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Cited by 93

The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.

The Y-chromosome point mutation rate in humans

Helgason, Agnar, Einarsson, Axel W, Guðmundsdóttir, Valdís B, Sigurðsson, Ásgeir, Gunnarsdóttir, Ellen D, Jagadeesan, Anuradha, Ebenesersdóttir, S Sunna, Kong, Augustine, Stefánsson, Kári·2015·Nature Genetics
DOI 10.1038/ng.3171
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Abstract

Mutations are the fundamental source of biological variation, and their rate is a crucial parameter for evolutionary and medical studies. Here we used whole-genome sequence data from 753 Icelandic males, grouped into 274 patrilines, to estimate the point mutation rate for 21.3 Mb of male-specific Y chromosome (MSY) sequence, on the basis of 1,365 meioses (47,123 years). The combined mutation rate for 15.2 Mb of X-degenerate (XDG), X-transposed (XTR) and ampliconic excluding palindromes (rAMP) sequence was 8.71 × 10(-10) mutations per position per year (PPPY). We observed a lower rate (P = 0.04) of 7.37 × 10(-10) PPPY for 6.1 Mb of sequence from palindromes (PAL), which was not statistically different from the rate of 7.2 × 10(-10) PPPY for paternally transmitted autosomes. We postulate that the difference between PAL and the other MSY regions may provide an indication of the rate at which nascent autosomal and PAL de novo mutations are repaired as a result of gene conversion.

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Research works printed but not linked: 27

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Metadata

Authors
Helgason, A., Einarsson, A. W., Guðmundsdóttir, V. B., Sigurðsson, Á., Gunnarsdóttir, E. D., Jagadeesan, A., Ebenesersdóttir, S. S., Kong, A., & Stefánsson, K.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2015-03-25
Volume
47
Issue
5
Pages
453-457
ISSN
  • 1061-4036
  • 1546-1718
DOI
10.1038/ng.3171
Cited by
93
References
4
Language
en
Licence
www.springer.com/tdm (tdm)

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