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However, this failure is not enough to explain all their symptoms. These results are published on July 4, in the journal Nature Communications. Xeroderma pigmentosum is a genetic disease that can result from a mutation in the gene coding for the XPC protein, a DNA damage sensor that recognizes lesions produced by ultraviolet rays. Patients who are very sensitive to the sun have an increased risk of skin cancer but also develop neurological or ocular disorders.

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These symptoms, originally associated with defects in DNA repair, Site de rencontre gratuit avis 2017 also be related to disturbances in transcription, a fundamental mechanism of gene expression. In normal cells, the researchers observed the presence of XPC on nearly genes. On the other hand, in cells derived from patients in whom XPC is defective, they showed that the expression of these genes was deregulated and that RNA polymerase II was no longer recruited correctly on their promoter, thus highlighting the link between the XPC factor and transcription. The researchers then analyzed histone modifications that are essential to the development of an ideal chromatin environment for gene expression.

The researchers observed that the acetylation of histone H3 in the genes targeted by XPC was deficient in its absence. Finally, they showed that the XPC protein was specifically recruited from the genes through its interaction with the E2F1 protein, a transcription factor recognizing particular DNA sequences present upstream of the promoters of the genes.

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