Retroviral promoters in the human genome

被引:95
作者
Conley, Andrew B. [1 ]
Piriyapongsa, Jittima [1 ]
Jordan, I. King [1 ]
机构
[1] Georgia Inst Technol, Sch Biol, Atlanta, GA 30306 USA
关键词
D O I
10.1093/bioinformatics/btn243
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
Motivation: Endogenous retrovirus (ERV) elements have been shown to contribute promoter sequences that can initiate transcription of adjacent human genes. However, the extent to which retroviral sequences initiate transcription within the human genome is currently unknown. We analyzed genome sequence and high-throughput expression data to systematically evaluate the presence of retroviral promoters in the human genome. Results: We report the existence of 51 197 ERV-derived promoter sequences that initiate transcription within the human genome, including 1743 cases where transcription is initiated from ERV sequences that are located in gene proximal promoter or 5 untranslated regions (UTRs). A total of 114 of the ERV-derived transcription start sites can be demonstrated to drive transcription of 97 human genes, producing chimeric transcripts that are initiated within ERV long terminal repeat (LTR) sequences and read-through into known gene sequences. ERV promoters drive tissue-specific and lineage-specific patterns of gene expression and contribute to expression divergence between paralogs. These data illustrate the potential of retroviral sequences to regulate human transcription on a large scale consistent with a substantial effect of ERVs on the function and evolution of the human genome.
引用
收藏
页码:1563 / 1567
页数:5
相关论文
共 30 条
[1]  
ALTSCHUL SF, 1997, NUCLEIC ACIDS RES, V25, P3402
[2]   Retroelements and the human genome: New perspectives on an old relation [J].
Bannert, N ;
Kurth, R .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 :14572-14579
[3]   Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project [J].
Birney, Ewan ;
Stamatoyannopoulos, John A. ;
Dutta, Anindya ;
Guigo, Roderic ;
Gingeras, Thomas R. ;
Margulies, Elliott H. ;
Weng, Zhiping ;
Snyder, Michael ;
Dermitzakis, Emmanouil T. ;
Stamatoyannopoulos, John A. ;
Thurman, Robert E. ;
Kuehn, Michael S. ;
Taylor, Christopher M. ;
Neph, Shane ;
Koch, Christoph M. ;
Asthana, Saurabh ;
Malhotra, Ankit ;
Adzhubei, Ivan ;
Greenbaum, Jason A. ;
Andrews, Robert M. ;
Flicek, Paul ;
Boyle, Patrick J. ;
Cao, Hua ;
Carter, Nigel P. ;
Clelland, Gayle K. ;
Davis, Sean ;
Day, Nathan ;
Dhami, Pawandeep ;
Dillon, Shane C. ;
Dorschner, Michael O. ;
Fiegler, Heike ;
Giresi, Paul G. ;
Goldy, Jeff ;
Hawrylycz, Michael ;
Haydock, Andrew ;
Humbert, Richard ;
James, Keith D. ;
Johnson, Brett E. ;
Johnson, Ericka M. ;
Frum, Tristan T. ;
Rosenzweig, Elizabeth R. ;
Karnani, Neerja ;
Lee, Kirsten ;
Lefebvre, Gregory C. ;
Navas, Patrick A. ;
Neri, Fidencio ;
Parker, Stephen C. J. ;
Sabo, Peter J. ;
Sandstrom, Richard ;
Shafer, Anthony .
NATURE, 2007, 447 (7146) :799-816
[4]   Aligning multiple genomic sequences with the threaded blockset aligner [J].
Blanchette, M ;
Kent, WJ ;
Riemer, C ;
Elnitski, L ;
Smit, AFA ;
Roskin, KM ;
Baertsch, R ;
Rosenbloom, K ;
Clawson, H ;
Green, ED ;
Haussler, D ;
Miller, W .
GENOME RESEARCH, 2004, 14 (04) :708-715
[5]   Endogenous retroviruses and the human germline [J].
Bock, M ;
Stoye, JP .
CURRENT OPINION IN GENETICS & DEVELOPMENT, 2000, 10 (06) :651-655
[6]   The human zoo: endogenous retroviruses in the human genome [J].
Bromham, L .
TRENDS IN ECOLOGY & EVOLUTION, 2002, 17 (02) :91-97
[7]   Transcription of two human genes from a bidirectional endogenous retrovirus promoter [J].
Dunn, CA ;
Romanish, MT ;
Gutierrez, LE ;
van de Lagemaat, LN ;
Mager, DL .
GENE, 2006, 366 (02) :335-342
[8]   An endogenous retroviral long terminal repeat is the dominant promoter for human β1,3-galactosyltransferase 5 in the colon [J].
Dunn, CA ;
Medstrand, P ;
Mager, DL .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (22) :12841-12846
[9]   Galaxy: A platform for interactive large-scale genome analysis [J].
Giardine, B ;
Riemer, C ;
Hardison, RC ;
Burhans, R ;
Elnitski, L ;
Shah, P ;
Zhang, Y ;
Blankenberg, D ;
Albert, I ;
Taylor, J ;
Miller, W ;
Kent, WJ ;
Nekrutenko, A .
GENOME RESEARCH, 2005, 15 (10) :1451-1455
[10]   Origin of a substantial fraction of human regulatory sequences from transposable elements [J].
Jordan, IK ;
Rogozin, IB ;
Glazko, GV ;
Koonin, EV .
TRENDS IN GENETICS, 2003, 19 (02) :68-72