title: Structure and Expression Analyses of SVA Elements in Relation to Functional Genes.
abstract: SINE-VNTR-Alu (SVA) elements are present in hominoid primates and are divided into 6 subfamilies (SVA-A to SVA-F) and active in the human population. Using a bioinformatic tool, 22 SVA element-associated genes are identified in the human genome. In an analysis of genomic structure, SVA elements are detected in the 5' untranslated region (UTR) of HGSNAT (SVA-B), MRGPRX3 (SVA-D), HYAL1 (SVA-F), TCHH (SVA-F), and ATXN2L (SVA-F) genes, while some elements are observed in the 3'UTR of SPICE1 (SVA-B), TDRKH (SVA-C), GOSR1 (SVA-D), BBS5 (SVA-D), NEK5 (SVA-D), ABHD2 (SVA-F), C1QTNF7 (SVA-F), ORC6L (SVA-F), TMEM69 (SVA-F), and CCDC137 (SVA-F) genes. They could contribute to exon extension or supplying poly A signals. LEPR (SVA-C), ALOX5 (SVA-D), PDS5B (SVA-D), and ABCA10 (SVA-F) genes also showed alternative transcripts by SVA exonization events. Dominant expression of HYAL1_SVA appeared in lung tissues, while HYAL1_noSVA showed ubiquitous expression in various human tissues. Expression of both transcripts (TDRKH_SVA and TDRKH_noSVA) of the TDRKH gene appeared to be ubiquitous. Taken together, these data suggest that SVA elements cause transcript isoforms that contribute to modulation of gene regulation in various human tissues.
authors.affiliation: Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 609-735, Korea.
authors.forename: Yun-Jeong
authors.initials: YJ
authors.lastname: Kwon
authors.forename: Yuri
authors.initials: Y
authors.lastname: Choi
authors.forename: Jungwoo
authors.initials: J
authors.lastname: Eo
authors.forename: Yu-Na
authors.initials: YN
authors.lastname: Noh
authors.forename: Jeong-An
authors.initials: JA
authors.lastname: Gim
authors.forename: Yi-Deun
authors.initials: YD
authors.lastname: Jung
authors.forename: Ja-Rang
authors.initials: JR
authors.lastname: Lee
authors.forename: Heui-Soo
authors.initials: HS
authors.lastname: Kim
keywords: SVA; gene expression profiling; genomics; messenger RNA isoform; tissue specificity