Sparrow, Duncan B and Chapman, Gavin and Smith, Allanceson J and Mattar, Muhammad Z and Major, Joelene A and O'Reilly, Victoria C and Saga, Yumiko and Zackai, Elaine H and Dormans, John P and Alman, Benjamin A and McGregor, Lesley and Kageyama, Ryoichiro and Kusumi, Kenro and Dunwoodie, Sally L (2012) A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell, 149 (2). pp.295-306. ISSN 1097-4172 (OA)
Full text not available from this repository.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.
(NHMRC Senior Research Fellowship grant 514900)
| Item Type: | Article |
|---|---|
| Subjects: | R Medicine > R Medicine (General) |
| Depositing User: | Repository Administrator |
| Date Deposited: | 21 Dec 2015 05:09 |
| Last Modified: | 08 Mar 2016 00:30 |
| URI: | https://eprints.victorchang.edu.au/id/eprint/31 |
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