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PMID: 10388828 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Pattern of nucleotide substitution and rate heterogeneity in the hypervariable regions I and II of human mtDNA.

Genetics ·Vol. 152 ·No. 3 ·1999-07-00 ·Pages 1103-10

Meyer S, Weiss G, von Haeseler A

Abstract

This study provides a comprehensive survey of the complex pattern of nucleotide substitution in the control region of human mtDNA, which is of central importance to the studies of human evolution. A total of 1229 different hypervariable region I (HVRI) and 385 different hypervariable region II (HVRII) sequences were analyzed using a complex substitution model. Moreover, we suggest a new method to assign relative rates to each site in the sequence. Estimates are based on maximum-likelihood methods applied to randomly selected subsets of sequences. Our results indicate that the rate of substitution in HVRI is approximately twice as high as in HVRII and that this difference is mainly due to a higher frequency of pyrimidine transitions in HVRI. However, rate heterogeneity is more pronounced in HVRII.

MeSH Terms
DNA, Mitochondrial/genetics Databases, Factual Evolution, Molecular Genetic Variation Humans Models, Genetic Models, Statistical
Chemicals
DNA, Mitochondrial
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Meyer S
Max-Planck-Institut für evolutionäre Anthropologie, D-04103 Leipzig, Germany.
Weiss G
von Haeseler A
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Article Info
Journal
Genetics
Abbr.
Genetics
ISSN
0016-6731
DOI
10.1093/genetics/152.3.1103
Published
1999-07-00
Pages
1103-10
Language
English
Region
United States
NLM ID
0374636
PMCID
PMC1460673
Subset
IM
External Links
PubMed source DOI: 10.1093/genetics/152.3.1103 PMC Full Text View journal details
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