NDLI: Somatic retrotransposition alters the genetic landscape of the human brain

Content Provider	PubMed Central
Author	Baillie, J. Kenneth Barnett, Mark W. Upton, Kyle R. Gerhardt, Daniel J. Richmond, Todd A. Sapio, Fioravante De Brennan, Paul Patrizia, Rizzu Smith, Sarah Fell, Mark Talbot, Richard T. Stefano, Gustincich Freeman, Thomas C. Mattick, John S. Hume, David A. Peter, Heutink Carninci, Piero Jeddeloh, Jeffrey A. Faulkner, Geoffrey J.
Abstract	Retrotransposons are mobile genetic elements that employ a germ line “copy-and-paste” mechanism to spread throughout metazoan genomes 1 . At least 50% of the human genome is derived from retrotransposons, with three active families (L1, Alu and SVA) associated with insertional mutagenesis and disease 2-3 . Epigenetic and post-transcriptional suppression block retrotransposition in somatic cells 4-5 , excluding early embryo development and some malignancies 6-7 . Recent reports of L1 expression 8-9 and copy number variation 10-11 (CNV) in the human brain suggest L1 mobilization may also occur during later development. However, the corresponding integration sites have not been mapped. Here we apply a high-throughput method to identify numerous L1, Alu and SVA germ line mutations, as well as 7,743 putative somatic L1 insertions in the hippocampus and caudate nucleus of three individuals. Surprisingly, we also found 13,692 and 1,350 somatic Alu and SVA insertions, respectively. Our results demonstrate that retrotransposons mobilize to protein-coding genes differentially expressed and active in the brain. Thus, somatic genome mosaicism driven by retrotransposition may reshape the genetic circuitry that underpins normal and abnormal neurobiological processes.
Related Links	http://dx.doi.org/10.1038/nature10531
Ending Page	537
Page Count	4
Starting Page	534
File Format	PDF
ISSN	00280836
e-ISSN	14764687
Journal	Nature
Issue Number	7374
Volume Number	479
Language	English
Publisher Date	2011-10-01
Access Restriction	Open
Subject Keyword	General Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

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