Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.

ABSTRACT: Short tandem repeats (STRs) are hotspots of genomic variability in the human germline because of their high mutation rates, which have long been attributed largely to polymerase slippage during DNA replication. This model suggests that STR mutation rates should scale linearly with a father's age, as progenitor cells continually divide after puberty. In contrast, it suggests that STR mutation rates should not scale with a mother's age at her child's conception, since oocytes spend a mother's reproductive years arrested in meiosis II and undergo a fixed number of cell divisions that are independent of the age at ovulation. Yet, mirroring recent findings, we find that STR mutation rates covary with paternal and maternal age, implying that some STR mutations are caused by DNA damage in quiesce

SUBMITTER: Goldberg ME 

PROVIDER: S-EPMC10990422 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature