Transposable element insertions have strongly affected human evolution

被引:81
作者
Britten, Roy J. [1 ,2 ]
机构
[1] CALTECH, Div Biol, Pasadena, CA 91125 USA
[2] Univ Calif Irvine, Dept Ecol & Evolut, Irvine, CA 92697 USA
关键词
Alu sequences; speed of evolution; last; 3; myr; REPETITIVE ELEMENTS; HUMAN GENOME; GENETIC-VARIATION; MOBILE ELEMENT; ALU; IMPACT; BRAIN; RETROTRANSPOSONS; PRIMATES; SEQUENCE;
D O I
10.1073/pnas.1014330107
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Comparison of a full collection of the transposable element (TE) sequences of vertebrates with genome sequences shows that the human genome makes 655 perfect full-length matches. The cause is that the human genome contains many active TEs that have caused TE inserts in relatively recent times. These TE inserts in the human genome are several types of young Alus (AluYa5, AluYb8, AluYc1, etc.). Work in many laboratories has shown that such inserts have many effects including changes in gene expression, increases in recombination, and unequal crossover. The time of these very effective changes in the human lineage genome extends back about 4 million years according to these data and very likely much earlier. Rapid human lineage-specific evolution, including brain size is known to have also occurred in the last few million years. Alu insertions likely underlie rapid human lineage evolution. They are known to have many effects. Examples are listed in which TE sequences have influenced human-specific genes. The proposed model is that the many TE insertions created many potentially effective changes and those selected were responsible for a part of the striking human lineage evolution. The combination of the results of these events that were selected during human lineage evolution was apparently effective in producing a successful and rapidly evolving species.
引用
收藏
页码:19945 / 19948
页数:4
相关论文
共 30 条
[1]   Active Alu retrotransposons in the human genome [J].
Bennett, E. Andrew ;
Keller, Heiko ;
Mills, Ryan E. ;
Schmidt, Steffen ;
Moran, John V. ;
Weichenrieder, Oliver ;
Devine, Scott E. .
GENOME RESEARCH, 2008, 18 (12) :1875-1883
[2]   Natural genetic variation caused by transposable elements in humans [J].
Bennettt, EA ;
Coleman, LE ;
Tsui, C ;
Pittard, WS ;
Devine, SE .
GENETICS, 2004, 168 (02) :933-951
[3]  
*CHIMP SEQ AN CONS, 2005, NATURE, V0437
[4]   Birth of a chimeric primate gene by capture of the transposase gene from a mobile element [J].
Cordaux, Richard ;
Udit, Swalpa ;
Batzer, Mark A. ;
Feschotte, Cedric .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (21) :8101-8106
[6]   Alu-linked hairpins efficiently mediate RNA interference with less toxicity than do H1-expressed short hairpin RNAs [J].
Gasior, SL ;
Palmisano, M ;
Deininger, PL .
ANALYTICAL BIOCHEMISTRY, 2006, 349 (01) :41-48
[7]   Alu-mediated inactivation of the human CMP-N-acetylneuraminic acid hydroxylase gene [J].
Hayakawa, T ;
Satta, Y ;
Gagneux, P ;
Varki, A ;
Takahata, N .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (20) :11399-11404
[8]   Contrasts between adaptive coding and noncoding changes during human evolution [J].
Haygood, Ralph ;
Babbitt, Courtney C. ;
Fedrigo, Olivier ;
Wray, Gregory A. .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (17) :7853-7857
[9]   Evolutionary impact of human Alu repetitive elements [J].
Jurka, J .
CURRENT OPINION IN GENETICS & DEVELOPMENT, 2004, 14 (06) :603-608
[10]   Sequence patterns indicate an enzymatic involvement in integration of mammalian retroposons [J].
Jurka, J .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (05) :1872-1877