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PMID: 14628287 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

SVA elements are nonautonomous retrotransposons that cause disease in humans.

American journal of human genetics ·Vol. 73 ·No. 6 ·2003-12-00 ·Pages 1444-51

Ostertag EM, Goodier JL, Zhang Y, Kazazian HH

Abstract

L1 elements are the only active autonomous retrotransposons in the human genome. The nonautonomous Alu elements, as well as processed pseudogenes, are retrotransposed by the L1 retrotransposition proteins working in trans. Here, we describe another repetitive sequence in the human genome, the SVA element. Our analysis reveals that SVA elements are currently active in the human genome. SVA elements, like Alus and L1s, occasionally insert into genes and cause disease. Furthermore, SVA elements are probably mobilized in trans by active L1 elements.

MeSH Terms
Base Sequence Chromosome Mapping Cluster Analysis DNA Primers Genetic Diseases, Inborn Humans Molecular Sequence Data Retroelements/genetics Sequence Alignment Sequence Analysis, DNA
Chemicals
DNA Primers Retroelements
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Ostertag Eric M
Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-6145, USA.
Goodier John L
Zhang Yue
Kazazian Haig H
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/380207
Published
2003-12-00
Epub
2003-00-19
Pages
1444-51
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1180407
Subset
IM
Databases
GENBANK
AC016142, AC037439, AC068352
External Links
PubMed source DOI: 10.1086/380207 PMC Full Text View journal details
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