DNA repair in man: Regulation by a multigene family and association with human disease

✍ Scribed by James E. Cleaver; Deneb Karentz

• Publisher: John Wiley and Sons
• Year: 1987
• Tongue: English
• Weight: 678 KB
• Volume: 6
• Category: Article
• ISSN: 0265-9247
• DOI: 10.1002/bies.950060307

✦ Synopsis

The major mechanism of repair of damage to D N A involves a conceptually simple process of enzymatic excision and resynthesis of small regions of D N A . In man and other mammals, this process is regulated by several gene loci: up to 15 mutually complementary genes or gene products may be involved. Repair deficiency results in an array of clinical symptoms in skin, central nervous system, and hematopoietic and immune systems, the major example being xeroderma pigmentosum (XP), a disease with a high incidence of cancer. Cloning repair genes by straightforward methods has proved dificult, but we have begun the eflort by demonstrating that correction of a human repair deficiency can be achieved by transferring very small fragments of

DNA from normal hamsters into XP cells. One of the complementation groups of X P cells (group C) appears to express a change in gene regulation such that these cells repair only a small clustered region of the D N A with high eficiency.