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  • Title: A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development.
    Author: Cobb J, Dierich A, Huss-Garcia Y, Duboule D.
    Journal: Proc Natl Acad Sci U S A; 2006 Mar 21; 103(12):4511-5. PubMed ID: 16537395.
    Abstract:
    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.
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