title: Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA.
abstract: Nucleoporins are the main components of nuclear pore complexes (NPCs) involved in nucleo-cytoplasmic transport. Starting with an expressed DNA fragment retrieved by exon trapping from pooled human BAC clones mapped to the short arm of chromosome 5, we identified a human nucleoporin cDNA sequence by PCR from a human testis cDNA library. The coding sequence showed high homology to that of the rat nucleoporin 155 (Nup155) cDNA. FISH analysis with the human BAC clone as probe localized the human NUP155 gene to chromosome band 5p13. Northern analysis showed that the human NUP155 gene was expressed at different levels in all tissues tested. Two species of transcripts were observed with estimated lengths of 5.4 and 4.7 kb, respectively, in concordance with the finding of two alternative polyadenylation sites in the cDNA. The genomic location of the human NUP155 gene suggests a possible role in the mental and developmental retardation associated with hemizygous deletions of the 5p13 region.
authors: Human Genome Center, Institute of Genetics, Beijing, China.
authors: X
authors: X
authors: Zhang
authors: H
authors: H
authors: Yang
authors: M J
authors: MJ
authors: Corydon
authors: X
authors: X
authors: Zhang
authors: S
authors: S
authors: Pedersen
authors: J R
authors: JR
authors: Korenberg
authors: X N
authors: XN
authors: Chen
authors: J
authors: J
authors: Laporte
authors: N
authors: N
authors: Gregersen
authors: E
authors: E
authors: Niebuhr
authors: G
authors: G
authors: Liu
authors: L
authors: L
authors: Bolund
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015139:Blotting, Southern; D014128:Chromomycin A3 / Q000378:metabolism; D002895:Chromosomes, Human, Pair 5; D004214:Distamycins / Q000378:metabolism; D005091:Exons; D020224:Expressed Sequence Tags; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008565:Membrane Proteins / Q000235:genetics*; D008957:Models, Genetic; D008969:Molecular Sequence Data; D028861:Nuclear Pore Complex Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D051381:Rats; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid; D014018:Tissue Distribution
chemical_list: D004214:Distamycins; D008565:Membrane Proteins; C080427:NUP155 protein, human; D028861:Nuclear Pore Complex Proteins; D009687:Nuclear Proteins; C486200:Nup155 protein, rat; C030000:stallimycin; D014128:Chromomycin A3