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How defects in 1 gene cause 3 distinct and devastating human diseases
Date:5/29/2008

s in XPD lock the protein into a rigid position. As a result, they said, the protein may stick in repair mode and cut out DNA at sites where it should be transcribing.

White agrees that CS seems to result from mutations that influence the XPD proteins flexibility. However, hes not yet sure exactly how that leads to the symptoms of CS.

The new insights into XPD point to the importance of whole proteins, not just their active sites.

Weve been able to characterize three activities together with the structure, Tainer said. Weve shown how mutations in the binding site alone can cause cancer. Scientists often thought it was just the active sites that were importantthat other changes wouldnt matter. But we see that other changes can lead to very severe defects.

The results also hold an important general lesson for the value of protein structure for understanding gene function. The results of the Human Genome Project have revealed associations between sequence mutations and particular diseases or disease risks, but in many cases we dont know why, Tainer said. As in the case of XPD, the protein structures may hold the key.


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Contact: Cathleen Genova
cgenova@cell.com
617-397-2802
Cell Press
Source:Eurekalert

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