Heterozygous <i>De Novo</i> Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization.

ABSTRACT: Nucleolin (NCL/C23; OMIM: 164035) is a major nucleolar protein that plays a critical role in multiple processes, including ribosome assembly and maturation, chromatin decondensation, and pre-rRNA transcription. Due to its diverse functions, nucleolin has frequently been implicated in pathological processes, including cancer and viral infection. We recently identified a de novo frameshifting indel mutation of NCL, p.Gly664Glufs*70, through whole-exome sequencing of autism spectrum disorder trios. Through the transfection of constructs encoding either a wild-type human nucleolin or a mutant nucleolin with the same C-terminal sequence predicted for the autism proband, and by using co-localization with the nucleophosmin (NPM; B23) protein, we have shown that the nucleolin mutatio

SUBMITTER: Sheikh TI 

PROVIDER: S-EPMC8774667 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature