Abstract
TheERCC2(excision repair cross-complementing rodent repair group 2) gene product is involved in transcription-coupled repair as an integral member of the basal transcription factor BTF2/TFIIH complex. Defects in this gene can result in three distinct human disorders, namely the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. We report the comparative analysis of 91.6 kb of new sequence including 54.3 kb encompassing the humanERCC2locus, the syntenic region in the mouse (32.6 kb), and a further 4.7 kb of sequence 3′ of the previously reportedERCC2region in the hamster. In addition toERCC2,our analysis revealed the presence of two previously undescribed genes in all three species. The first is centromeric (in the human) toERCC2and is most similar to the kinesin light chain gene in sea urchin. The second gene is telomeric (in the human) toERCC2and contains a motif found in ankyrins, some cell cycle proteins, and transcription factors. Multiple EST matches to this putative new gene indicate that it is expressed in several human tissues, including breast. The identification and description of two new genes provides potential candidate genes for disorders mapping to this region of 19q13.2.
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