RNA-binding proteins in Mendelian disease.
Trends Genet
; 29(5): 318-27, 2013 May.
Article
en En
| MEDLINE
| ID: mdl-23415593
ABSTRACT
RNA-binding proteins (RBPs) control all aspects of RNA fate, and defects in their function underlie a broad spectrum of human pathologies. We focus here on two recent studies that uncovered the in vivo mRNA interactomes of human cells, jointly implicating over 1100 proteins in RNA binding. Surprisingly, over 350 of these RBPs had no prior RNA binding-related annotation or domain homology. The datasets also contain many proteins that, when mutated, cause Mendelian diseases, prominently neurological, sensory, and muscular disorders and cancers. Disease mutations in these proteins occur throughout their domain architectures and many are found in non-classical RNA-binding domains and in disordered regions. In some cases, mutations might cause disease through perturbing previously unknown RNA-related protein functions. These studies have thus expanded our knowledge of RBPs and their role in genetic diseases. We also expect that mRNA interactome capture approaches will aid further exploration of RNA systems biology in varied physiological and pathophysiological settings.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
ARN Mensajero
/
Proteínas de Unión al ARN
/
Enfermedades Genéticas Congénitas
Límite:
Humans
Idioma:
En
Revista:
Trends Genet
Asunto de la revista:
GENETICA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Alemania