title: Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).
abstract: Bardet-Biedl syndrome (BBS) is a heterogeneous multisystemic disorder characterized primarily by five cardinal features of retinal degeneration, obesity, polydactyly, hypogenitalism and mental retardation. To date, six distinct BBS loci that have been identified on different chromosomes. BBS4 gene is mapped to 15q22.2-23, which when mutated can cause BBS4. Its protein shows strong homology to O-linked N-acetylglucosamine (O-GlcNAc) transferase. Here we report a splice variant of BBS4, which is 2556 bp in length and has an open reading frame coding a predicted 527 amino-acids protein. RT-PCR shows that the cDNA is widely expressed while it has higher expression levels in pancreas, liver and prostate.
authors.affiliation: State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Sciences, Fudan University, Shanghai 200433, People's Republic of China.
authors.forename: Xin
authors.initials: X
authors.lastname: Ye
authors.forename: Jianliang
authors.initials: J
authors.lastname: Dai
authors.forename: Weiqun
authors.initials: W
authors.lastname: Fang
authors.forename: Wei
authors.initials: W
authors.lastname: Jin
authors.forename: Yi
authors.initials: Y
authors.lastname: Guo
authors.forename: Jiaping
authors.initials: J
authors.lastname: Song
authors.forename: Chaoneng
authors.initials: C
authors.lastname: Ji
authors.forename: Shaohua
authors.initials: S
authors.lastname: Gu
authors.forename: Yi
authors.initials: Y
authors.lastname: Xie
authors.forename: Yumin
authors.initials: Y
authors.lastname: Mao
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003001:Cloning, Molecular; D017931:DNA Primers; D040461:Gene Components; D006801:Humans; D008099:Liver / Q000378:metabolism; D008297:Male; D008869:Microtubule-Associated Proteins; D008969:Molecular Sequence Data; D016366:Open Reading Frames / Q000235:genetics; D010179:Pancreas / Q000378:metabolism; D011467:Prostate / Q000378:metabolism; D011506:Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: C429655:BBS4 protein, human; D017931:DNA Primers; D008869:Microtubule-Associated Proteins; D011506:Proteins