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Expression of SHOX in Human Fetal and Childhood Growth Plate

Endocrine Research Unit (C.J.F.M., M.T.H., J.A.B.), Royal Children’s Hospital Foundation Research Centre, and Department of Paediatrics and Child Health (C.J.F.M., H.R.H., L.M.C., M.T.H., J.A.B.), University of Queensland, Royal Children’s Hospital, Brisbane QLD 4029, Australia; Institute of Human Genetics (R.B., G.R.), Heidelberg University, 69120 Heidelberg, Germany; and Division of Genetics and Development (I.A.G.), Department of Pediatrics, University of Washington, Children’s Hospital and Regional Medical Center, Seattle, Washington 98112

Address all correspondence and requests for reprints to: Professor J. A. Batch, Endocrine Research Unit, Royal Children’s Hospital Foundation Research Centre, Royal Children’s Hospital, Brisbane QLD 4029, Australia. E-mail: j.batch{at}mailbox.uq.edu.au.

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.

This work was supported by grants from the Royal Children’s Hospital Foundation, the Australasian Paediatric Endocrine Group, and Novo Nordisk Pharmaceuticals. C.J.F.M. is the Royal Children’s Hospital Foundation/Woolworths Scholar.

Abbreviations: DAB, Diaminobenzidine; DIG, digoxigenin; FISH, fluorescence in situ hybridization; LWD, Leri Weill dyschondrosteosis; SSC, saline sodium citrate; TBS, Tris-buffered saline.

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