pqn-85 encodes an ortholog of budding yeast Scc2p, Drosophila NIPPED-B,and human NIPBL (OMIM:608667, mutated in Cornelia de Lange syndrome)that is required for resistance to double-stranded DNA breakage; PQN-85is also required, with MAU-2 and SCC-3, for normal chromosomesegregation and embryonic viability; pqn-85(RNAi) induceshypersensitivity to double-stranded breaks in DNA (manifested byabnormal sterility induced by ionizing radiation, cisplatin, orcamptothecin); pqn-85(RNAi) of early embryos produces lagging ofanaphase chromosomes and 100% embryonic lethality; pqn-85(RNAi) isphenotypically enhanced by joint RNAi with mau-2, and jointpqn-85/scc-3(RNAi) grossly deranges chromosomal segregation in earlyembryos; by orthology with NIPPED-B, PQN-85 might also enable regulatoryinteractions between promoters and distant enhancers by antagonizingSCC-3.
Enables cohesin loader activity. Involved in several processes, including chromosome organization; double-strand break repair involved in meiotic recombination; and regulation of cell cycle process. Located in chromosome and nucleus. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 1. Is an ortholog of human NIPBL (NIPBL cohesin loading factor).
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.