Complementation of DNA repair defect in xeroderma pigmentosum cells of group C by the transfer of human chromosome 5

Journal Article · Fri Jan 01 04:00:00 EST 1993 · Somatic Cell and Molecular Genetics; (United States)

DOI:https://doi.org/10.1007/BF01233957· OSTI ID:6616178

Kaur, G P; Athwal, R S ^[1]

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1. New Jersey Medical School, Newark (United States)

Complementation of DNA excision repair defect in xeroderma pigmentosum cells of group C (XP-C) has been achieved by the transfer of human chromosome 5. Individual human chromosomes tagged with a selectable marker were transferred to XP-C cells by microcell fusion from mouse-human hybrid cell lines each bearing a single different human chromosome. Analysis of the chromosome transfer clones revealed that introduction of chromosome 5 into XP-C cells corrected the DNA repair defect as well as UV-sensitive phenotypes, while chromosomes 2, 6, 7, 9, 13, 15, 17, and 21 failed to complement. The introduced chromosome 5 in complemented UV[sup r] clones was distinguished from the parental XP-C chromosomes by polymorphism for dinucleotide (CA)[sub n] repeats at two loci, D5S117 and D5S209. In addition, an intact marked chromosome 5 was rescued into mouse cells from a complemented UV[sup r] clone by microcell fusion. Five subclones of a complemented clone that had lost the marked chromosome 5 exhibited UV-sensitive and repair-deficient phenotypes identical to parental XP-C cells. Concordant loss of the transferred chromosome and reappearance of XP-C phenotype further confirmed the presence of a DNA repair gene on human chromosome 5. 38 refs., 7 figs., 1 tab.

• OSTI ID: 6616178
• Journal Information: Somatic Cell and Molecular Genetics; (United States), Journal Name: Somatic Cell and Molecular Genetics; (United States) Vol. 19:1; ISSN 0740-7750; ISSN SCMGDN
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BIOLOGICAL RECOVERY
BIOLOGICAL REPAIR
CHROMOSOMES
DISEASES
DNA REPAIR
ELECTROMAGNETIC RADIATION
EXCISION REPAIR
GENES
GENETIC MAPPING
HUMAN CHROMOSOME 5
HUMAN CHROMOSOMES
MAPPING
RADIATIONS
REPAIR
SENSITIVITY
SKIN DISEASES
ULTRAVIOLET RADIATION
XERODERMA PIGMENTOSUM