The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression.
Tissue Cell
; 64: 101369, 2020 Jun.
Article
em En
| MEDLINE
| ID: mdl-32473706
ABSTRACT
Oral-Facial-Digital type I (OFD1) is a rare inherited form of renal cystic disease associated with ciliary dysfunction. This disorder is due to mutations in the OFD1 gene that encodes a protein localized to centrosomes and basal bodies in different cell types. Immunofluorescence analysis demonstrated that OFD1 displays a dynamic distribution during cell cycle. High-content microscopy analysis of Ofd1-depleted fibroblasts revealed impaired cell cycle progression. Immunofluorescence analysis and cell proliferation assays also indicated the presence of a variety of defects such as centrosome accumulation, nuclear abnormalities and aneuploidy. In addition, Ofd1-depleted cells displayed an abnormal microtubule network that may underlie these defects. All together our results suggest that OFD1 contributes to the function of the microtubule organizing center (MTOC) in the cell, controlling cell cycle progression both in vitro and in vivo.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Orofaciodigitais
/
Proteínas
/
Centro Organizador dos Microtúbulos
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Tissue Cell
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Itália