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Article

NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.

BMC genomics - 22 Dec 2022

Romero Vanessa I, Arias-Almeida Benjamin, Aguiar Stefanie A

Abstract excerpt

BACKGROUND: Modern human brains and skull shapes differ from other hominids. Brain growth disorders as micro- (ASPM, MCPH1) and macrocephaly (NFIX, GLI3) have been highlighted as relevant for the evolution in humans due to the impact in early brain development. Genes associated with macrocephaly have been reported to cause this change, for example NSD1 which causes Sotos syndrome. RESULTS: In this study we...

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Identifiers

PMID: 36550402
DOI: 10.1186/s12864-022-09071-w
PMCID: PMC9783842

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