Chromosomal localization of three repair genes: The xeroderma pigmentosum group C gene and two human homologs of yeast RAD23

Journal Article · Sat Oct 01 04:00:00 EDT 1994 · Genomics

DOI:https://doi.org/10.1006/geno.1994.1554· OSTI ID:183701

Spek, P.J. van der; Smit, E M.E.; Beverloo, H B ^[1]

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1. Erasmus Univ., Rotterdam (Netherlands); and others

The nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) is characterized by sun (UV) sensitivity, predisposition to skin cancer, and extensive genetic heterogeneity. Recently, we reported the cloning and analysis of three human NER genes, XPC, HHR23A, and HHR23B. The previously cloned XPC gene is involved in the common XP complementation group C, which is defective in excision repair of nontranscribed sequences in the genome. The XPC protein was found to be complexed with the product of HHR23B, one of the two human homologs of the Saccharomyes cerevisiae NER gene RAD23. Here we present the chromosomal localization by in situ hybridization using haptenized probes of all three genes. The HHR23A gene was assigned to chromosome 19p13.2. Interestingly, the HHR23B and XPC genes, the product of which forms a tight complex, were found to colocalize on band 3p25.1. Pulsed-field gel electrophoresis revealed that the HHR23B and XPC genes possibly share a MluI restriction fragment of about 625 kb. Potential involvement of the HHR23 genes in human genetic disorders is discussed. 53 refs., 4 figs., 2 tabs.

• OSTI ID: 183701
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 23; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DNA HYBRIDIZATION
DNA REPAIR
DNA-CLONING
ELECTROPHORESIS
GENES
GENETIC MAPPING
GENETIC RADIATION EFFECTS
HEREDITARY DISEASES
HUMAN CHROMOSOME 19
HUMAN CHROMOSOME 3
MELANOMAS
PATIENTS
PROTEINS
RECESSIVE MUTATIONS
RFLPS
SACCHAROMYCES CEREVISIAE
ULTRAVIOLET RADIATION
XERODERMA PIGMENTOSUM