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.
journal_name
Celljournal_title
Cellauthors
Sparrow DB,Chapman G,Smith AJ,Mattar MZ,Major JA,O'Reilly VC,Saga Y,Zackai EH,Dormans JP,Alman BA,McGregor L,Kageyama R,Kusumi K,Dunwoodie SLdoi
10.1016/j.cell.2012.02.054subject
Has Abstractpub_date
2012-04-13 00:00:00pages
295-306issue
2eissn
0092-8674issn
1097-4172pii
S0092-8674(12)00354-6journal_volume
149pub_type
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