Gene: maps to 12p13.3 (Muris D.A.R. et al., 1994).
mRNA: size:
Protein: the RAD52 gene encodes a 418-amino acid protein (Muris D.A.R. et al., 1994). Rad52 is essential for DNA double-stranded break repair and meiotic and mitotic recombination. Studies suggest that Rad52 is not required for the initiation of recombination, but is essential for the intermediate stage following the formation of double-strand breaks but before the appearance of stable recombinants (Park M.S. et al., 1996). Specific interaction between Rad52 and
Rad51 has been demonstrated, suggesting that Rad52 may modulate the catalytic activities of
Rad51 protein, this interaction being species-specific
Cell lines:
- No truncating mutations were found in
RAD51,
RAD52, and
RAD54, in 15 human breast cancer cell (BCC) lines (MDA-MB-157, -175-VI, -231, -415, -435, -436, -453, -468, MCF-7, MCF-7/Adr, UACC-893, T-47D, BT-483, -549, Hs578T (Bell D.W. et al., 1999).
Tumors:
- Loss of heterozygosity (LOH) was found in the RAD52 region in 14/90 (16%) breast tumors. LOH in this region was significantly correlated to
progesterone receptor negativity (Gonzalez R. et al., 1999).
-
RAD51,
RAD52, and
RAD54 were analysed for the presence of germ-line mutations in 100 cases with early-onset breast cancer. Two premature stop codons, ser346ter and Tyr415ter, were identified in germ-line
RAD52 alleles from 5% of early-onset breast cancer cases. Together, these two heterozygotous mutations were also found in 8% of a healthy control population, indicating that they do not confer an increased risk for breast cancer. A rare germ-line missense mutation was identified in
RAD54, whereas no sequence variants were found in
RAD51 (Bell D.W. et al., 1999).
Bell D.W. et al. (1999) Common nonsense mutations in
RAD52. Cancer Res. 59, 3883-3888.
Gonzalez R. et al. (1999) Detection of loss of heterozygosity at
RAD51, RAD52,
RAD54 and
BRCA1 and
BRCA2 loci in breast cancer: pathological correlations. Br. J. Cancer 81, 503-509.
Muris D.A.R. et al. (1994) Cloning of human and mouse genes homologous to RAD52, a yeast gene involved in DNA repair and recombination. Mutation Res. 315, 295-305.
Park M.S. (1995) Expression of human RAD52 confers resistance to ionizing radiation in mammalian cells. J. Biol. Chem 270, 15467-15470.
Park M.S. et al. (1996) Physical interaction between human RAD52 and RPA is required for homologous recombination in mammalian cells. J. Biol. Chem. 271, 18996-18200.
Shen Z. et al. (1996) Specific interaction between the human
RAD51 and RAD52 proteins. J. Biol. Chem. 271, 148-152.
