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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.
Afiliação
  • Helgason A; 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Department of Anthropology, University of Iceland, Reykjavik, Iceland.
  • Einarsson AW; 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Department of Anthropology, University of Iceland, Reykjavik, Iceland.
  • Guðmundsdóttir VB; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Sigurðsson Á; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Gunnarsdóttir ED; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Jagadeesan A; 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Department of Anthropology, University of Iceland, Reykjavik, Iceland.
  • Ebenesersdóttir SS; 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Department of Anthropology, University of Iceland, Reykjavik, Iceland.
  • Kong A; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Stefánsson K; 1] deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. [2] Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Nat Genet ; 47(5): 453-7, 2015 May.
Article em En | MEDLINE | ID: mdl-25807285
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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação Puntual / Cromossomos Humanos Y / Taxa de Mutação Limite: Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação Puntual / Cromossomos Humanos Y / Taxa de Mutação Limite: Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article