Retrotransposable elements and human disease

Genome Dynamics
Pauline A Callinan, Mark A Batzer

Abstract

Nearly 50% of the human genome is composed of fossils from the remains of past transposable element duplication. Mobilization continues in the genomes of extant humans but is now restricted to retrotransposons, a class of mobile elements that move via a copy and paste mechanism. Currently active retrotransposable elements include Long INterspersed Elements (LINEs), Short INterspersed Elements (SINEs) and SVA (SINE/VNTR/Alu) elements. Retrotransposons are responsible for creating genetic variation and on occasion, disease-causing mutations, within the human genome. Approximately 0.27% of all human disease mutations are attributable to retrotransposable elements. Different mechanisms of genome alteration created by retrotransposable elements include insertional mutagenesis, recombination, retrotransposition-mediated and gene conversion-mediated deletion, and 3' transduction. Although researchers in the field of human genetics have discovered many mutational mechanisms for retrotransposable elements, their contribution to genetic variation within humans is still being resolved.

Citations

Aug 31, 2011·Human Genetics·Mustafa TaşkesenJürgen K Naggert
Sep 19, 2009·Nature Reviews. Genetics·Richard Cordaux, Mark A Batzer
Jun 12, 2012·Molecular Biology and Evolution·Thomas J MeyerMark A Batzer
May 24, 2013·Journal of Virology·Firoz AnwarDiako Ebrahimi
Oct 8, 2013·Respiratory Research·Muralidharan Sargurupremraj, Matthias Wjst
Oct 12, 2011·BMC Genomics·Svitlana TyekuchevaSarven Sabunciyan
Dec 22, 2011·BMC Genomics·Alexandre de AndradeMarcelo B Soares
Mar 19, 2011·Biology Direct·Aurélie Hua-VanPierre Capy
Nov 29, 2012·PLoS Biology·Erin S KelleherDaniel A Barbash
Nov 30, 2011·PLoS Genetics·Katharina WimmerLudwine Messiaen
Feb 6, 2014·PLoS Genetics·Vladimir V CavrakOrtrun Mittelsten Scheid
May 30, 2013·PeerJ·Elizabeth Hb Hellen, John Fy Brookfield
Jul 5, 2011·Annual Review of Genomics and Human Genetics·Chris P PontingStephen Meader
Nov 14, 2012·Annual Review of Genetics·Cheng Ran Lisa HuangJef D Boeke
Aug 26, 2015·Journal of Biomolecular Structure & Dynamics·Edward N Trifonov, Eduard Kejnovsky
Oct 28, 2015·Nucleic Acids Research·Julia H WildschutteJeffrey M Kidd
Jul 30, 2015·DNA and Cell Biology·Laleh HabibiKhadijeh Bonyadi
Oct 7, 2015·Mobile Genetic Elements·Harun MustafaMichael Brudno
Aug 22, 2012·Annual Review of Genetics·Rita RebolloDixie L Mager
Oct 23, 2012·Mobile Genetic Elements·Peter Kuehnen, Heiko Krude
Jun 15, 2016·Proceedings of the National Academy of Sciences of the United States of America·Neil H KimThomas E Kuhlman
Jul 12, 2017·Nature Communications·Shinta SaitoNoritaka Adachi
Jan 1, 2012·Genes·Oliver Piskurek, Daniel J Jackson
May 12, 2015·Current Environmental Health Reports·Nadia VilahurKarin Broberg
Oct 4, 2014·Genes, Chromosomes & Cancer·Casina W S KanDeborah J Marsh
May 23, 2014·Microbiology and Molecular Biology Reviews : MMBR·Eugene V Koonin, Valerian V Dolja
Feb 3, 2018·BMC Genomics·Erika M KvikstadGerton Lunter
Oct 14, 2009·Human Genetics·Igor Vorechovsky
Sep 10, 2010·Journal of Human Genetics·Hiroyuki AwanoMasafumi Matsuo
Jul 28, 2018·DNA Research : an International Journal for Rapid Publication of Reports on Genes and Genomes·Wanxiangfu TangPing Liang
Oct 26, 2012·The Behavioral and Brain Sciences·Evan Charney
Mar 1, 2016·Nature Reviews. Genetics·Claudia M B Carvalho, James R Lupski
Jun 25, 2016·Human Genome Variation·Ina E AmarilloTing Wang
Apr 9, 2014·Bioorganicheskaia khimiia·A A KurnosovIu B Lebedev
Aug 19, 2011·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Mateusz JanickiGuojun Yang

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