40
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- U.S. Public Health Service (28428)
- National Institute of General Medical Sciences (GMS 20467)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- mitochondrial DNA, control region, hypervariable region, Bulgarian population, Turkish population, demographic expansion, anatomically modern humans, mutation rate, coalescence time, genetic homogeneity, Caucasoid population, population genetics
- MeSH terms
- Base Sequence, Bulgaria, DNA, Mitochondrial, Biological Evolution, Haplotypes, Humans, Molecular Sequence Data, Polymorphism, Genetic, Sequence Homology, Nucleic Acid, Turkey
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