Background information
DNA repair proteins are necessary for the maintenance of chromosome integrity and are involved in the elimination of premutagenic lesions from DNA. The DNA repair proteins Rad51 and Rad52 are key components of the double-strand-break repair (DSBR) pathway. Rad51 is essential for mitotic and meiotic recombination, and its mutation in yeast and mammalian cells results in chromosome loss. Overexpression of Rad52 confers resistance to ionizing radiation and induces homologous intrachromosomal recombination. Rad52 is thought to be involved in an early stage of Rad51-mediated recombination. Additional proteins involved in the pathway include Nibrin and Dmc1. Nibrin, which complexes with Mre11 and Rad50, is absent in Nijemegen breakage syndrome (NBS) patients. Dmc1 is specifically involved in meiotic recombination. An alternative spliced form of Dmc1, designated Dmc1-D, is deleted for a region between the two motifs involved in nucleotide binding. The alternatively spliced Dmc1-D transcript is detected in both male and female germ cells, indicating that the encoded protein may have a role in mammalian genetic recombination in meiosis.
