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Literature DB >> 20416380

SVA retrotransposons: Evolution and genetic instability.

Abstract

SINE-VNTR-Alus (SVA) are non-autonomous hominid specific retrotransposons that are associated with disease in humans. SVAs are evolutionarily young and presumably mobilized by the LINE-1 reverse transcriptase in trans. SVAs are currently active and may impact the host through a variety of mechanisms including insertional mutagenesis, exon shuffling, alternative splicing, and the generation of differentially methylated regions (DMR). Here we review SVA biology, including SVA insertions associated with known diseases. Further, we discuss a model describing the initial formation of SVA and the mechanisms by which SVA may impact the host.

Entities: CellLine Chemical Disease Gene Mutation Species

Mesh：

Year: 2010 PMID： 20416380 PMCID： PMC2945828 DOI： 10.1016/j.semcancer.2010.04.001

Source DB: PubMed Journal: Semin Cancer Biol ISSN： 1044-579X Impact factor: 15.707

112 in total

1. The age and evolution of non-LTR retrotransposable elements.

Authors: H S Malik; W D Burke; T H Eickbush
Journal: Mol Biol Evol Date: 1999-06 Impact factor: 16.240

2. Exon shuffling by L1 retrotransposition.

Authors: J V Moran; R J DeBerardinis; H H Kazazian
Journal: Science Date: 1999-03-05 Impact factor: 47.728

3. Two independent retrotransposon insertions at the same site within the coding region of BTK.

Authors: Mary Ellen Conley; Julie D Partain; Shannon M Norland; Sheila A Shurtleff; Haig H Kazazian
Journal: Hum Mutat Date: 2005-03 Impact factor: 4.878

4. Role of poly(A) tail length in Alu retrotransposition.

Authors: Marie Dewannieux; Thierry Heidmann
Journal: Genomics Date: 2005-09 Impact factor: 5.736

5. Intragenic tandem repeats generate functional variability.

Authors: Kevin J Verstrepen; An Jansen; Fran Lewitter; Gerald R Fink
Journal: Nat Genet Date: 2005-08-07 Impact factor: 38.330

Review 6. Repbase Update, a database of eukaryotic repetitive elements.

Authors: J Jurka; V V Kapitonov; A Pavlicek; P Klonowski; O Kohany; J Walichiewicz
Journal: Cytogenet Genome Res Date: 2005 Impact factor: 1.636

7. The RTE class of non-LTR retrotransposons is widely distributed in animals and is the origin of many SINEs.

Authors: H S Malik; T H Eickbush
Journal: Mol Biol Evol Date: 1998-09 Impact factor: 16.240

8. Unusual mutations in Btk: an insertion, a duplication, an inversion, and four large deletions.

Authors: J Rohrer; Y Minegishi; D Richter; J Eguiguren; M E Conley
Journal: Clin Immunol Date: 1999-01 Impact factor: 3.969

9. Intergenic splicing between a HERV-H endogenous retrovirus and two adjacent human genes.

Authors: P E Kowalski; J D Freeman; D L Mager
Journal: Genomics Date: 1999-05-01 Impact factor: 5.736

10. The human L1 promoter: variable transcription initiation sites and a major impact of upstream flanking sequence on promoter activity.

Authors: Laurence Lavie; Esther Maldener; Brook Brouha; Eckart U Meese; Jens Mayer
Journal: Genome Res Date: 2004-11 Impact factor: 9.043

79 in total

SVA retrotransposons: Evolution and genetic instability.

1. The age and evolution of non-LTR retrotransposable elements.

2. Exon shuffling by L1 retrotransposition.

3. Two independent retrotransposon insertions at the same site within the coding region of BTK.

4. Role of poly(A) tail length in Alu retrotransposition.

5. Intragenic tandem repeats generate functional variability.

Review 6. Repbase Update, a database of eukaryotic repetitive elements.

7. The RTE class of non-LTR retrotransposons is widely distributed in animals and is the origin of many SINEs.

8. Unusual mutations in Btk: an insertion, a duplication, an inversion, and four large deletions.

9. Intergenic splicing between a HERV-H endogenous retrovirus and two adjacent human genes.

10. The human L1 promoter: variable transcription initiation sites and a major impact of upstream flanking sequence on promoter activity.

1. Retrotransposition of marked SVA elements by human L1s in cultured cells.

Review 2. Active human retrotransposons: variation and disease.

3. Similarities between long interspersed element-1 (LINE-1) reverse transcriptase and telomerase.

4. Enrichment of processed pseudogene transcripts in L1-ribonucleoprotein particles.

5. SQuIRE reveals locus-specific regulation of interspersed repeat expression.

6. Reading TE leaves: new approaches to the identification of transposable element insertions.

Review 7. Immune responses to endogenous retroelements: taking the bad with the good.

8. Composite non-LTR retrotransposons in hominoid primates.

Review 9. Host Noncoding Retrotransposons Induced by DNA Viruses: a SINE of Infection?

Review 10. Functional impact of the human mobilome.