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A mechanism for gene-environment interaction in the etiology of congenital scoliosis.

Publication ,  Journal Article
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 ...
Published in: Cell
April 13, 2012

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.

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Published In

Cell

DOI

EISSN

1097-4172

Publication Date

April 13, 2012

Volume

149

Issue

2

Start / End Page

295 / 306

Location

United States

Related Subject Headings

  • Spine
  • Signal Transduction
  • Scoliosis
  • Receptors, Notch
  • Penetrance
  • Pedigree
  • Mice, Inbred C57BL
  • Mice
  • Mesoderm
  • Male
 

Citation

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Sparrow, D. B., Chapman, G., Smith, A. J., Mattar, M. Z., Major, J. A., O’Reilly, V. C., … Dunwoodie, S. L. (2012). A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell, 149(2), 295–306. https://doi.org/10.1016/j.cell.2012.02.054
Sparrow, Duncan B., Gavin Chapman, Allanceson J. Smith, Muhammad Z. Mattar, Joelene A. Major, Victoria C. O’Reilly, Yumiko Saga, et al. “A mechanism for gene-environment interaction in the etiology of congenital scoliosis.Cell 149, no. 2 (April 13, 2012): 295–306. https://doi.org/10.1016/j.cell.2012.02.054.
Sparrow DB, Chapman G, Smith AJ, Mattar MZ, Major JA, O’Reilly VC, et al. A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell. 2012 Apr 13;149(2):295–306.
Sparrow, Duncan B., et al. “A mechanism for gene-environment interaction in the etiology of congenital scoliosis.Cell, vol. 149, no. 2, Apr. 2012, pp. 295–306. Pubmed, doi:10.1016/j.cell.2012.02.054.
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 SL. A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell. 2012 Apr 13;149(2):295–306.
Journal cover image

Published In

Cell

DOI

EISSN

1097-4172

Publication Date

April 13, 2012

Volume

149

Issue

2

Start / End Page

295 / 306

Location

United States

Related Subject Headings

  • Spine
  • Signal Transduction
  • Scoliosis
  • Receptors, Notch
  • Penetrance
  • Pedigree
  • Mice, Inbred C57BL
  • Mice
  • Mesoderm
  • Male