학술논문
The Y-chromosome point mutation rate in humans
Document Type
Report
Author
Source
Nature Genetics. May 1, 2015, p453, 8 p.
Subject
Language
English
ISSN
1061-4036
Abstract
Several recent studies have used whole-genome sequencing data to find de novo mutations through a direct comparison of chromosomes from parents and offspring, yielding mutation rate estimates in the range [...]
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 x [10.sup.-10] mutations per position per year (PPPY). We observed a lower rate (P = 0.04) of 7.37 x [10.sup.-10] PPPY for 6.1 Mb of sequence from palindromes (PAL), which was not statistically different from the rate of 7.2 x [10.sup.-10] PPPY for paternally transmitted autosomes (1). 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.
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 x [10.sup.-10] mutations per position per year (PPPY). We observed a lower rate (P = 0.04) of 7.37 x [10.sup.-10] PPPY for 6.1 Mb of sequence from palindromes (PAL), which was not statistically different from the rate of 7.2 x [10.sup.-10] PPPY for paternally transmitted autosomes (1). 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.