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- Title
Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).
- Authors
Ye, Xin; Dai, Jianliang; Fang, Weiqun; Jin, Wei; Guo, Yi; Song, Jiaping; Ji, Chaoneng; Gu, Shaohua; Xie, Yi; Mao, Yumin
- 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.
- Publication
DNA sequence : the journal of DNA sequencing and mapping, 2004, Vol 15, Issue 3, p213
- ISSN
1042-5179
- Publication type
Journal Article
- DOI
10.1080/10425170410001679165