The SWI/SNF Complex in Neural Crest Cell Development and Disease.
Annu Rev Genomics Hum Genet
; 24: 203-223, 2023 08 25.
Article
en En
| MEDLINE
| ID: mdl-37624665
ABSTRACT
While the neural crest cell population gives rise to an extraordinary array of derivatives, including elements of the craniofacial skeleton, skin pigmentation, and peripheral nervous system, it is today increasingly recognized that Schwann cell precursors are also multipotent. Two mammalian paralogs of the SWI/SNF (switch/sucrose nonfermentable) chromatin-remodeling complexes, BAF (Brg1-associated factors) and PBAF (polybromo-associated BAF), are critical for neural crest specification during normal mammalian development. There is increasing evidence that pathogenic variants in components of the BAF and PBAF complexes play central roles in the pathogenesis of neural crest-derived tumors. Transgenic mouse models demonstrate a temporal window early in development where pathogenic variants in Smarcb1 result in the formation of aggressive, poorly differentiated tumors, such as rhabdoid tumors. By contrast, later in development, homozygous inactivation of Smarcb1 requires additional pathogenic variants in tumor suppressor genes to drive the development of differentiated adult neoplasms derived from the neural crest, which have a comparatively good prognosis in humans.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Agresión
/
Cresta Neural
Tipo de estudio:
Prognostic_studies
Límite:
Adult
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Animals
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Humans
Idioma:
En
Año:
2023
Tipo del documento:
Article