Finishing the euchromatic sequence of the human genome

被引：3585

作者：

Collins, FS

Lander, ES

Rogers, J

Waterston, RH

机构：

[1] The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire

[2] Washington University, Genome Sequencing Center, Box 8501, 4444 Forest Park Avenue, St. Louis, 63108, MO

[3] Whitehead Institute for Biomedical Research, Center for Genome Research, Nine Cambridge Center, Cambridge, 02142, MA

[4] Eli and Edythe Broad Institute, 320 Charles Street, Cambridge, 02141-2023, MA

[5] US Department of Energy Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, 94598, CA

[6] Los Alamos National Laboratory (LANL), P.O. Box 1663, Los Alamos, 87545, NM

[7] Lawrence Berkeley National Laboratory (LBNL) One Cyclotron Road Berkeley, 94720, CA

[8] Lawrence Livermore National Laboratory (LLNL), 7000 East Ave., Livermore, 94550-9234, CA

[9] Stanford Human Genome Center, Stanford University School of Medicine, Palo Alto, 94305, CA

[10] Baylor College Of Medicine Human Genome Sequencing Center, Baylor College Of Medicine, One Baylor Plaza, Houston, 77030, TX

[11] RIKEN Genomic Sciences Center, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama City, 230-0045, Kanegawa

[12] University of Washington Genome Center, Fluke Hall on Mason Road, Box 352145, Seattle, 98195, WA

[13] Genoscope and CNRS UMR-8030, 2 Rue Gaston Cremieux, CP 5706, Evry Cedex

[14] Department of Molecular Biology, Keio University School of Medicine, 35 Shinanomachi Shinjuku-ku, Tokyo

[15] Setsunan University, Hirakata, Osaka

[16] Kyorin University School of Health Sciences, Hachioji, Tokyo

[17] Genome Therapeutics Corporation, 100 Beaver St., Waltham, 02453, MA

[18] Agencourt Bioscience Corp, 100 Cummings Center, Beverly, 01915, MA

[19] Institute for Systems Biology, 1441 N. 34th Street, Seattle, 98103, WA

[20] Department of Genome Analysis, Institute of Molecular Biotechnology, Beutenbergstrasse, 11, Jena

[21] Beijing Genomics Institute, Chinese Academy of Sciences/James D. Watson Institute of Genome Sciences

[22] Institute of Human Genomics Aarhus University, Aarhus

[23] Northern National Genome Center, Beijing

[24] Southern National Genome Center, Shanghai

[25] School of Medicine, Southeast University, Nanjing

[26] College of Life Sciences, Peking University, Beijing

[27] Center of Bio-X Life Sciences, University of Communication, Shanghai

[28] Department of Medical Genetics, University of Washington, Seattle

[29] Institute of Biophysics, Chinese Academy of Sciences, Beijing

[30] Genome Sequence Center, BC Cancer Research Center, Vancouver

[31] Institute of Microbiology, Chinese Academy of Sciences, Beijing

[32] Medical college, Xi’an Jiaotong University, Xi’an

[33] Hebei Medical University, Shijiazhuang

[34] The High School Affiliated to Renmin University Of China, Beijing

[35] Wenzhou Medical College, Wenzhou

[36] Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin

[37] Department of Genome Analysis, GBF – German Research Centre for Biotechnology, Mascheroder Weg 1, Braunschweig

[38] Advanced Center for Genetic Technology, Applied Biosystems Division of Perkin-Elmer Corp., Foster City, 94404, CA

[39] Vita Genomics, Inc., 7FL, NO. 6, SEC. 1, JungShing Road, Wugu Shiang, Taipei

[40] Department of Computer Science, University of California at Santa Cruz, Santa Cruz, 95064, CA

[41] National Center for Biotechnology Information, National Institutes of Health, Bldg 38A 8600 Rockville Pike, Bethesda, 20894, MS

[42] MRC Functional Genetics Unit, University of Oxford, Department of Human Anatomy and Genetics, South Parks Road, Oxford

[43] Department of Genetics, Case Western Reserve University, 2109 Adelbert Road, Cleveland, 44106, OH

[44] Wistar Institute, 36th & Spruce Streets, Philadelphia, 19104, PA

[45] Scientific management National Human Genome Research Institute, National Institutes of Health, Bethesda, 20892, MD

来源：

NATURE | 2004年 / 431卷 / 7011期

基金：

美国国家科学基金会;

关键词：

D O I：

10.1038/nature03001

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 [理学]; 0710 [生物学]; 09 [农学];

摘要：

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers similar to99% of the euchromatic genome and is accurate to an error rate of similar to1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human genome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead.

引用

页码：931 / 945

页数：15

共 71 条

[1]

The genome sequence of Drosophila melanogaster [J].

Adams, MD ;

Celniker, SE ;

Holt, RA ;

Evans, CA ;

Gocayne, JD ;

Amanatides, PG ;

Scherer, SE ;

Li, PW ;

Hoskins, RA ;

Galle, RF ;

George, RA ;

Lewis, SE ;

Richards, S ;

Ashburner, M ;

Henderson, SN ;

Sutton, GG ;

Wortman, JR ;

Yandell, MD ;

Zhang, Q ;

Chen, LX ;

Brandon, RC ;

Rogers, YHC ;

Blazej, RG ;

Champe, M ;

Pfeiffer, BD ;

Wan, KH ;

Doyle, C ;

Baxter, EG ;

Helt, G ;

Nelson, CR ;

Miklos, GLG ;

Abril, JF ;

Agbayani, A ;

An, HJ ;

Andrews-Pfannkoch, C ;

Baldwin, D ;

Ballew, RM ;

Basu, A ;

Baxendale, J ;

Bayraktaroglu, L ;

Beasley, EM ;

Beeson, KY ;

Benos, PV ;

Berman, BP ;

Bhandari, D ;

Bolshakov, S ;

Borkova, D ;

Botchan, MR ;

Bouck, J ;

Brokstein, P .

SCIENCE, 2000, 287 (5461) :2185-2195

[2]

[Anonymous], 1998, SCIENCE, V282, P2012

[3]

Analysis of segmental duplications and genome assembly in the mouse [J].

Bailey, JA ;

Church, DM ;

Ventura, M ;

Rocchi, M ;

Eichler, EE .

GENOME RESEARCH, 2004, 14 (05) :789-801

[4]

Recent segmental duplications in the human genome [J].

Bailey, JA ;

Gu, ZP ;

Clark, RA ;

Reinert, K ;

Samonte, RV ;

Schwartz, S ;

Adams, MD ;

Myers, EW ;

Li, PW ;

Eichler, EE .

SCIENCE, 2002, 297 (5583) :1003-1007

[5]

Human-specific duplication and mosaic transcripts: The recent paralogous structure of chromosome 22 [J].

Bailey, JA ;

Yavor, AM ;

Viggiano, L ;

Misceo, D ;

Horvath, JE ;

Archidiacono, N ;

Schwartz, S ;

Rocchi, M ;

Eichler, EE .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (01) :83-100

[6]

MicroRNAs: Genomics, biogenesis, mechanism, and function (Reprinted from Cell, vol 116, pg 281-297, 2004) [J].

Bartel, David P. .

CELL, 2007, 131 (04) :11-29

[7]

The complete genome sequence of Escherichia coli K-12 [J].

Blattner, FR ;

Plunkett, G ;

Bloch, CA ;

Perna, NT ;

Burland, V ;

Riley, M ;

ColladoVides, J ;

Glasner, JD ;

Rode, CK ;

Mayhew, GF ;

Gregor, J ;

Davis, NW ;

Kirkpatrick, HA ;

Goeden, MA ;

Rose, DJ ;

Mau, B ;

Shao, Y .

SCIENCE, 1997, 277 (5331) :1453-+

[8]

Celniker Susan., 2002, GENOME BIOL, V3, DOI [10.1186/gb-2002-3-12-research0079, DOI 10.1186/GB-2002-3-12-RESEARCH0079]

[9]

Finding functional features in Saccharomyces genomes by phylogenetic footprinting [J].

Cliften, P ;

Sudarsanam, P ;

Desikan, A ;

Fulton, L ;

Fulton, B ;

Majors, J ;

Waterston, R ;

Cohen, BA ;

Johnston, M .

SCIENCE, 2003, 301 (5629) :71-76

[10]

Surveying Saccharomyces genomes to identify functional elements by comparative DNA sequence analysis [J].

Cliften, PF ;

Hillier, LW ;

Fulton, L ;

Graves, T ;

Miner, T ;

Gish, WR ;

Waterston, RH ;

Johnston, M .

GENOME RESEARCH, 2001, 11 (07) :1175-1186

← 1 2 3 4 5 6 7 8 →