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Article

Homozygous deletion of SUN5 in three men with decapitated spermatozoa.

Human molecular genetics - 15 Aug 2017

Elkhatib Razan A, Paci Marine, Longepied Guy, Saias-Magnan Jacqueline, Courbière Blandine, Guichaoua Marie-Roberte, Lévy Nicolas, Metzler-Guillemain Catherine, Mitchell Michael J

Abstract excerpt

A recent study of 17 men with decapitated spermatozoa found that 8 carried two rare SUN5 alleles, and concluded that loss of SUN5 function causes the acephalic spermatozoa syndrome. Consistent with this, the SUN5 protein localises to the head-tail junction in normal spermatozoa, and SUN proteins are known to form links between the cytoskeleton and the nucleus. However, six of the ten SUN5 variants reported were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28541472
DOI: 10.1093/hmg/ddx200

Genes

SUN5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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