title: Absence of imprinting in U2AFBPL, a human homologue of the imprinted mouse gene U2afbp-rs.
abstract: The mouse gene U2 auxiliary factor binding protein related sequence (U2afbp-rs) has previously been shown to be genomically imprinted with monoallelic expression from the paternal allele. To determine if the human homologue is imprinted and contains conserved structural features which regulate imprinting, we isolated genomic clones from a human P1-derived artificial chromosome (PAC) library that map to human chromosome 5q22-31, a region syntenic to the proximal portion of mouse chromosome 11 where U2afbp-rs resides. A genomic subclone was isolated which contained an open reading frame with high homology to the mouse gene. This subclone also maintained the intronless character of the mouse gene. A KpnI polymorphism within the open reading frame of the gene was found to occur in 21% (8/38) of the alleles tested from human placental tissue samples. RT-PCR analysis of human placentas using the KpnI polymorphism to determine the parental origin of the alleles indicates biallelic expression of the human chromosome 5 U2AFBPL gene.
authors.affiliation: Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, NY, USA.
authors.forename: R S
authors.initials: RS
authors.lastname: Pearsall
authors.forename: H
authors.initials: H
authors.lastname: Shibata
authors.forename: A
authors.initials: A
authors.lastname: Brozowska
authors.forename: K
authors.initials: K
authors.lastname: Yoshino
authors.forename: K
authors.initials: K
authors.lastname: Okuda
authors.forename: P J
authors.initials: PJ
authors.lastname: deJong
authors.forename: C
authors.initials: C
authors.lastname: Plass
authors.forename: V M
authors.initials: VM
authors.lastname: Chapman
authors.forename: Y
authors.initials: Y
authors.lastname: Hayashizaki
authors.forename: W A
authors.initials: WA
authors.lastname: Held
mesh_terms: D000483:Alleles; D000818:Animals; D002895:Chromosomes, Human, Pair 5; D017931:DNA Primers / Q000737:chemistry; D005796:Genes; D018392:Genomic Imprinting; D006801:Humans; D051379:Mice; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D010920:Placenta / Q000502:physiology; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping; D012261:Ribonucleoproteins / Q000235:genetics*; D017411:Ribonucleoproteins, Small Nuclear; D000072668:Splicing Factor U2AF
chemical_list: D017931:DNA Primers; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012261:Ribonucleoproteins; D017411:Ribonucleoproteins, Small Nuclear; D000072668:Splicing Factor U2AF; C098232:ZRSR2P1 protein, human; C000607495:Zrsr1 protein, mouse