Ziyue Gao
Stanford University
Wisdom from the parents: mechanisms and timing of human germline mutation
Thursday, January 24, 2019
2 PM
RRI 101
Abstract: Despite the fundamental role of mutation as the driver of molecular evolution and the root of heritable diseases, much remains unknown about the germline mutational process, especially in humans. Whole-genome sequencing of pedigrees has enabled direct survey of newly arising mutations (i.e., de novo mutations) and updated our understanding of germline mutagenesis based on indirect approaches. My re-analysis of published human de novo mutations challenges the conventional view that DNA replication errors are the primary source of germline mutations in mammals and uncovers findings that support underappreciated roles of DNA damage and maternal age in generating human germline mutations. By relating the effects of parental ages on de novo mutations to the patterns of polymorphic variants in the population, I further investigate the role of the generation time in temporal variation in the human mutation spectrum and find evidence for increases in reproductive ages towards the present in both Africans and Europeans. Together, this work sheds new light on the germline mutational process and the evolution in mutation rate and spectrum in humans.
Host: Liang Chen
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