Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.
Proc Natl Acad Sci U S A
; 99(11): 7548-53, 2002 May 28.
Article
en En
| MEDLINE
| ID: mdl-12032320
ABSTRACT
Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits. Here we identify a translocation breakpoint in a PPD patient and a transgenic insertion site in the polydactylous mouse mutant sasquatch (Ssq). The genetic lesions in both lie within the same respective intron of the LMBR1/Lmbr1 gene, which resides approximately 1 Mb away from Shh. Genetic analysis of Ssq reveals that the Lmbr1 gene is incidental to the phenotype and that the mutation directly interrupts a cis-acting regulator of Shh. This regulator is most likely the target for generating PPD mutations in human.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Intrones
/
Transactivadores
/
Polidactilia
/
Proteínas de la Membrana
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Proc Natl Acad Sci U S A
Año:
2002
Tipo del documento:
Article
País de afiliación:
Reino Unido