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

ABSTRACT:

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 performed a systematic literature review, located the reported variants associated to Sotos syndrome along the gene domains, compared the sequences with close primates, calculated their similarity, Ka/Ks ratios, nucleotide diversity and selection, and analyzed the sequence and structural conservation with distant primates. We aimed to understand if NSD1 in humans differs fro

SUBMITTER: Romero VI 

PROVIDER: S-EPMC9783842 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature