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

By studying heat-loving microbes, two research teams have gained new insight into how seemingly small differences in a single protein involved in DNA transcription and repair can lead to strikingly different genetic disorders in humans.

The two studies in the May 30th issue of Cell, a Cell Press publication, uncover the crystal structure and biochemical activity of an enzyme known as XPD helicase taken from Sulfolobus archaea, microbes distinct from bacteria that share many fundamental genes with humans. For reasons that had remained rather mysterious until now, point mutations in human XPDsometimes at neighboring sitescan spell the difference between cancer-prone xeroderma pigmentosa, the aging disorder known as Cockayne syndrome and another aging disorder called trichothiodystrophy.

If you consider the linear sequence of XPD and map the [disease-linked] point mutations onto it, there is nothing clear about why they would be causative for one of the three diseases or another, said Jill Fuss of The Scripps Research Institute. By having these structures for XPD, we suddenly see how it is working.

The protein from archaea is a simplified model, but that doesnt stop us learning a lot about the biology of the human enzyme, said Malcolm White of University of St Andrews, who led the other study. Archaeal protein structures are often very close matches to the equivalent proteins from humans, even though they diverged from one another three billion years ago. We can learn a lot about human health by looking deep into evolutionary time.

Archaea have particular similarities with humans and other eukaryotes in the way in which they process information, including DNA replication, transcription and repair, White explained. One of those common elements is XPD helicase, a component of a fundamental complex (known as TFIIH) with roles in initiating the transcription of genes into the templates for protein and in the repair of damaged DNA.
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Contact: Cathleen Genova
cgenova@cell.com
617-397-2802
Cell Press
Source:Eurekalert

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