Structure and function of the human genome

被引:28
作者
Little, PFR [1 ]
机构
[1] Univ New S Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW 2074, Australia
关键词
D O I
10.1101/gr.4560905
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The human genome project has had an impact on both biological research and its political organization; this review focuses primarily on the scientific novelty that has emerged from the project but also touches on its political dimensions. The project has generated both anticipated and novel information; in the later category are the description of the unusual distribution of genes, the prevalence of non-protein-coding genes, and the extraordinary evolutionary conservation of some regions of the genome. The applications of the sequence data are just starting to be felt in basic, rather than therapeutic, biomedical research and in the vibrant human origins and variation debates. The political impact of the project is in the unprecedented extent to which directed funding programs have emerged as drivers of basic research and the organization of the multidisciplinary groups that are needed to utilize the human DNA sequence.
引用
收藏
页码:1759 / 1766
页数:8
相关论文
共 54 条
[1]   Gene Ontology: tool for the unification of biology [J].
Ashburner, M ;
Ball, CA ;
Blake, JA ;
Botstein, D ;
Butler, H ;
Cherry, JM ;
Davis, AP ;
Dolinski, K ;
Dwight, SS ;
Eppig, JT ;
Harris, MA ;
Hill, DP ;
Issel-Tarver, L ;
Kasarskis, A ;
Lewis, S ;
Matese, JC ;
Richardson, JE ;
Ringwald, M ;
Rubin, GM ;
Sherlock, G .
NATURE GENETICS, 2000, 25 (01) :25-29
[2]   Ultraconserved elements in the human genome [J].
Bejerano, G ;
Pheasant, M ;
Makunin, I ;
Stephen, S ;
Kent, WJ ;
Mattick, JS ;
Haussler, D .
SCIENCE, 2004, 304 (5675) :1321-1325
[3]   Identification of hundreds of conserved and nonconserved human microRNAs [J].
Bentwich, I ;
Avniel, A ;
Karov, Y ;
Aharonov, R ;
Gilad, S ;
Barad, O ;
Barzilai, A ;
Einat, P ;
Einav, U ;
Meiri, E ;
Sharon, E ;
Spector, Y ;
Bentwich, Z .
NATURE GENETICS, 2005, 37 (07) :766-770
[4]   An overview of ensembl [J].
Birney, E ;
Andrews, TD ;
Bevan, P ;
Caccamo, M ;
Chen, Y ;
Clarke, L ;
Coates, G ;
Cuff, J ;
Curwen, V ;
Cutts, T ;
Down, T ;
Eyras, E ;
Fernandez-Suarez, XM ;
Gane, P ;
Gibbins, B ;
Gilbert, J ;
Hammond, M ;
Hotz, HR ;
Iyer, V ;
Jekosch, K ;
Kahari, A ;
Kasprzyk, A ;
Keefe, D ;
Keenan, S ;
Lehvaslaiho, H ;
McVicker, G ;
Melsopp, C ;
Meidl, P ;
Mongin, E ;
Pettett, R ;
Potter, S ;
Proctor, G ;
Rae, M ;
Searle, S ;
Slater, G ;
Smedley, D ;
Smith, J ;
Spooner, W ;
Stabenau, A ;
Stalker, J ;
Storey, R ;
Ureta-Vidal, A ;
Woodwark, KC ;
Cameron, G ;
Durbin, R ;
Cox, A ;
Hubbard, T ;
Clamp, M .
GENOME RESEARCH, 2004, 14 (05) :925-928
[5]   Reconstructing large regions of an ancestral mammalian genome in silico [J].
Blanchette, M ;
Green, ED ;
Miller, W ;
Haussler, D .
GENOME RESEARCH, 2004, 14 (12) :2412-2423
[6]   A comparative analysis of transcribed genes in the mouse hypothalamus and neocortex reveals chromosomal clustering [J].
Boon, WM ;
Beissbarth, T ;
Hyde, L ;
Smyth, G ;
Gunnersen, J ;
Denton, DA ;
Scott, H ;
Tan, SS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 (41) :14972-14977
[7]   Recent advances in gene structure prediction [J].
Brent, MR ;
Guigó, R .
CURRENT OPINION IN STRUCTURAL BIOLOGY, 2004, 14 (03) :264-272
[8]   ECTOPIC EXPRESSION OF THE H19 GENE IN MICE CAUSES PRENATAL LETHALITY [J].
BRUNKOW, ME ;
TILGHMAN, SM .
GENES & DEVELOPMENT, 1991, 5 (06) :1092-1101
[9]   The human transcriptome map:: Clustering of highly expressed genes in chromosomal domains [J].
Caron, H ;
van Schaik, B ;
van der Mee, M ;
Baas, F ;
Riggins, G ;
van Sluis, P ;
Hermus, MC ;
van Asperen, R ;
Boon, K ;
Voûte, PA ;
Heisterkamp, S ;
van Kampen, A ;
Versteeg, R .
SCIENCE, 2001, 291 (5507) :1289-+
[10]   Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution [J].
Cheng, J ;
Kapranov, P ;
Drenkow, J ;
Dike, S ;
Brubaker, S ;
Patel, S ;
Long, J ;
Stern, D ;
Tammana, H ;
Helt, G ;
Sementchenko, V ;
Piccolboni, A ;
Bekiranov, S ;
Bailey, DK ;
Ganesh, M ;
Ghosh, S ;
Bell, I ;
Gerhard, DS ;
Gingeras, TR .
SCIENCE, 2005, 308 (5725) :1149-1154