title: Characterization of a widely expressed gene (LUC7-LIKE; LUC7L) defining the centromeric boundary of the human alpha-globin domain.
abstract: We have identified the first gene lying on the centromeric side of the alpha-globin gene cluster on human 16p13.3. The gene, called 16pHQG;16 (HGMW-approved symbol LUC7L), is widely transcribed and lies in the opposite orientation with respect to the alpha-globin genes. This gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5' splice site selection. To examine the role of the 16pHQG;16 gene in delimiting the extent of the alpha-globin regulatory domain, we mapped its mouse orthologue, which we found to lie on mouse chromosome 17, separated from the mouse alpha-cluster on chromosome 11. Establishing the full extent of the human 16pHQG;16 gene has allowed us to define the centromeric limit of the region of conserved synteny around the human alpha-globin cluster to within an 8-kb segment of chromosome 16.
authors.affiliation: MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, United Kingdom.
authors.forename: C
authors.initials: C
authors.lastname: Tufarelli
authors.forename: A M
authors.initials: AM
authors.lastname: Frischauf
authors.forename: R
authors.initials: R
authors.lastname: Hardison
authors.forename: J
authors.initials: J
authors.lastname: Flint
authors.forename: D R
authors.initials: DR
authors.lastname: Higgs
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D015139:Blotting, Southern; D016466:CHO Cells; D002460:Cell Line; D002503:Centromere / Q000378:metabolism / Q000648:ultrastructure*; D002885:Chromosomes, Human, Pair 16; D002886:Chromosomes, Human, Pair 17; D017124:Conserved Sequence; D006224:Cricetinae; D019143:Evolution, Molecular; D005091:Exons; D005914:Globins / Q000737:chemistry* / Q000235:genetics*; D006801:Humans; D007438:Introns; D051379:Mice; D008957:Models, Genetic; D008969:Molecular Sequence Data; D017434:Protein Structure, Tertiary; D012326:RNA Splicing; D012333:RNA, Messenger / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000737:chemistry* / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017411:Ribonucleoproteins, Small Nuclear / Q000378:metabolism; D017386:Sequence Homology, Amino Acid; D016615:Telomere / Q000378:metabolism; D014018:Tissue Distribution; D014158:Transcription, Genetic
chemical_list: C426524:LUC7L protein, human; D012333:RNA, Messenger; D016601:RNA-Binding Proteins; D017411:Ribonucleoproteins, Small Nuclear; D005914:Globins