Mutant COMP shapes growth and development of skull and facial structures in mice and humans.

ABSTRACT:

Background

Cartilage oligomeric matrix protein (COMP) is an important extracellular matrix protein primarily functioning in the musculoskeletal tissues and especially endochondral bone growth. Mutations in COMP cause the skeletal dysplasia pseudoachondroplasia (PSACH) that is characterized by short limbs and fingers, joint laxity, and abnormalities but a striking lack of skull and facial abnormalities.

Methods

This study examined both mice and humans to determine how mutant-COMP affects face and skull growth.

Results

Mutant COMP (MT-COMP) mice were phenotypically distinct. Snout length and skull height were diminished in MT-COMP mouse and the face more closely resembled younger controls. Three-dimensional facial measurements of PSACH faces showed widely spaced eyes, r

SUBMITTER: Burger A 

PROVIDER: S-EPMC7336729 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature