Structure and Expression Analyses of SVA Elements in Relation to Functional Genes.
- Author:
Yun Jeong KWON
1
;
Yuri CHOI
;
Jungwoo EO
;
Yu Na NOH
;
Jeong An GIM
;
Yi Deun JUNG
;
Ja Rang LEE
;
Heui Soo KIM
Author Information
- Publication Type:Original Article
- Keywords: gene expression profiling; genomics; messenger RNA isoform; SVA; tissue specificity
- MeSH: 3' Untranslated Regions; 5' Untranslated Regions; Exons; Gene Expression Profiling; Genome, Human; Genomics; Humans; Lung; Organ Specificity; Poly A; Primates; Protein Isoforms
- From:Genomics & Informatics 2013;11(3):142-148
- CountryRepublic of Korea
- Language:English
- 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.
