TY - JOUR
T1 - Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes
AU - Lamerdin, Jane E.
AU - Stilwagen, Stephanie A.
AU - Ramirez, Melissa H.
AU - Stubbs, Lisa
AU - Carrano, Anthony V.
N1 - Funding Information:
The authors thank Dr. Christine Weber for providing the pCXPD-3 cosmid and helpful discussions relating to this work and Dr. Elbert Branscomb for critical reading of this manuscript. We also thank Bill Dunn, Aaron Adamson, Mishelle Montgomery, and Subha Basu for excellent technical assistance. This work was performed under the auspices of the U.S. Department of Energy by Lawrence Livermore National Laboratory under Contract No. W-7405-ENG-48 and under Contract DE-AC0584OR21400 with Lockheed-Martin Energy Systems, Inc., at the Oak Ridge National Laboratory.
PY - 1996/6/15
Y1 - 1996/6/15
N2 - 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/FIIH 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.
AB - 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/FIIH 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.
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U2 - 10.1006/geno.1996.0303
DO - 10.1006/geno.1996.0303
M3 - Article
C2 - 8786141
AN - SCOPUS:0030585760
SN - 0888-7543
VL - 34
SP - 399
EP - 409
JO - Genomics
JF - Genomics
IS - 3
ER -