Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome

ATAC-Seq reports local chromatin accessibility and provides a snapshot of active regulatory regions and genomic regions occupied by DNA-binding proteins in a given tissue. We used ATAC-Seq to identify open chromatin sites in FGFR3-positive spermatogonial cells isolated from dissociated human testicular samples. FGFR3 is most highly expressed in self-renewing spermatogonial stem cells, with low expression also being detected in early differentiating spermatogonia; its expression thus overlaps with the onset of PRDM9 expression in pre-meiotic spermatogonia. Open chromatin in FGFR3-positive cells was identified using standard peak detection analysis with MACS2 software.

Talmane, Lana; Kaiser, Vera; Kumar, Yatendra; Semple, Fiona; MacLennan, Marie; Semple, Colin; Fitzpatrick, David; Taylor, Martin. (2021). Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome, [dataset]. University of Edinburgh. MRC IGC. MRC Human Genetics Unit. https://doi.org/10.7488/ds/3053.