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- W2740806657 abstract "J.B.S. Haldane was just&ably proud of having been the first person to estimate the mutation rate of a human gene, the X-linked locus whose mutant alleles can cause haemophilia [I]. His method was based on population genetic theory, using the assumption that an equilibrium has been reached between recurrent mutation from wild type and selection against the deleterious fitness effects of muta tions. In a later study of haemophilia [ 21, Haldane extended his method to provide evidence that the mutation rate is higher in the male than the female germ line in humans. He used a characteristically ingenious statistical argument to derive this conclusion, based on the fact that far fewer male haemophiliacs are produced by females homozygous for the wild-type allele than would be expected if mutations occurred with equal frequency in females and males. He estimated that the mutation in males was approximately ten times that in females, He also noted that a plausible reason for this difference is that, in mammals, there are many more cell divisions in the male than in the female germ line, so that there is a much greater opportunity for a replication error between conception and the production of a sperm than is the case for an egg cell. Haldane’s results apparently had little inlluence on the thinking of either evolutionists or human geneticists, until quite recently. Standard textbooks of human genetics adopted a distinctly sceptical attitude to the possibility that there might be a difference in mutation rate between males and females, and evolutionary biologists had little reason to be interested in this question, given the prevailing view (strongly held by Haldane himself) that the rate of adaptive evolution is unlikely to be limited by the rate of mutation. The situation has now changed radically, due to the proliferation of studies of variation and evolution at the level of DNA. Human geneticists have uncovered an increasing number of cases in which the mutation rate appears to be higher in males than in females [ 31. Evolutionists are persuaded that much evolution at the level of DNA sequences is caused by the chance fixation by genetic drift of selectively neutral, or nearly neutral, mutations. Theory predicts that the substitution rate for neutral mutations in evolution is equal to the mutation rate [4], so that the rate of DNA sequence evolution should be strongly influenced by the" @default.
- W2740806657 created "2017-08-08" @default.
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- W2740806657 date "1993-01-01" @default.
- W2740806657 modified "2023-09-24" @default.
- W2740806657 title "In mammals, molecular evolution rates differ between autosomal, X-linked and Y-linked genes, suggesting that mutation rates are higher in the male than the female germ line." @default.
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