Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes

被引:49
作者
Lamerdin, JE [1 ]
Stilwagen, SA [1 ]
Ramirez, MH [1 ]
Stubbs, L [1 ]
Carrano, AV [1 ]
机构
[1] OAK RIDGE NATL LAB, DIV BIOL, OAK RIDGE, TN 37831 USA
关键词
D O I
10.1006/geno.1996.0303
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
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) tee 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. (C) 1996 Academic Press, Inc.
引用
收藏
页码:399 / 409
页数:11
相关论文
共 42 条
[21]   AUTOMATED DNA SEQUENCING AND ANALYSIS OF 106 KILOBASES FROM HUMAN CHROMOSOME-19Q13.3 [J].
MARTINGALLARDO, A ;
MCCOMBIE, WR ;
GOCAYNE, JD ;
FITZGERALD, MG ;
WALLACE, S ;
LEE, BMB ;
LAMERDIN, J ;
TRAPP, S ;
KELLEY, JM ;
LIU, LI ;
DUBNICK, M ;
JOHNSTONDOW, LA ;
KERLAVAGE, AR ;
DEJONG, P ;
CARRANO, A ;
FIELDS, C ;
VENTER, JC .
NATURE GENETICS, 1992, 1 (01) :34-39
[22]  
MARTINGALLARDO A, 1994, AUTOMATED DNA SEQUEN, P37
[23]   REFINED MAPPING OF THE 3 DNA-REPAIR GENES, ERCC1, ERCC2, AND XRCC1, ON HUMAN CHROMOSOME-19 [J].
MOHRENWEISER, HW ;
CARRANO, AV ;
FERTITTA, A ;
PERRY, B ;
THOMPSON, LH ;
TUCKER, JD ;
WEBER, CA .
CYTOGENETICS AND CELL GENETICS, 1989, 52 (1-2) :11-14
[24]  
MUZNY DM, 1994, AUTOMATED DNA SEQUEN, P182
[25]   ISOLATION AND CHARACTERIZATION OF CDNAS ENCODING HUMAN BRAIN ANKYRINS REVEAL A FAMILY OF ALTERNATIVELY SPLICED GENES [J].
OTTO, E ;
KUNIMOTO, M ;
MCLAUGHLIN, T ;
BENNETT, V .
JOURNAL OF CELL BIOLOGY, 1991, 114 (02) :241-253
[26]  
RICE PM, 1991, SEQUENCE ANAL PRIMER, P1
[27]   THE ERCC2/DNA REPAIR PROTEIN IS ASSOCIATED WITH THE CLASS-II BTF2/TFIIH TRANSCRIPTION FACTOR [J].
SCHAEFFER, L ;
MONCOLLIN, V ;
ROY, R ;
STAUB, A ;
MEZZINA, M ;
SARASIN, A ;
WEEDA, G ;
HOEIJMAKERS, JHJ ;
EGLY, JM .
EMBO JOURNAL, 1994, 13 (10) :2388-2392
[28]   IDENTIFICATION OF GLOBULAR MECHANOCHEMICAL HEADS OF KINESIN [J].
SCHOLEY, JM ;
HEUSER, J ;
YANG, JT ;
GOLDSTEIN, LSB .
NATURE, 1989, 338 (6213) :355-357
[29]   ANALYSIS OF VARIOUS MESSENGER-RNA POTENTIALLY INVOLVED IN CISPLATIN RESISTANCE OF MURINE LEUKEMIA L1210-CELLS [J].
SHEIBANI, N ;
EASTMAN, A .
CANCER LETTERS, 1990, 52 (03) :179-185
[30]  
SMEETS H, 1990, AM J HUM GENET, V46, P492