Shoag Lab
Principal Investigator: Jonathan Shoag
Institution: Case Western Reserve University (Cleveland, OH)
Primary Subfield: Molecular & Cell Bio
Recruitment Status: Inquire for rotation/fellowship opportunities
Research Focus
Project Summary Most new mutations in humans originate in the male germline, contributing to evolution, genetic diversity, and both common and rare diseases. Prior de novo mutation studies have largely relied on sequencing parents and their offspring (trios). These studies have demonstrated that paternal age is the major contributor to the number of new mutations in each generation. However, whether men accumulate different numbers of mutation in their sperm with age, and factors that may contribute to variability in mutation rates, remain poorly understood. Recent advances in DNA sequencing have allowed the examination of mutations that occur in tissues that are unique to individual cells or small clonal populations. Leveraging these technologies, and a unique collaborative infrastructure, we performed high-fidelity duplex sequencing on sperm collected from the same individuals separated by a median of 16 years. We found that sperm mutation rates increase in all individuals with age, yielding individual-specific measurements of the germline mutation rate. We also found, in two individuals profiled by deep whole-genome and targeted duplex sequencing, that sperm clonal architecture…
Active NIH Awards
- 1R01HD120332-01A1: Impact of Cancer Therapy on Sperm Mutations Using Sequential Samples (2026)
- 5R01AG081622-04: Somatic mutation rates in healthy aging (2026)
- 5R01AG081622-03: Somatic mutation rates in healthy aging (2025)
- 5R01AG081622-02: Somatic mutation rates in healthy aging (2024)
Explore 700+ US Biology Labs on FindBioLabs.com