title: Human genes encoding U3 snRNA associate with coiled bodies in interphase cells and are clustered on chromosome 17p11.2 in a complex inverted repeat structure.
abstract: Coiled bodies (CBs) are nuclear organelles whose morphological structure and molecular composition have been conserved from plants to animals. Furthermore, CBs are often found to co-localize with specific DNA loci in both mammalian somatic nuclei and amphibian oocytes. Much as rDNA sequences are called nucleolus organizers, we term these coiled body-associated sequences 'coiled body organizers' (CBORs). The only sequences that have been shown to be CBORs in human cells are the U1, U2 and histone gene loci. We wanted to determine whether other snRNA genes might also act as CBORs. In this paper we show that human U3 genes (the RNU3 locus) preferentially associate with CBs in interphase cells. In addition, we have analyzed the genomic organization of the RNU3 locus by constructing a BAC and P1 clone contig. We found that, unlike the RNU1 and RNU2 loci, U3 genes are not tandemly repeated. Rather, U3 genes are clustered on human chromosome 17p11.2, with evidence for large inverted duplications within the cluster. Thus all of the CBORs identified to date are composed of either tandemly repeated or tightly clustered genes. The evolutionary and cell biological consequences of this type of organization are discussed.
authors.affiliation: Department of Genetics, Center for Human Genetics, Center for RNA Molecular Biology and Program in Cell Biology, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH 44106-4955, USA.
authors.forename: L
authors.initials: L
authors.lastname: Gao
authors.forename: M R
authors.initials: MR
authors.lastname: Frey
authors.forename: A G
authors.initials: AG
authors.lastname: Matera
mesh_terms: D001483:Base Sequence; D002886:Chromosomes, Human, Pair 17; D003001:Cloning, Molecular; D004275:DNA, Ribosomal / Q000737:chemistry; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D012342:RNA, Small Nuclear / Q000737:chemistry / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping; D016415:Sequence Alignment; D017381:Spliceosomes / Q000737:chemistry
chemical_list: D004275:DNA, Ribosomal; D012342:RNA, Small Nuclear