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Rare Dis. 2015 Aug 7;3(1):e1079362. doi: 10.1080/21675511.2015.1079362. eCollection 2015.

A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome.

Author information

1
Centro Andaluz de Biología Molecular y Medicina Regenerativa CABIMER; Universidad de Sevilla ; Seville, Spain ; Institute of Human Genetics; CNRS-UPR1142 ; Montpellier, France.
2
Centro Andaluz de Biología Molecular y Medicina Regenerativa CABIMER; Universidad de Sevilla ; Seville, Spain.

Abstract

Nucleotide Excision Repair (NER) is a pathway that removes lesions distorting the DNA helix. The molecular basis of the rare diseases Xeroderma pigmentosum (XP) and Cockayne Syndrome (CS) are explained based on the defects happening in 2 NER branches: Global-Genome Repair and Transcription-Coupled Repair, respectively. Nevertheless, both afflictions sporadically occur together, giving rise to XP/CS; however, the molecular basis of XP/CS is not understood very well. Many efforts have been made to clarify why mutations in only 4 NER genes, namely XPB, XPD, XPF and XPG, are the basis of this disease. Effort has also been made to unravel why mutations within these genes lead to XP, XP/CS, or other pathologies. We have recently contributed to the disclosure of this puzzle by characterizing Rad3/XPD mutations in Saccharomyces cerevisiae and human cells. Based on our, and others', observations, we propose a model compatible with all XP/CS cases and the current bibliography.

KEYWORDS:

CAK; Cockayne Syndrome; Rad3/XPD; XPB; XPG; Xeroderma pigmentosum; nucleotide excision repair (NER)

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