A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (<i>NFIX</i>) Gene Has Phenotypic Features of Marshall-Smith Syndrome.

ABSTRACT: The nuclear factor I/X (NFIX) gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities, namely, Malan syndrome (MAL) and Marshall-Smith syndrome (MSS). NFIX mutations associated with MAL mainly cluster in exon 2 and are cleared by nonsense-mediated decay (NMD) leading to NFIX haploinsufficiency, whereas NFIX mutations associated with MSS are clustered in exons 6-10 and escape NMD and result in the production of dominant-negative mutant NFIX proteins. Thus, different NFIX mutations have distinct consequences on NFIX expression. To elucidate the in vivo effects of MSS-associated NFIX exon 7 mutations, we used CRISPR-Cas9 to genera

SUBMITTER: Kooblall KG 

PROVIDER: S-EPMC10241085 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature