We have isolated human homologues of the imprinted mouse gene, U2af1-r
s1. Two different types of cDNAs and three distinct genomic DNAs belon
ging to different groups were isolated. We have identified chromosomal
genes corresponding to each cDNA by restriction mapping and sequencin
g. Using both a panel of rodent/human somatic cell hybrids and fluores
cence in situ hybridization, group 1 and group 2 genes were mapped to
chromosome 5q22 and chromosome Xp22.1, respectively. We designated gro
up 1 and group 2 genes as human U2AF1-RS1 and U2AF1-RS2, respectively,
because these genes corresponded to mouse U2af1-rs1 (chromosome 11) a
nd U2af1-rs2 (chromosome X), which we also isolated and mapped. Amino
acid sequences of human U2AF1-RS1 and U2AF-RS2 showed significant homo
logy 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. (C) 1995 Academic Press, Inc.