Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
Am J Hum Genet
; 88(1): 70-5, 2011 Jan 07.
Article
en En
| MEDLINE
| ID: mdl-21167467
Indian hedgehog (IHH) is a secreted signaling molecule of the hedgehog family known to play important roles in the regulation of chondrocyte differentiation, cortical bone formation, and the development of joints. Here, we describe that copy-number variations of the IHH locus involving conserved noncoding elements (CNEs) are associated with syndactyly and craniosynostosis. These CNEs are able to drive reporter gene expression in a pattern highly similar to wild-type Ihh expression. We postulate that the observed duplications lead to a misexpression and/or overexpression of IHH and by this affect the complex regulatory signaling network during digit and skull development.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Sindactilia
/
Duplicación de Gen
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Craneosinostosis
/
Proteínas Hedgehog
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Sitios Genéticos
/
Variaciones en el Número de Copia de ADN
Tipo de estudio:
Risk_factors_studies
Límite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Hum Genet
Año:
2011
Tipo del documento:
Article
País de afiliación:
Alemania