Putting a finger on shortened digits
Apr 3, 2005 - 1:43:38 PM

Brachydactyly is a group of inherited disorders of the hands that are characterized by shortened fingers and abnormal joint formation.

In a paper appearing in the April 1 issue of The Journal of Clinical Investigation, Stefan Mundlos and colleagues from the Max Planck Institute for Molecular Genetics describe the analysis of a mouse model with limb mutations called short digits (Dsh).

The mice have disrupted Shh expression – a factor that helps skeletal formation. The result is that the mice have symptoms similar to human brachydactyly type A1. This is because the misexpression of Shh disrupts other factors with normally regulate joint development as well as the growth and patterning of the digits

Luis de la Fuente and Jill Helms write, in an accompanying commentary, that this study shows "that removal or expansion of one of the factors that contributes to the establishment of a boundary can cause a multitude of processes, including those that shape and control development of the skeleton, then go awry." The developmental pathology associated with Shh misexpression extends our understanding of the developmental pathology of digit development and thus of human brachydactyly.

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