title: The Y-chromosome point mutation rate in humans.
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.
authors: 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Department of Anthropology, University of Iceland, Reykjavik, Iceland.
authors: Agnar
authors: A
authors: Helgason
authors: 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Department of Anthropology, University of Iceland, Reykjavik, Iceland.
authors: Axel W
authors: 0000000174684247
authors: AW
authors: Einarsson
authors: deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
authors: Valdís B
authors: VB
authors: Guðmundsdóttir
authors: deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
authors: Ásgeir
authors: Á
authors: Sigurðsson
authors: deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
authors: Ellen D
authors: ED
authors: Gunnarsdóttir
authors: 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Department of Anthropology, University of Iceland, Reykjavik, Iceland.
authors: Anuradha
authors: A
authors: Jagadeesan
authors: 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Department of Anthropology, University of Iceland, Reykjavik, Iceland.
authors: S Sunna
authors: SS
authors: Ebenesersdóttir
authors: deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
authors: Augustine
authors: A
authors: Kong
authors: 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
authors: Kári
authors: K
authors: Stefánsson
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D004252:DNA Mutational Analysis; D019143:Evolution, Molecular; D006801:Humans; D008297:Male; D059645:Mutation Rate; D010375:Pedigree; D017354:Point Mutation