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Mutagenesis vol. 8 no. 3 pp. 199-205, 1993
© 1993 UK Environmental Mutagen Society/Oxford University Press

research-article

Regional mapping of human DNA excision repair gene ERCC4 to chromosome 16pl3.13–pl3.2

P. Liu, J. Siciliano, B. White, R. Legerski, D. Callen1, S. Reeders2, M.J. Siciliano4 and L.H. Thompson3

Department of Molecular Genetics, Box 45, The University of Texas M.D.Anderson Cancer Center 1515 Holcombe Blvd. Houston TX 77030, USA 1Cytogenetics Unit Adelaide Children's Hospital King William Street, North Adelaide, South Australia ,Australia 2Department of Nephrology, Yale University School of Medicine 333 Cedar Street, New Haven, CT06510, USA 3Biology and Biotechnology Research Program, L452, Lawrence Livermore National Laboratory Livermore CA 94551–9900, USA

Mitomycin C (MMC)-resistant interspecific somatic cell hybrids made between human cells and the MMC-sensitive, Chinese hamster ovary (CHO) excision repair-deficient UV41 cells generally contained human chromosome 16, while other human chromosomes were randomly present. MMC-sensitive and -resistant subclones were isolated from resistant clones and resistance generally segregated concordantly with human chromosome 16 markers. UV radiation survival analysis of subclones indicated that MMC and UV resistance were correlated. Therefore the complementing gene, Excision Repair Cross Complementing 4 (ERCC4) was assigned to human chromosome 16. Complementation of UV41 by human cells derived from patients with xeroderma pigmentosum groups A, C, D and F excluded ERCC4 from involvement in those disease syndromes. Resistant hybrids containing only portions of chromosome 16 were identified by the lack of concordance of multiple chromosome 16 markers. When such hybrids were used as a source of probe for fluorescent in situ hybridization onto normal human metaphases, the only region of chromosome 16 identified as being consistently present was 16pl3.1–pl3.3. Genetic marker analysis of informative hybrids with mapped probes refined the position of ERCC4 to 16pl3.13–pl3.2 and allowed the following order of markers within the region to be established: pter–(PRM1 D16S215)–D16S213–D16S53 –(D16S214,ERCC4)–D16S3–D16S96–cen

4To whom correspondence should be addressed


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