C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle.
Nat Commun
; 6: 6894, 2015 Apr 23.
Article
in En
| MEDLINE
| ID: mdl-25902731
ABSTRACT
Caprine-like Generalized Hypoplasia Syndrome (SHGC) is an autosomal-recessive disorder in Montbéliarde cattle. Affected animals present a wide range of clinical features that include the following delayed development with low birth weight, hind limb muscular hypoplasia, caprine-like thin head and partial coat depigmentation. Here we show that SHGC is caused by a truncating mutation in the CEP250 gene that encodes the centrosomal protein C-Nap1. This mutation results in centrosome splitting, which neither affects centriole ultrastructure and duplication in dividing cells nor centriole function in cilium assembly and mitotic spindle organization. Loss of C-Nap1-mediated centriole cohesion leads to an altered cell migration phenotype. This discovery extends the range of loci that constitute the spectrum of autosomal primary recessive microcephaly (MCPH) and Seckel-like syndromes.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cattle Diseases
/
Cell Movement
/
Centrioles
/
Hypopigmentation
/
Cell Cycle Proteins
/
Microcephaly
/
Morphogenesis
/
Muscular Diseases
Type of study:
Risk_factors_studies
Limits:
Animals
Language:
En
Journal:
Nat Commun
Journal subject:
BIOLOGIA
/
CIENCIA
Year:
2015
Document type:
Article
Affiliation country:
France