A Bayesian evaluation of human mitochondrial substitution rates

被引:84
作者
Endicott, Phillip [1 ]
Ho, Simon Y. W. [1 ]
机构
[1] Univ Oxford, Dept Zool, Oxford OX1 3PS, England
关键词
D O I
10.1016/j.ajhg.2008.01.019
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Accurate estimates of mitochondrial substitution rates are central to molecular studies of human evolution, but meaningful of published studies are problematic because Of the wide range of methodologies and data sets employed. comparisons These differences are nowhere more pronounced than among rates estimated from phylogenies, genealogies, and pedigrees. By using a data set comprising mitochondrial genomes from 177 humans, we estimate substitution rates for various data partitions by using Bayesian phylogenetic analysis with a relaxed molecular clock. We compare the effect of multiple internal calibrations with the customary human-chimpanzee split. The analyses reveal wide variation among estimated substitution rates and divergence times made with different partitions and calibrations, with evidence of substitutional saturation, natural selection, and significant rate heterogeneity among lineages and among sites. Collectively, the results support dates for migration out of Africa and the common mitochondrial ancestor of humans that are considerably more recent than most previous estimates. Our results also demonstrate that human mitochondrial genomes exhibit a number of molecular evolutionary complexities that necessitate the use of sophisticated analytical models for genetic analyses.
引用
收藏
页码:895 / 902
页数:8
相关论文
共 61 条
[1]   The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool [J].
Achilli, A ;
Rengo, C ;
Magri, C ;
Battaglia, V ;
Olivieri, A ;
Scozzari, R ;
Cruciani, F ;
Zeviani, M ;
Briem, E ;
Carelli, V ;
Moral, P ;
Dugoujon, JM ;
Roostalu, U ;
Loogväli, EL ;
Kivisild, T ;
Bandelt, HJ ;
Richards, M ;
Villems, R ;
Santachiara-Benerecetti, AS ;
Semino, O ;
Torroni, A .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (05) :910-918
[2]   SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME [J].
ANDERSON, S ;
BANKIER, AT ;
BARRELL, BG ;
DEBRUIJN, MHL ;
COULSON, AR ;
DROUIN, J ;
EPERON, IC ;
NIERLICH, DP ;
ROE, BA ;
SANGER, F ;
SCHREIER, PH ;
SMITH, AJH ;
STADEN, R ;
YOUNG, IG .
NATURE, 1981, 290 (5806) :457-465
[3]   Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA [J].
Andrews, RM ;
Kubacka, I ;
Chinnery, PF ;
Lightowlers, RN ;
Turnbull, DM ;
Howell, N .
NATURE GENETICS, 1999, 23 (02) :147-147
[4]  
Bandelt HJ, 2006, NUCL ACID M, V18, P47
[5]   Detecting errors in mtDNA data by phylogenetic analysis [J].
Bandelt, HJ ;
Lahermo, P ;
Richards, M ;
Macaulay, V .
INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 2001, 115 (02) :64-69
[6]   Assessing the causes of Late Pleistocene extinctions on the continents [J].
Barnosky, AD ;
Koch, PL ;
Feranec, RS ;
Wing, SL ;
Shabel, AB .
SCIENCE, 2004, 306 (5693) :70-75
[7]   Paleontological evidence to date the tree of life [J].
Benton, Michael J. ;
Donoghue, Philip C. J. .
MOLECULAR BIOLOGY AND EVOLUTION, 2007, 24 (01) :26-53
[8]   Explaining the Pleistocene megafaunal extinctions: Models, chronologies, and assumptions [J].
Brook, BW ;
Bowman, DMJS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (23) :14624-14627
[9]   The detection of shared and ancestral polymorphisms [J].
Charlesworth, B ;
Bartolomé, C ;
Noël, V .
GENETICS RESEARCH, 2005, 86 (02) :149-157
[10]  
Drummond AJ, 2005, MOL BIOL EVOL, V22, P1185, DOI [10.1093/molbev/msi103, 10.1093/molbev/mss075]