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J Endocrinol Invest. 2010 Jun;33(6 Suppl):3-6.

A short history of the initial discovery of the SHOX gene.

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Department of Pediatrics, University of Parma, Parma, Italy.


Already in 1981 Davis had reported that small Yp terminal deletion resulted in short stature and, basing his findings on Davis's results, on the results of other publications, and on his own observations that Xp terminal deletions normally result in short stature regardless of the breakpoints, in 1993 Ogata suggested that a growth gene was located in the pseudoautosomal region (PAR) and that haploinsufficiency of the growth gene actually caused short stature as a dominant phenotype. Rao et al. in 1997 cloned a gene from the distal part of the PAR and gave it the name SHOX for "short stature homeobox-containing" gene. SHOX is expressed from an inactive X chromosome and an active X and a normal Y chromosome, indicating that SHOX produces the dosage effect in sex chromosome aberrations. In the same year, both Ellison and Rao demonstrated that SHOX is most clearly expressed in bone marrow fibroblasts, thus suggesting that SHOX has a particular importance in bone growth and maturation.

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