title: Alternative splicing of human height-related zinc finger and BTB domain-containing 38 gene through Alu exonization.
abstract: Recently, genome-wide association studies have identified a strong association between the ZBTB38 locus and human height. In a functional study, we detected two RT-PCR products of ZBTB38, amplified with primers in exons 7 and 8 from a chondrocyte cell line, C-28/I2. Sequencing revealed that the longer product contained an Alu segment in intron 7 of ZBTB38, which contained a potential splicing acceptor site that likely was used to generate the alternative transcript. Insertion of the Alu segment changed the consensus Kozak sequence of the ZBTB38 transcript, potentially altering translational efficiency. We performed RT-PCR using 16 tissue samples from humans and 8 tissue samples from primates to determine any tissue specificity or evolutionary conservation of the alternative splicing. Although we failed to identify any difference among the tissues, all primate samples expressed only the shorter Alu segment (lacking the transcript), suggesting that the alternative splicing event is hominid primate-specific.
authors.affiliation: Department of Biomedical Engineering, School of Medicine, Kyung Hee University, Dongdaemun-gu, Seoul, Korea.
authors.forename: Kyung-Won
authors.initials: KW
authors.lastname: Hong
authors.forename: Young-Bin
authors.initials: YB
authors.lastname: Shin
authors.forename: Hyun-Seok
authors.initials: HS
authors.lastname: Jin
authors.forename: Ji-Eun
authors.initials: JE
authors.lastname: Lim
authors.forename: Je-Yong
authors.initials: JY
authors.lastname: Choi
authors.forename: Kyu-Tae
authors.initials: KT
authors.lastname: Chang
authors.forename: Heui-Soo
authors.initials: HS
authors.lastname: Kim
authors.forename: Bermseok
authors.initials: B
authors.lastname: Oh
mesh_terms: D017398:Alternative Splicing; D020087:Alu Elements; D000818:Animals; D001483:Base Sequence; D002144:Callithrix / Q000235:genetics; D002460:Cell Line; D005091:Exons; D020224:Expressed Sequence Tags; D006801:Humans; D008253:Macaca mulatta / Q000235:genetics; D008969:Molecular Sequence Data; D009928:Organ Specificity; D012097:Repressor Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid
chemical_list: D012097:Repressor Proteins; C508975:ZBTB38 protein, human