Drosophila homolog of the myotonic dystrophy-associated gene, SIX5, is required for muscle and gonad development.
Curr Biol
; 11(13): 1044-9, 2001 Jul 10.
Article
en En
| MEDLINE
| ID: mdl-11470409
SIX5 belongs to a family of highly conserved homeodomain transcription factors implicated in development and disease. The mammalian SIX5/SIX4 gene pair is likely to be involved in the development of mesodermal structures. Moreover, a variety of data have implicated human SIX5 dysfunction as a contributor to myotonic dystrophy type 1 (DM1), a condition characterized by a number of pathologies including muscle defects and testicular atrophy. However, this link remains controversial. Here, we investigate the Drosophila gene, D-Six4, which is the closest homolog to SIX5 of the three Drosophila Six family members. We show by mutant analysis that D-Six4 is required for the normal development of muscle and the mesodermal component of the gonad. Moreover, adult males with defective D-Six4 genes exhibit testicular reduction. We propose that D-Six4 directly or indirectly regulates genes involved in the cell recognition events required for myoblast fusion and the germline:soma interaction. While the exact phenotypic relationship between D-Six4 and SIX4/5 remains to be elucidated, the defects in D-Six4 mutant flies suggest that human SIX5 should be more strongly considered as being responsible for the muscle wasting and testicular atrophy phenotypes in DM1.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Testículo
/
Músculo Esquelético
/
Proteínas de Homeodominio
/
Regulación del Desarrollo de la Expresión Génica
/
Drosophila
/
Proteínas del Tejido Nervioso
Tipo de estudio:
Risk_factors_studies
Límite:
Animals
/
Humans
/
Male
Idioma:
En
Revista:
Curr Biol
Asunto de la revista:
BIOLOGIA
Año:
2001
Tipo del documento:
Article
País de afiliación:
Reino Unido
Pais de publicación:
Reino Unido