Structure and Expression Analyses of SVA Elements in Relation to Functional Genes

Kwon, Yun-Jeong; Choi, Yuri; Eo, Jungwoo; Noh, Yu-Na; Gim, Jeong-An; Jung, Yi-Deun; Lee, Ja-Rang; Kim, Heui-Soo

추천

검색

자료유형: 학술저널

저자정보: Kwon, Yun-Jeong (Department of Biological Sciences, College of Natural Sciences, Pusan National University) Choi, Yuri (Department of Biological Sciences, College of Natural Sciences, Pusan National University) Eo, Jungwoo (Department of Biological Sciences, College of Natural Sciences, Pusan National University) Noh, Yu-Na (Department of Biological Sciences, College of Natural Sciences, Pusan National University) Gim, Jeong-An (Department of Biological Sciences, College of Natural Sciences, Pusan National University) Jung, Yi-Deun (Department of Biological Sciences, College of Natural Sciences, Pusan National University) Lee, Ja-Rang (Department of Biological Sciences, College of Natural Sciences, Pusan National University) Kim, Heui-Soo (Department of Biological Sciences, College of Natural Sciences, Pusan National University)

저널정보: 한국유전체학회 Genomics & informatics Genomics & informatics 제11권 제3호

발행연도: 2013.1

수록면: 142 - 148 (7page)

이용수

📌

연구주제

📖

연구배경

🔬

연구방법

🏆

연구결과

초록· 키워드

오류제보하기

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.

#gene expression profiling #genomics #messenger RNA isoform #SVA #tissue specificity

참고문헌 (33)

참고문헌 신청

Lander ES / 2001 / Initial sequencing and analysis of the human genome / Nature 409:860~921

Cordaux R / 2009 / The impact of retrotransposons on human genome evolution / Nat Rev Genet 10:691~703

Ostertag EM / 2003 / SVA elements are nonautonomous retrotransposons that cause disease in humans / Am J Hum Genet 73:1444~1451

Beck CR / 2010 / LINE-1 retrotransposition activity in human genomes / Cell 141:1159~1170

Raiz J / 2012 / The non-autonomous retrotransposon SVA is trans-mobilized by the human LINE-1 protein machinery / Nucleic Acids Res 40:1666~1683