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JCI online early table of contents: May 17, 2010
Date:5/10/2010

f Medicine, Baltimore, Maryland, USA.
Phone: 410.706.8040; Fax: 410.706.8121; E-mail: lizhang@som.umaryland.edu.

View this article at: http://www.jci.org/articles/view/40380?key=5d28ec5e44ef710a94f1


DEVELOPMENT: How HOXD13 is all fingers and thumbs

A team of researchers, led by Stefan Mundlos, at the Institute for Medical Genetics, Charit, Germany, has provided new insight into the molecular control of the formation of the bones that make up the hands and feet by studying mice carrying a mutant form of the protein HOXD13 that leads in humans to limb malformations, including a characteristic extra digit between digits 3 and 4 and a fusion between these digits.

Our bones are formed from one of two types of tissue: cortical bone or trabecular bone. In the study, it was found that the bones of the hands and feet of the HOXD13 mutant mice failed to develop as cortical bone, rather they aberrantly developed as trabecular bone. In addition, the bones of the hand took on characteristics of wrist bones. Further analyses identified several mechanisms by which the mutant HOXD13 affected bone formation, increasing our understanding of the variable limb malformations seen in individuals with mutations in HOXD13 and RUNX2.

TITLE: Homeobox genes d11d13 and a13 control mouse autopod cortical bone and joint formation

AUTHOR CONTACT:
Stefan Mundlos
Institute for Medical Genetics, Charit, Universittsmedizin Berlin, Berlin, Germany.
Phone: 49.30.450.569.121; Fax: 49.30.450.569.915; E-mail: stefan.mundlos@charite.de.

View this article at: http://www.jci.org/articles/view/41554?key=44fe92b173a11d73a694


HEMATOLOGY:
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Contact: Karen Honey
press_releases@the-jci.org
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Journal of Clinical Investigation
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