title: Human Germline Mutation and the Erratic Evolutionary Clock.
abstract: 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 mutation rates estimated from pedigrees into substitution rates is not as straightforward as it may seem, however. We dissect the steps involved, emphasizing that dating evolutionary events requires not "a mutation rate" but a precise characterization of how mutations accumulate in development in males and females-knowledge that remains elusive.
authors.affiliation: Department of Biological Sciences, Columbia University, New York, New York, United States of America.
authors.forename: Priya
authors.initials: P
authors.lastname: Moorjani
authors.affiliation: Howard Hughes Medical Institute & Dept. of Genetics, Stanford University, Stanford, California, United States of America.
authors.forename: Ziyue
authors.initials: Z
authors.lastname: Gao
authors.affiliation: Department of Biological Sciences, Columbia University, New York, New York, United States of America.|Department of Systems Biology, Columbia University, New York, New York, United States of America.
authors.forename: Molly
authors.initials: M
authors.lastname: Przeworski
mesh_terms: D005075:Biological Evolution; D005785:Gene Conversion; D018095:Germ-Line Mutation; D006801:Humans; D009154:Mutation; D010375:Pedigree