ArticleGenomics & informatics2013
Structure and Expression Analyses of SVA Elements in Relation to Functional Genes.
Article in Genomics & informatics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- Article
- Article
- Regulation of expression quantitative trait loci by SVA retrotransposons within the major histocompatibility complex.Experimental biology and medicine (Maywood, N.J.) · 2023Article
- A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2023Article
- Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data.Life (Basel, Switzerland) · 2022Review
- Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain.Nature neuroscience · 2022Article
- A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.Clinical genetics · 2021Article
- Contribution of unfixed transposable element insertions to human regulatory variation.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2020Article
- SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene.PloS one · 2020Article
- The Role of SINE-VNTR-Alu (SVA) Retrotransposons in Shaping the Human Genome.International journal of molecular sciences · 2019Article
- Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells.Disease models & mechanisms · 2016Article
- Identification of polymorphic SVA retrotransposons using a mobile element scanning method for SVA (ME-Scan-SVA).Mobile DNA · 2016Article
- Sanfilippo syndrome: causes, consequences, and treatments.The application of clinical genetics · 2015Review
- Composite non-LTR retrotransposons in hominoid primates.Mobile genetic elementsArticle
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.