| First Author | Sparrow DB | Year | 2012 |
| Journal | Cell | Volume | 149 |
| Issue | 2 | Pages | 295-306 |
| PubMed ID | 22484060 | Mgi Jnum | J:186213 |
| Mgi Id | MGI:5431196 | Doi | 10.1016/j.cell.2012.02.054 |
| Citation | Sparrow DB, et al. (2012) A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell 149(2):295-306 |
| abstractText | 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. |
