Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function.

ABSTRACT:

Background

Sumoylation is a posttranslational reversible modification of cellular proteins through the conjugation of small ubiquitin-related modifier (SUMO) and comprises an important regulator of protein function.

Objective

We sought to characterize the molecular mechanism of a novel mutation at the SUMO motif on signal transducer and activator of transcription 1 (STAT1).

Methods

STAT1 sequencing and functional characterization were performed in transfection experiments by using immunoblotting and immunoprecipitation in STAT1-deficient cell lines. Transcriptional response and target gene activation were also investigated in PBMCs.

Results

We identified a novel STAT1 mutation (c.2114A>T, p.E705V) within the SUMO motif (⁷⁰²IKTE⁷⁰⁵) in a pa

SUBMITTER: Sampaio EP 

PROVIDER: S-EPMC5832513 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature