Anjali Gupta Hinch

Mammalian spermatogenesis at single-cell resolution downstream of genetic perturbations in meiotic double-strand break repair

Single-nucleus RNA+ATAC profiling of 32 mice shows asymmetric PRDM9 binding drives asynapsis, pachytene cell loss, aneuploidy and multi-megabase crossover redistribution, tuned by a chromosome 15 locus.

Genome-wide genealogies reveal deep admixtures forming modern humans

This paper introduces GhostBuster, a method to detect unsampled admixture events in human history using genome-wide genealogies, revealing multiple back-to-Africa migrations and deep ancestral lineages.

A genome-wide atlas of meiotic recombination intermediates reveals distinct modes of DNA repair that direct crossovers away from transcriptionally marked genes

The paper maps meiotic recombination intermediates in mice to show two repair modes that direct crossovers away from transcriptionally active genes.

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

ZCWPW1 is recruited to recombination hotspots by PRDM9, and is essential for meiotic double strand break repair

The paper identifies ZCWPW1 as a protein recruited by PRDM9 to recombination hotspots and shows it is essential for meiotic double strand break repair and fertility in mice.

Molecular structures and mechanisms of DNA break processing in mouse meiosis

The paper defines resected DSB structures in mouse spermatocytes, identifies ATM as a key regulator of resection, and shows PRDM9-dependent chromatin remodeling at recombination sites.