Expression of SHOX in human fetal and childhood growth plate

Munns, C. J. F., Haase, H. R., Crowther, L. M., Hayes, M. T., Blaschke, R., Rappold, G., Glass, I. A. and Batch, J. A. (2004) Expression of SHOX in human fetal and childhood growth plate. Journal of Clinical Endocrinology and Metabolism, 89 8: 4130-4135. doi:10.1210/jc.2003-032230


Author Munns, C. J. F.
Haase, H. R.
Crowther, L. M.
Hayes, M. T.
Blaschke, R.
Rappold, G.
Glass, I. A.
Batch, J. A.
Title Expression of SHOX in human fetal and childhood growth plate
Journal name Journal of Clinical Endocrinology and Metabolism   Check publisher's open access policy
ISSN 0021-972X
Publication date 2004
Sub-type Article (original research)
DOI 10.1210/jc.2003-032230
Volume 89
Issue 8
Start page 4130
End page 4135
Total pages 6
Editor J. Bilezikian
P. Meravy
Place of publication Chevy Chase, U.S.A.
Publisher Endocrine Society
Collection year 2004
Language eng
Subject C1
321019 Paediatrics
730204 Child health
Abstract Abnormalities in the growth plate may lead to short stature and skeletal deformity including Leri Weil syndrome, which has been shown to result from deletions or mutations in the SHOX gene, a homeobox gene located at the pseudoautosomal region of the X and Y chromosome. We studied the expression of SHOX protein, by immunohistochemistry, in human fetal and childhood growth plates and mRNA by in situ hybridization in childhood normal and Leri Weil growth plate. SHOX protein was found in reserve, proliferative, and hypertrophic zones of fetal growth plate from 12 wk to term and childhood control and Leri Weil growth plates. The pattern of immunostaining in the proliferative zone of childhood growth plate was patchy, with more intense uniform immunostaining in the hypertrophic zone. In situ hybridization studies of childhood growth plate demonstrated SHOX mRNA expression throughout the growth plate. No difference in the pattern of SHOX protein or mRNA expression was seen between the control and Leri Weil growth plate. These findings suggest that SHOX plays a role in chondrocyte function in the growth plate.
Keyword Endocrinology & Metabolism
Homeobox Gene Shox
Turner-syndrome
Short Stature
Leri-weill
Madelung Deformity
Dyschondrosteosis
Haploinsufficiency
Mutations
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2005 Higher Education Research Data Collection
School of Medicine Publications
 
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Created: Wed, 15 Aug 2007, 04:25:37 EST