A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development. - Archive ouverte HAL Access content directly
Journal Articles Proceedings of the National Academy of Sciences of the United States of America Year : 2006

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

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.

Dates and versions

hal-00187862 , version 1 (15-11-2007)

Identifiers

Cite

John Cobb, Andrée Dierich, Yolande Huss-Garcia, Denis Duboule. A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development.. Proceedings of the National Academy of Sciences of the United States of America, 2006, 103 (12), pp.4511-5. ⟨10.1073/pnas.0510544103⟩. ⟨hal-00187862⟩
16 View
0 Download

Altmetric

Share

Gmail Facebook X LinkedIn More