Human Germline Mutation and the Erratic Evolutionary Clock
نویسندگان
چکیده
منابع مشابه
Human Germline Mutation and the Erratic Evolutionary Clock
Our understanding of the chronology of human evolution relies on the "molecular clock" provided by the steady accumulation of substitutions on an evolutionary lineage. Recent analyses of human pedigrees have called this understanding into question by revealing unexpectedly low germline mutation rates, which imply that substitutions accrue more slowly than previously believed. Translating mutati...
متن کاملHuman germline mutation and the erratic molecular clock
Our understanding of the chronology of human evolution relies on the " molecular clock " provided by the steady accumulation of substitutions on an evolutionary lineage. This understanding has been called into question by recent analyses of human pedigrees, suggesting that mutations accrue more slowly than previously believed. Translating mutation rates estimated from pedigrees into substitutio...
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The Clock (Clk) mutation shortens circadian rhythms of locomotor activity and eclosion from ca. 24 h to 22.5-23 h. Clk was previously mapped, by meiotic recombination, very close to the period(per) locus on the X chromosome. To determine whether Clk is a mutation within the per gene or if the former is separate from the latter, two overlapping genomic fragments were cloned from Clk flies to pro...
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The association between somatic JAK2 mutation and myeloproliferative neoplasms (MPNs) is now well established. However, because JAK2 mutations are associated with heterogeneous clinical phenotypes and often occur as secondary genetic events, some aspects of JAK2 mutation biology remain to be understood. We recently described a germline JAK2V617I mutation in a family with hereditary thrombocytos...
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BACKGROUND While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; R95*), introducing an early stop-codon, in two Norwegian patients diagnosed with locally advanced breast cancer. Both patients were resistant to anthracycline therapy, resembl...
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ژورنال
عنوان ژورنال: PLOS Biology
سال: 2016
ISSN: 1545-7885
DOI: 10.1371/journal.pbio.2000744