Variation in genome-wide mutation rates within and between human families

Nature Genetics

Volumn 43, Issue 7, 2011, Pages 712-714

  Conrad, Donald F ^a,b   Keebler, Jonathan E M ^c,d   Depristo, Mark A ^e   Lindsay, Sarah J ^a   Zhang, Yujun ^a   Casals, Ferran ^c   Idaghdour, Youssef ^c   Hartl, Chris L ^e   Torroja, Carlos ^a   Garimella, Kiran V ^e   Zilversmit, Martine ^c   Cartwright, Reed ^d   Rouleau, Guy A ^c   Daly, Mark ^e   Stone, Eric A ^d   Hurles, Matthew E ^a   Awadalla, Philip ^c  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d NORTH CAROLINA STATE UNIVERSITY   (United States)

^e BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPARATIVE STUDY; CONFERENCE PAPER; CONTROLLED STUDY; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GERMLINE MICRONUCLEUS; HUMAN; HUMAN CELL; MALE; MUTATION RATE; PRIORITY JOURNAL; SEX DIFFERENCE;

CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC VARIATION; GENOME, HUMAN; GERM-LINE MUTATION; HUMANS; MALE; POLYMERASE CHAIN REACTION;

MAMMALIA;

EID: 79959725029     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.862     Document Type: Conference Paper

References (18)

1. Haldane, J.B.S. The mutation rate of the gene for haemophilia, and its segregation ratios in males and females. Ann. Eugen. 13, 262-271 (1947).
2. Bohossian, H.B., Skaletsky, H. & Page, D.C. Unexpectedly similar rates of nucleotide substitution found in male and female hominids. Nature 406, 622-625 (2000). (Pubitemid 30641047)
3. Taylor, J., Tyekucheva, S., Zody, M., Chiaromonte, F. & Makova, K.D. Strong and weak male mutation bias at different sites in the primate genomes: insights from the human-chimpanzee comparison. Mol. Biol. Evol. 23, 565-573 (2006). (Pubitemid 43278268)
4. Awadalla, P. et al. Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am. J. Hum. Genet. 87, 316-324 (2011).
5. Gauthier, J. et al. De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc. Natl. Acad. Sci. USA 107, 7863-7868 (2010).
6. Lee, C., Iafrate, A.J. & Brothman, A.R. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat. Genet. 39, S48-S54 (2007). (Pubitemid 47014476)
7. Roach, J.C. et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328, 636-639 (2010).
8. Xue, Y. et al. Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Curr. Biol. 19, 1453-1457 (2009).
9. Crow, J.F. How much do we know about spontaneous human mutation rates? Environ. Mol. Mutagen. 21, 122-129 (1993). (Pubitemid 23094726)
10. Haldane, J.B.S. The rate of spontaneous mutation of a human gene. J. Genet. 31, 317-326 (1935).
11. Kondrashov, A.S. Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases. Hum. Mutat. 21, 12-27 (2003). (Pubitemid 36070453)
12. Kondrashov, A.S. & Crow, J.F. A molecular approach to estimating the human deleterious mutation rate. Hum. Mutat. 2, 229-234 (1993). (Pubitemid 23205197)
13. Lynch, M. Rate, molecular spectrum, and consequences of human mutation. Proc. Natl. Acad. Sci. USA 107, 961-968 (2010).
14. Nachman, M.W. & Crowell, S.L. Estimate of the mutation rate per nucleotide in humans. Genetics 156, 297-304 (2000).
15. The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010).
16. Chen, F.C. & Li, W.H. Genomic divergences between humans and other hominoids and the effective population size of the common ancestor of humans and chimpanzees. Am. J. Hum. Genet. 68, 444-456 (2001).
17. Lynch, M. Evolution of the mutation rate. Trends Genet. 26, 345-352 (2010).
18. Cooper, G.M. et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 15, 901-913 (2005). (Pubitemid 40994210)