Turner Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Turner Syndrome, including details on symptoms, causes, chromosomes, prognosis.

A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development.

Cobb J, Dierich A, Huss-Garcia Y, Duboule D

Department of Zoology and Animal Biology and National Research Center Frontiers in Genetics, Sciences III, University of Geneva, Quai Ernest Ansermet 30, 1211 Geneva 4, Switzerland.

Deficiencies or mutations in the human pseudoautosomal SHOX gene are associated with a series of short-stature conditions, including Turner syndrome, Leri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. Although this gene is absent from the mouse genome, the closely related paralogous gene Shox2 displays a similar expression pattern in developing limbs. Here, we report that the conditional inactivation of Shox2 in developing appendages leads to a strong phenotype, similar to the human conditions, although it affects a different proximodistal limb segment. Furthermore, using this mouse model, we establish the cellular etiology of these defects and show that Shox2 acts upstream the Runx2 gene, a key regulator of chondrogenesis.

Published 22 March 2006 in Proc Natl Acad Sci U S A, 103(12): 4511-5.
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