Strong male-driven evolution of DNA sequences in humans and apes

Research output: Contribution to journalArticle

178 Citations (Scopus)

Abstract

Studies of human genetic diseases have suggested a higher mutation rate in males than in females and the male-to-female ratio (α) of mutation rate has been estimated from DNA sequence and microsatellite data to be about 4-6 in higher primates. Two recent studies, however, claim that α is only about 2 in humans. This is even smaller than the estimates (α > 4) for carnivores and birds; humans should have a higher α than carnivores and birds because of a longer generation time and a larger sex difference in the number of germ cell cycles. To resolve this issue, we sequenced a noncoding fragment on Y of about 10.4 kilobases (kb) and a homologous region on chromosome 3 in humans, greater apes, and lesser apes. Here we show that our estimate of α from the internal branches of the phylogeny is 5.25 (95% confidence interval (CI) 2.44 to ∞), similar to the previous estimates, but significantly higher than the two recent ones. In contrast, for the external (short, species-specific) branches, α is only 2.23 (95% CI: 1.47-3.84). We suggest that closely related species are not suitable for estimating α, because of ancient polymorphism and other factors. Moreover, we provide an explanation for the small estimate of α in a previous study. Our study reinstates a high α in hominoids and supports the view that DNA replication errors are the primary source of germline mutation.

Original languageEnglish (US)
Pages (from-to)624-626
Number of pages3
JournalNature
Volume416
Issue number6881
DOIs
StatePublished - Apr 11 2002

Fingerprint

Hominidae
Mutation Rate
Birds
Confidence Intervals
Inborn Genetic Diseases
Chromosomes, Human, Pair 3
Germ-Line Mutation
Medical Genetics
Phylogeny
DNA Replication
Germ Cells
Sex Characteristics
Microsatellite Repeats
Primates
Cell Cycle
Research Design

All Science Journal Classification (ASJC) codes

  • General

Cite this

Makova, Kateryna Dmytrivna ; Li, Wen Hsiung. / Strong male-driven evolution of DNA sequences in humans and apes. In: Nature. 2002 ; Vol. 416, No. 6881. pp. 624-626.
@article{6f522589aa55489e8f2d0862ed771ba1,
title = "Strong male-driven evolution of DNA sequences in humans and apes",
abstract = "Studies of human genetic diseases have suggested a higher mutation rate in males than in females and the male-to-female ratio (α) of mutation rate has been estimated from DNA sequence and microsatellite data to be about 4-6 in higher primates. Two recent studies, however, claim that α is only about 2 in humans. This is even smaller than the estimates (α > 4) for carnivores and birds; humans should have a higher α than carnivores and birds because of a longer generation time and a larger sex difference in the number of germ cell cycles. To resolve this issue, we sequenced a noncoding fragment on Y of about 10.4 kilobases (kb) and a homologous region on chromosome 3 in humans, greater apes, and lesser apes. Here we show that our estimate of α from the internal branches of the phylogeny is 5.25 (95{\%} confidence interval (CI) 2.44 to ∞), similar to the previous estimates, but significantly higher than the two recent ones. In contrast, for the external (short, species-specific) branches, α is only 2.23 (95{\%} CI: 1.47-3.84). We suggest that closely related species are not suitable for estimating α, because of ancient polymorphism and other factors. Moreover, we provide an explanation for the small estimate of α in a previous study. Our study reinstates a high α in hominoids and supports the view that DNA replication errors are the primary source of germline mutation.",
author = "Makova, {Kateryna Dmytrivna} and Li, {Wen Hsiung}",
year = "2002",
month = "4",
day = "11",
doi = "10.1038/416624a",
language = "English (US)",
volume = "416",
pages = "624--626",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "6881",

}

Strong male-driven evolution of DNA sequences in humans and apes. / Makova, Kateryna Dmytrivna; Li, Wen Hsiung.

In: Nature, Vol. 416, No. 6881, 11.04.2002, p. 624-626.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Strong male-driven evolution of DNA sequences in humans and apes

AU - Makova, Kateryna Dmytrivna

AU - Li, Wen Hsiung

PY - 2002/4/11

Y1 - 2002/4/11

N2 - Studies of human genetic diseases have suggested a higher mutation rate in males than in females and the male-to-female ratio (α) of mutation rate has been estimated from DNA sequence and microsatellite data to be about 4-6 in higher primates. Two recent studies, however, claim that α is only about 2 in humans. This is even smaller than the estimates (α > 4) for carnivores and birds; humans should have a higher α than carnivores and birds because of a longer generation time and a larger sex difference in the number of germ cell cycles. To resolve this issue, we sequenced a noncoding fragment on Y of about 10.4 kilobases (kb) and a homologous region on chromosome 3 in humans, greater apes, and lesser apes. Here we show that our estimate of α from the internal branches of the phylogeny is 5.25 (95% confidence interval (CI) 2.44 to ∞), similar to the previous estimates, but significantly higher than the two recent ones. In contrast, for the external (short, species-specific) branches, α is only 2.23 (95% CI: 1.47-3.84). We suggest that closely related species are not suitable for estimating α, because of ancient polymorphism and other factors. Moreover, we provide an explanation for the small estimate of α in a previous study. Our study reinstates a high α in hominoids and supports the view that DNA replication errors are the primary source of germline mutation.

AB - Studies of human genetic diseases have suggested a higher mutation rate in males than in females and the male-to-female ratio (α) of mutation rate has been estimated from DNA sequence and microsatellite data to be about 4-6 in higher primates. Two recent studies, however, claim that α is only about 2 in humans. This is even smaller than the estimates (α > 4) for carnivores and birds; humans should have a higher α than carnivores and birds because of a longer generation time and a larger sex difference in the number of germ cell cycles. To resolve this issue, we sequenced a noncoding fragment on Y of about 10.4 kilobases (kb) and a homologous region on chromosome 3 in humans, greater apes, and lesser apes. Here we show that our estimate of α from the internal branches of the phylogeny is 5.25 (95% confidence interval (CI) 2.44 to ∞), similar to the previous estimates, but significantly higher than the two recent ones. In contrast, for the external (short, species-specific) branches, α is only 2.23 (95% CI: 1.47-3.84). We suggest that closely related species are not suitable for estimating α, because of ancient polymorphism and other factors. Moreover, we provide an explanation for the small estimate of α in a previous study. Our study reinstates a high α in hominoids and supports the view that DNA replication errors are the primary source of germline mutation.

UR - http://www.scopus.com/inward/record.url?scp=0037061501&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0037061501&partnerID=8YFLogxK

U2 - 10.1038/416624a

DO - 10.1038/416624a

M3 - Article

C2 - 11948348

AN - SCOPUS:0037061501

VL - 416

SP - 624

EP - 626

JO - Nature

JF - Nature

SN - 0028-0836

IS - 6881

ER -