Laurence D Hurst, University of Bath, Bath, UK
Published online: January 2006
DOI: 10.1038/npg.els.0006093
At least in humans, more spontaneous point mutations occur in the male germ line than in the female germ line. One explanation for this is the greater number of germ-cell divisions in males than in females.
Keywords: point mutations; germ-cell divisions; sex chromosomes; methylation; neutral evolution; dominance
| References | |
| Bohossian HB, Skaletsky H and Page DC (2000) Unexpectedly similar rates of nucleotide substitution found in male and female hominids. Nature 406: 622–625. | |
| Crow JF (1997) The high spontaneous mutation rate: is it a health risk? Proceedings of the National Academy of Sciences of the United States of America 94: 8380–8386. | |
| Driscoll DJ and Migeon BR (1990) Sex difference in methylation of single-copy genes in human meiotic germ-cells – implications for X-chromosome inactivation, parental imprinting, and origin of CpG mutations. Somatic Cell Molecular Genetics 16: 267–282. | |
| Ellegren H and Fridolfsson AK (1997) Male-driven evolution of DNA sequences in birds. Nature Genetics 17: 182–184. | |
| Hurst LD and Ellegren H (1998) Sex biases in the mutation rate. Trends in Genetics 14: 446–452. | |
| International Human Genome Sequencing Consortium (2001) Initial sequencing and analysis of the human genome. Nature 409: 860–921. | |
| Kluwe L, Mautner V, Parry DM, et al. (2000) The parental origin of new mutations in neurofibromatosis 2. Neurogenetics 3: 17–24. | |
| Lercher MJ, Williams EJB and Hurst LD (2001) Local similarity in evolutionary rates extends over whole chromosomes in human–rodent and mouse–rat comparisons: implications for understanding the mechanistic basis of the male mutation bias. Molecular Biology and Evolution 18: 2032–2039. | |
| Makova KD and Li W-H (2002) Strong male-driven evolution of DNA sequences in humans and apes. Nature 416: 624–626. | |
| McVean GT and Hurst LD (1997) Evidence for a selectively favourable reduction in the mutation rate of the X chromosome. Nature 386: 388–392. | |
| Miyata T, Hayashida H, Kuma K, Mitsuyasu K and Yasunaga T (1987) Male-driven molecular evolution: a model and nucleotide sequence analysis. Cold Spring Harbor Symposia on Quantitative Biology 52: 863–867. | |
| Moloney DM, Slaney SF, Oldridge M, et al. (1996) Exclusive paternal origin of new mutations in Apert syndrome. Nature Genetics 13: 48–53. | |
| Risch N, Reich EW, Wishnick MM and McCarthy JG (1987) Spontaneous mutation and parental age in humans. American Journal of Human Genetics 41: 218–248. | |
| Sommer SS and Ketterling RP (1996) The factor-IX gene as a model for analysis of human germline mutations – an update. Human Molecular Genetics 5: 1505–1514. | |
| Wilkin DJ, Szabo JK, Cameron R, et al. (1998) Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. American Journal of Human Genetics 63: 711–716. | |
| Further Reading | |
| Ebersberger I, Metzler D, Schwarz C and Paabo S (2002) Genomewide comparison of DNA sequences between humans and chimpanzees. American Journal of Human Genetics 70, 1490–1497. | |
| Li WH, Yi S and Makova K (2002) Male-driven evolution. Current Opinion in Genetics and Development 12, 650–656. | |
| Shimmin LC, Chang BH and Li W-H (1993) Male-driven evolution of DNA sequences. Nature 362: 745–747. | |
| Tiemann-Boege I, Navidi W, Grewal R, et al. (2002) The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Proceedings of the National Academy of Sciences of the United States of America 99, 14952–14957. | |
| Web Links | |
| ePath Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson–Weiss syndrome) (FGFR2); Locus ID: 2263. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2263 | |
| ePath Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) (FGFR3); Locus ID: 2261. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2261 | |
| ePath Neurofibromin 2 (bilateral acoustic neuroma) (NF2); Locus ID: 4771. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4771 | |
| ePath Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson–Weiss syndrome) (FGFR2); MIM number: 176943. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?176943 | |
| ePath Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) (FGFR3); MIM number: 134934. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?134934 | |
| ePath Neurofibromin 2 (bilateral acoustic neuroma) (NF2); MIM number: 101000. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?101000 | |
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