Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree

Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree.

CS: Cockayne syndrome ERCC5: Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene NER: Nucleotide excision repair UV: Ultraviolet WES: Whole exome sequencing XP: Xeroderma pigmentosum XP-G: Xeroderma pigmentosum complementation group G INTRODUCTION Xeroderma pigmentosum (XP) is an autosomal recessive genodermatosis caused by a germline loss of function in DN...

XPE ( xeroderma pigmentosum , complementation group

XPA ( xeroderma pigmentosum , complementation group A )

Initiates DNA repair by binding to damaged sites with various affinities, depending upon the chemical structure of the lesion. Two proteins have been identified and implicated in (one of) the first steps of Nucleotide Excision Repair (NER), i.e. the recognition of lesions in the DNA: the XPA gene product and the XPC gene product. Cells from XPA patients are extremely sensitive to UV and have ve...

XPC ( xeroderma pigmentosum , complementation group C )

Protein Description 939 amino acids. Expression Ubiquitous. Localisation Nuclear. Function Involved in the early recognition of DNA damage present in chromatine. Two proteins have been identified and implicated in (one of) the first steps of NER, i.e. the recognition of lesions in the DNA: the XPA gene product and the XPC gene product in complex with HR23B. This XPC-HR23B complex has been impli...

ERCC 4 ( xeroderma pigmentosum , complementation group F )

Xeroderma pigmentosum group F complementing factor; DNA-repair protein complementing XPF cells 905 amino acids; form a stable complex with the ERCC1 protein; The XPF protein and the ERCC1 protein form a complex that exhibits structure specific endonuclease activity that is responsible for the 5' incision during the NER reaction. XPF-ERCC1 also binds to XPA (through ERCC1) and to RPA (through XP...