title: Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes.
abstract: The ERCC2 (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 human ERCC2 locus, the syntenic region in the mouse (32.6 kb), and a further 4.7 kb of sequence 3' of the previously reported ERCC2 region in the hamster. In addition to ERCC2, our analysis revealed the presence of two previously undescribed genes in all three species. The first is centromeric (in the human) to ERCC2 and is most similar to the kinesin light chain gene in sea urchin. The second gene is telomeric (in the human) to ERCC2 and 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.
authors.affiliation: Human Genome Center, Lawrence Livermore National Laboratory, Livermore, California, 94550, USA.
authors.forename: J E
authors.initials: JE
authors.lastname: Lamerdin
authors.forename: S A
authors.initials: SA
authors.lastname: Stilwagen
authors.forename: M H
authors.initials: MH
authors.lastname: Ramirez
authors.forename: L
authors.initials: L
authors.lastname: Stubbs
authors.forename: A V
authors.initials: AV
authors.lastname: Carrano
mesh_terms: D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D003001:Cloning, Molecular; D003057:Cockayne Syndrome / Q000235:genetics; D017124:Conserved Sequence; D003360:Cosmids; D006224:Cricetinae; D004265:DNA Helicases; D017931:DNA Primers; D004260:DNA Repair / Q000235:genetics*; D004276:DNA, Satellite / Q000235:genetics; D004268:DNA-Binding Proteins; D004198:Disease Susceptibility; D005091:Exons; D005816:Genetic Complementation Test; D008040:Genetic Linkage; D006197:Hair / Q000002:abnormalities; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D007438:Introns; D016547:Kinesins / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D009369:Neoplasms / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011506:Proteins / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D012617:Sea Urchins / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid; D016385:TATA Box; D014157:Transcription Factors / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000235:genetics; D051759:Xeroderma Pigmentosum Group D Protein
chemical_list: D017931:DNA Primers; D004276:DNA, Satellite; D004268:DNA-Binding Proteins; D011506:Proteins; D014157:Transcription Factors; D004265:DNA Helicases; D051759:Xeroderma Pigmentosum Group D Protein; D016547:Kinesins; C497292:ERCC2 protein, human; C497293:Ercc2 protein, mouse