Isolation and mapping of human homologues of an imprinted mouse gene U2af1-rs1.

We have isolated human homologues of the imprinted mouse gene, U2af1-rs1. Two different types of cDNAs and three distinct genomic DNAs belonging to different groups were isolated. We have identified chromosomal genes corresponding to each cDNA by restriction mapping and sequencing. Using both a panel of rodent/human somatic cell hybrids and fluorescence in situ hybridization, group 1 and group 2 genes were mapped to chromosome 5q22 and chromosome Xp22.1, respectively. We designated group 1 and group 2 genes as human U2AF1-RS1 and U2AF1-RS2, respectively, because these genes corresponded to mouse U2af1-rs1 (chromosome 11) and U2af1-rs2 (chromosome X), which we also isolated and mapped. Amino acid sequences of human U2AF1-RS1 and U2AF-RS2 showed significant homology to U2AF small subunit. The group 3 gene, designated as U2AF1-RS3, of which the cDNA has not yet been isolated, was mapped to chromosome 19p13.2.