The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.

ABSTRACT:

Background

Distal arthrogryposis (DA) is comprised of a group of rare developmental disorders in muscle, characterized by multiple congenital contractures of the distal limbs. Fast skeletal muscle troponin-T (TNNT3) protein is abundantly expressed in skeletal muscle and plays an important role in DA. Missense variants in TNNT3 are associated with DA, but few studies have fully clarified its pathogenic role.

Methods

Sanger sequencing was performed in three generation of a Chinese family with DA. To determine how the p.R63C variant contributed to DA, we identified a variant in TNNT3 (NM_006757.4): c.187C>T (p.R63C). And then we investigated the effects of the arginine to cysteine substitution on the distribution pattern and the half-life of TNNT3 protein.

Results

The pr

SUBMITTER: Lu J 

PROVIDER: S-EPMC8649346 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature