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Article

A TOPBP1 allele causing male infertility uncouples XY silencing dynamics from sex body formation.

eLife - 23 Feb 2024

Ascenção Carolline, Sims Jennie R, Dziubek Alexis, Comstock William, Fogarty Elizabeth A, Badar Jumana, Freire Raimundo, Grimson Andrew, Weiss Robert S, Cohen Paula E, Smolka Marcus B

Abstract excerpt

Meiotic sex chromosome inactivation (MSCI) is a critical feature of meiotic prophase I progression in males. While the ATR kinase and its activator TOPBP1 are key drivers of MSCI within the specialized sex body (SB) domain of the nucleus, how they promote silencing remains unclear given their multifaceted meiotic functions that also include DNA repair, chromosome synapsis, and SB formation. Here we report a novel...

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Identifiers

PMID: 38391183
DOI: 10.7554/eLife.90887
PMCID: PMC10942628

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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