LINE-1 retrotransposons in healthy and diseased human brain

被引:55
作者
Suarez, Nicole A. [1 ]
Macia, Angela [1 ]
Muotri, Alysson R. [1 ]
机构
[1] Univ Calif San Diego, Dept Pediat, Rady Childrens Hosp San Diego, La Jolla, CA 92093 USA
基金
美国国家卫生研究院;
关键词
LINE-1; retrotransposition; brain; neurological disorders; autism; AICARDI-GOUTIERES-SYNDROME; MAJOR DEPRESSIVE DISORDER; COPY-NUMBER VARIATION; EMBRYONIC STEM-CELLS; 22Q11.2 DELETION SYNDROME; AUTISM SPECTRUM DISORDER; CARDIO-FACIAL SYNDROME; POSTTRAUMATIC-STRESS-DISORDER; HUMAN L1 RETROTRANSPOSITION; HUMAN TRANSPOSABLE ELEMENT;
D O I
10.1002/dneu.22567
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
Long interspersed element-1 (LINE-1 or L1) is a transposable element with the ability to self-mobilize throughout the human genome. The L1 elements found in the human brain is hypothesized to date back 56 million years ago and has survived evolution, currently accounting for 17% of the human genome. L1 retrotransposition has been theorized to contribute to somatic mosaicism. This review focuses on the presence of L1 in the healthy and diseased human brain, such as in autism spectrum disorders. Throughout this exploration, we will discuss the impact L1 has on neurological disorders that can occur throughout the human lifetime. With this, we hope to better understand the complex role of L1 in the human brain development and its implications to human cognition. (c) 2017 Wiley Periodicals, Inc. Develop Neurobiol 78: 434-455, 2018
引用
收藏
页码:434 / 455
页数:22
相关论文
共 251 条
[1]   Unconventional translation of mammalian LINE-1 retrotransposons [J].
Alisch, RS ;
Garcia-Perez, JL ;
Muotri, AR ;
Gage, FH ;
Moran, JV .
GENES & DEVELOPMENT, 2006, 20 (02) :210-224
[2]  
American Psychological Association, 2017, AUTISM
[3]   Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 [J].
Amir, RE ;
Van den Veyver, IB ;
Wan, M ;
Tran, CQ ;
Francke, U ;
Zoghbi, HY .
NATURE GENETICS, 1999, 23 (02) :185-188
[4]  
[Anonymous], AUT SPECTR DIS ASD
[5]   Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion) [J].
Antshel, Kevin M. ;
Aneja, Alka ;
Strunge, Leslie ;
Peebles, Jena ;
Fremont, Wanda P. ;
Stallone, Kimberly ;
AbdulSabur, Nuria ;
Higgins, Anne Marie ;
Shprintzen, Robert J. ;
Kates, Wendy R. .
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2007, 37 (09) :1776-1786
[6]   ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome [J].
Antshel, KM ;
Fremont, W ;
Roizen, NJ ;
Shprintzen, R ;
Higgins, AM ;
Dhamoon, A ;
Kates, WR .
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 2006, 45 (05) :596-603
[7]   A piRNA pathway primed by individual transposons is linked to de novo DNA methylation in mice [J].
Aravin, Alexei A. ;
Sachidanandam, Ravi ;
Bourc'his, Deborah ;
Schaefer, Christopher ;
Pezic, Dubravka ;
Toth, Katalin Fejes ;
Bestor, Timothy ;
Hannon, Gregory J. .
MOLECULAR CELL, 2008, 31 (06) :785-799
[8]   The Piwi-piRNA pathway provides an adaptive defense in the transposon arms race [J].
Aravin, Alexei A. ;
Hannon, Gregory J. ;
Brennecke, Julius .
SCIENCE, 2007, 318 (5851) :761-764
[9]   Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders [J].
Arnold, PD ;
Siegel-Bartelt, J ;
Cytrynbaum, C ;
Teshima, I ;
Schachar, R .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 105 (04) :354-362
[10]   Equal Numbers of Neuronal and Nonneuronal Cells Make the Human Brain an Isometrically Scaled-Up Primate Brain [J].
Azevedo, Frederico A. C. ;
Carvalho, Ludmila R. B. ;
Grinberg, Lea T. ;
Farfel, Jose Marcelo ;
Ferretti, Renata E. L. ;
Leite, Renata E. P. ;
Jacob Filho, Wilson ;
Lent, Roberto ;
Herculano-Houzel, Suzana .
JOURNAL OF COMPARATIVE NEUROLOGY, 2009, 513 (05) :532-541