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A high observed substitution rate in the human mitochondrial DNA control region.

Abstract：

:The rate and pattern of sequence substitutions in the mitochondrial DNA (mtDNA) control region (CR) is of central importance to studies of human evolution and to forensic identity testing. Here, we report a direct measurement of the intergenerational substitution rate in the human CR. We compared DNA sequences of two CR hypervariable segments from close maternal relatives, from 134 independent mtDNA lineages spanning 327 generational events. Ten substitutions were observed, resulting in an empirical rate of 1/33 generations, or 2.5/site/Myr. This is roughly twenty-fold higher than estimates derived from phylogenetic analyses. This disparity cannot be accounted for simply by substitutions at mutational hot spots, suggesting additional factors that produce the discrepancy between very near-term and long-term apparent rates of sequence divergence. The data also indicate that extremely rapid segregation of CR sequence variants between generations is common in humans, with a very small mtDNA bottleneck. These results have implications for forensic applications and studies of human evolution.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Parsons TJ,Muniec DS,Sullivan K,Woodyatt N,Alliston-Greiner R,Wilson MR,Berry DL,Holland KA,Weedn VW,Gill P,Holland MM

doi

10.1038/ng0497-363

subject

Has Abstract

pub_date

1997-04-01 00:00:00

pages

363-8

issue

4

eissn

1061-4036

issn

1546-1718

journal_volume

15

pub_type

杂志文章,多中心研究

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