A mechanism for gene-environment interaction in the etiology of congenital scoliosis.
Cell
; 149(2): 295-306, 2012 Apr 13.
Article
en En
| MEDLINE
| ID: mdl-22484060
ABSTRACT
Congenital scoliosis, a lateral curvature of the spine caused by vertebral defects, occurs in approximately 1 in 1,000 live births. Here we demonstrate that haploinsufficiency of Notch signaling pathway genes in humans can cause this congenital abnormality. We also show that in a mouse model, the combination of this genetic risk factor with an environmental condition (short-term gestational hypoxia) significantly increases the penetrance and severity of vertebral defects. We demonstrate that hypoxia disrupts FGF signaling, leading to a temporary failure of embryonic somitogenesis. Our results potentially provide a mechanism for the genesis of a host of common sporadic congenital abnormalities through gene-environment interaction.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Escoliosis
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Interacción Gen-Ambiente
Tipo de estudio:
Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Animals
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Female
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Humans
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Male
Idioma:
En
Año:
2012
Tipo del documento:
Article