Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.
Nat Genet
; 16(3): 311-5, 1997 Jul.
Article
em En
| MEDLINE
| ID: mdl-9207801
ABSTRACT
Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth and genital development. We demonstrate that mutations in human TBX3, a member of the T-box gene family, cause ulnar-mammary syndrome in two families. Each mutation (a single nucleotide deletion and a splice-site mutation) is predicted to cause haploinsufficiency of TBX3, implying that critical levels of this transcription factor are required for morphogenesis of several organs. Limb abnormalities of ulnar-mammary syndrome involve posterior elements. Mutations in TBX5, a related and linked gene, cause anterior limb abnormalities in Holt-Oram syndrome. We suggest that during the evolution of TBX3 and TBX5 from a common ancestral gene, each has acquired specific yet complementary roles in patterning the mammalian upper limb.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Glândulas Apócrinas
/
Braço
/
Fatores de Transcrição
/
Anormalidades Múltiplas
/
Proteínas com Domínio T
/
Genitália
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
1997
Tipo de documento:
Article
País de afiliação:
Estados Unidos