title: Organization and expression of human telomere repeat binding factor genes.
abstract: The ends of mammalian chromosomes terminate in structures called telomeres. Recently a human telomere repeat binding factor (TRF1) that binds the vertebrate TTAGGG telomeric repeat in situ was isolated by Chong et al. (1). TRF1 regulates telomere length (2), which is often altered in cancer cells. To understand their genetic organization, TRF1 genes were localized to human chromosomes 13cen, 21cen, and Xq13 by analysis of human monochromosomal hybrids, and by fluorescent in situ hybridization. We also confirmed the recent localization of a human TRF1 gene to chromosome 8, and provide evidence that this locus is alternatively spliced. In contrast to the TRF1 genes on chromosomes 8 and X, the chromosomes 13 and 21 TRF1 genes contained a 60 bp deletion in the coding region. The results suggest that two distinct forms of TRF1 are expressed and that the TRF1 gene family includes at least three pseudogenes whose dispersal in the human genome may have occurred via cDNA intermediates.
authors.affiliation: Department of Cellular and Structural Biology, University of Texas Health Science Center, San Antonio 78284, USA.
authors.forename: A C
authors.initials: AC
authors.lastname: Young
authors.forename: M
authors.initials: M
authors.lastname: Chavez
authors.forename: T A
authors.initials: TA
authors.lastname: Giambernardi
authors.forename: V
authors.initials: V
authors.lastname: Mattern
authors.forename: J R
authors.initials: JR
authors.lastname: McGill
authors.forename: J M
authors.initials: JM
authors.lastname: Harris
authors.forename: M F
authors.initials: MF
authors.lastname: Sarosdy
authors.forename: P
authors.initials: P
authors.lastname: Patel
authors.forename: A Y
authors.initials: AY
authors.lastname: Sakaguchi
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D002891:Chromosomes, Human, Pair 21; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000096:biosynthesis* / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D016615:Telomere / Q000235:genetics*; D035321:Telomeric Repeat Binding Protein 1; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D035321:Telomeric Repeat Binding Protein 1