Sperm sequencing reveals extensive positive selection in the male germline.

ABSTRACT: Mutations that occur in the cell lineages of sperm or eggs can be transmitted to offspring. In humans, positive selection of driver mutations during spermatogenesis can increase the birth prevalence of certain developmental disorders^1-3. Until recently, characterizing the extent of this selection in sperm has been limited by the error rates of sequencing technologies. Here we used the duplex sequencing method NanoSeq⁴ to sequence 81 bulk sperm samples from individuals aged 24-75 years. Our findings revealed a linear accumulation of 1.67 (95% confidence interval of 1.41-1.92) mutations per year per haploid genome driven by two mutational signatures associated with human ageing. Deep targeted and exome NanoSeq⁵ of sperm samples identified more than 35,000 ger

SUBMITTER: Neville MDC 

PROVIDER: S-EPMC12611766 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature