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A primary microcephaly-associated sas-6 mutation perturbs centrosome duplication, dendrite morphogenesis, and ciliogenesis in Caenorhabditis elegans.

Genetics - 9 Aug 2023

Bergwell Mary, Smith Amy, Smith Ellie, Dierlam Carter, Duran Ramon, Haastrup Erin, Napier-Jameson Rebekah, Seidel Rory, Potter William, Norris Adam, Iyer Jyoti

Abstract excerpt

The human SASS6(I62T) missense mutation has been linked with the incidence of primary microcephaly in a Pakistani family, although the mechanisms by which this mutation causes disease remain unclear. The SASS6(I62T) mutation corresponds to SAS-6(L69T) in Caenorhabditis elegans. Given that SAS-6 is highly conserved, we modeled this mutation in C. elegans and examined the sas-6(L69T) effect on centrosome...

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Identifiers

PMID: 37279547
DOI: 10.1093/genetics/iyad105
PMCID: PMC10411591

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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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