Human chromosome 7:: DNA sequence and biology

被引：154

作者：

Scherer, SW

Cheung, J

MacDonald, JR

Osborne, LR

Nakabayashi, K

Herbrick, JA

Carson, AR

Parker-Katiraee, L

Skaug, J

Khaja, R

Zhang, JJ

Hudek, AK

Li, M

Haddad, M

Duggan, GE

Fernandez, BA

Kanematsu, E

Gentles, S

Christopoulos, CC

Choufani, S

Kwasnicka, D

Zheng, XQH

Lai, ZW

Nusskern, D

Zhang, Q

Gu, ZP

Lu, F

Zeesman, S

Nowaczyk, MJ

Teshima, I

Chitayat, D

Shuman, C

Weksberg, R

Zackai, EH

Grebe, TA

Cox, SR

Kirkpatrick, SJ

Rahman, N

Friedman, JM

Heng, HHQ

Pelicci, PG

Lo-Coco, F

Belloni, E

Shaffer, LG

Pober, B

Morton, CC

Gusella, JF

Bruns, GAP

Korf, BR

Quade, BJ

机构：

[1] Hosp Sick Children, Dept Genet & Genom Biol, Toronto, ON M5G 1X8, Canada

[2] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

[3] Hosp Sick Children, Child Dev Ctr, Toronto, ON M5G 1X8, Canada

[4] Hosp Sick Children, Dept Paediat, Div Neurol, Toronto, ON M5G 1X8, Canada

[5] Univ Toronto, Dept Mol & Med Genet, Toronto, ON M5S 1A8, Canada

[6] Univ Toronto, Dept Med, Toronto, ON M5S 1A8, Canada

[7] Mem Univ Newfoundland, Fac Med, Discipline Genet, St John, NF A1B 3V6, Canada

[8] Celera Genom, Rockville, MD 20850 USA

[9] Hamilton Hlth Sci Ctr, Hamilton, ON L8N 3Z5, Canada

[10] McMaster Univ, Dept Psychiat & Behav Neurosci, Hamilton, ON L8N 3Z5, Canada

[11] Univ Toronto, Dept Pediat, Toronto, ON M5G 1X8, Canada

[12] Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

[13] Univ Phoenix Genet Program, Phoenix, AZ 85016 USA

[14] Univ Wisconsin, Dept Med Genet, Madison, WI 53706 USA

[15] Inst Canc Res, Sect Canc Genet, Sutton SM2 5NG, Surrey, England

[16] Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada

[17] Wayne State Univ, Sch Med, Detroit, MI 48202 USA

[18] European Inst Oncol, Dept Expt Oncol, I-20141 Milan, Italy

[19] Firc Inst Mol Oncol, Canc Genet Unit, I-20134 Milan, Italy

[20] Univ Roma Tor Vergata, Dipartimento Biopatol & Diagnost Immagini, I-00133 Rome, Italy

[21] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[22] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06520 USA

[23] Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Obstet Gynecol & Reprod Biol, Boston, MA 02115 USA

[24] Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA

[25] Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Neurol, Boston, MA 02115 USA

[26] Harvard Univ, Sch Med, Harvard Partners Ctr Genet & Genom, Boston, MA 02115 USA

[27] Harvard Univ, Sch Med, Massachusetts Gen Hosp, Mol Neurogenet Lab, Charlestown, MA 02129 USA

[28] Harvard Univ, Sch Med, Childrens Hosp, Dept Pediat, Boston, MA 02115 USA

[29] N York Gen Hosp, Dept Genet, Toronto, ON M2K 1E1, Canada

[30] Alfred I DuPont Hosp Children, Div Med Genet, Wilmington, DE 19899 USA

[31] Univ Toronto, Univ Hlth Network, Prenatal Diag Program, Toronto, ON M5G 1X5, Canada

[32] Univ Toronto, Univ Hlth Network, Dept Lab Med & Pathobiol, Toronto, ON M5G 1X5, Canada

[33] Univ Marburg, Med Zentrum Humangenet, D-35037 Marburg, Germany

[34] Karolinska Inst, Novum, Dept Biosci, S-14157 Stockholm, Sweden

[35] Huddinge Univ Hosp, Clin Res Ctr, S-14157 Stockholm, Sweden

[36] Ctr Genom Regulat, Program Genes & Dis, Barcelona 08003, Catalonia, Spain

[37] Univ Victoria, Dept Biol, Victoria, BC V8W 3N5, Canada

[38] John Radcliffe Hosp, Inst Mol Med, MRC, Mol Haematol Unit, Oxford OX3 9DS, England

[39] Univ London Imperial Coll Sci Technol & Med, Fac Med, Inst Reprod & Dev Biol, Dept Fetal & Maternal Med, London W12 0NN, England

[40] Univ Toronto, Univ Hlth Network, Dept Med, Div Endocrinol, Toronto, ON M5G 2C4, Canada

[41] Hebrew Univ Jerusalem, Inst Life Sci, Dept Genet, IL-91904 Jerusalem, Israel

[42] Karl Franzens Univ Graz, Inst Med Biol & Human Genet, A-8010 Graz, Austria

[43] Royal Bournemouth Hosp, Dept Haematol, Bournemouth BH7 7DW, Dorset, England

[44] Univ Hosp Ulm, Dept Internal Med 3, D-89081 Ulm, Germany

[45] Univ Toronto, Clark Inst, Ctr Addict & Mental Hlth, Toronto, ON M5T 1R8, Canada

[46] Univ Toronto, Dept Psychiat, Toronto, ON M5T 1R8, Canada

来源：

SCIENCE | 2003年 / 300卷 / 5620期

基金：

加拿大健康研究院;

关键词：

D O I：

10.1126/science.1083423

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：

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.

引用

页码：767 / 772

页数：6

共 31 条

[1] 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

[2] Mutations in SBDS are associated with Shwachman-Diamond syndrome [J].

Boocock, GRB ;

Morrison, JA ;

Popovic, M ;

Richards, N ;

Ellis, L ;

Durie, PR ;

Rommens, JM .

NATURE GENETICS, 2003, 33 (01) :97-101

[3] A collection of 1814 human chromosome 7-specific STSs [J].

Bouffard, GG ;

Iyer, LM ;

Idol, JR ;

Braden, VV ;

Cunningham, AF ;

Weintraub, LA ;

MohrTidwell, RM ;

Peluso, DC ;

Fulton, RS ;

Leckie, MP ;

Green, ED .

GENOME RESEARCH, 1997, 7 (01) :59-64

[4] Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence [J].

Cheung, J ;

Estivill, X ;

Khaja, R ;

MacDonald, JR ;

Lau, K ;

Tsui, LC ;

Scherer, SW .

GENOME BIOLOGY, 2003, 4 (04)

[5] Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7 [J].

de la Puente, A ;

Velasco, E ;

Jurado, LAP ;

Hernández-Chico, C ;

van de Rijke, FM ;

Scherer, SW ;

Raap, AK ;

Cruces, J .

CYTOGENETICS AND CELL GENETICS, 1998, 83 (3-4) :176-181

[6] The DNA sequence and comparative analysis of human chromosome 20 [J].

Deloukas, P ;

Matthews, LH ;

Ashurst, J ;

Burton, J ;

Gilbert, JGR ;

Jones, M ;

Stavrides, G ;

Almeida, JP ;

Babbage, AK ;

Bagguley, CL ;

Bailey, J ;

Barlow, KF ;

Bates, KN ;

Beard, LM ;

Beare, DM ;

Beasley, OP ;

Bird, CP ;

Blakey, SE ;

Bridgeman, AM ;

Brown, AJ ;

Buck, D ;

Burrill, W ;

Butler, AP ;

Carder, C ;

Carter, NP ;

Chapman, JC ;

Clamp, M ;

Clark, G ;

Clark, LN ;

Clark, SY ;

Clee, CM ;

Clegg, S ;

Cobley, VE ;

Collier, RE ;

Connor, R ;

Corby, NR ;

Coulson, A ;

Coville, GJ ;

Deadman, R ;

Dhami, P ;

Dunn, M ;

Ellington, AG ;

Frankland, JA ;

Fraser, A ;

French, L ;

Garner, P ;

Grafham, DV ;

Griffiths, C ;

Griffiths, ND ;

Gwilliam, R .

NATURE, 2001, 414 (6866) :865-U3

[7] A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].

Dib, C ;

Faure, S ;

Fizames, C ;

Samson, D ;

Drouot, N ;

Vignal, A ;

Millasseau, P ;

Marc, S ;

Hazan, J ;

Seboun, E ;

Lathrop, M ;

Gyapay, G ;

Morissette, J ;

Weissenbach, J .

NATURE, 1996, 380 (6570) :152-154

[8] The DNA sequence of human chromosome 22 [J].

Dunham, I ;

Shimizu, N ;

Roe, BA ;

Chissoe, S ;

Dunham, I ;

Hunt, AR ;

Collins, JE ;

Bruskiewich, R ;

Beare, DM ;

Clamp, M ;

Smink, LJ ;

Ainscough, R ;

Almeida, JP ;

Babbage, A ;

Bagguley, C ;

Balley, J ;

Barlow, K ;

Bates, KN ;

Beasley, O ;

Bird, CP ;

Blakey, S ;

Bridgeman, AM ;

Buck, D ;

Burgess, J ;

Burrill, WD ;

Burton, J ;

Carder, C ;

Carter, NP ;

Chen, Y ;

Clark, G ;

Clegg, SM ;

Cobley, V ;

Cole, CG ;

Collier, RE ;

Connor, RE ;

Conroy, D ;

Corby, N ;

Coville, GJ ;

Cox, AV ;

Davis, J ;

Dawson, E ;

Dhami, PD ;

Dockree, C ;

Dodsworth, SJ ;

Durbin, RM ;

Ellington, A ;

Evans, KL ;

Fey, JM ;

Fleming, K ;

French, L .

NATURE, 1999, 402 (6761) :489-495

[9]

*FANT CONS, 2002, NATURE, V420, P523

[10] The DNA sequence of human chromosome 21 [J].

Hattori, M ;

Fujiyama, A ;

Taylor, TD ;

Watanabe, H ;

Yada, T ;

Park, HS ;

Toyoda, A ;

Ishii, K ;

Totoki, Y ;

Choi, DK ;

Soeda, E ;

Ohki, M ;

Takagi, T ;

Sakaki, Y ;

Taudien, S ;

Blechschmidt, K ;

Polley, A ;

Menzel, U ;

Delabar, J ;

Kumpf, K ;

Lehmann, R ;

Patterson, D ;

Reichwald, K ;

Rump, A ;

Schillhabel, M ;

Schudy, A ;

Zimmermann, W ;

Rosenthal, A ;

Kudoh, J ;

Shibuya, K ;

Kawasaki, K ;

Asakawa, S ;

Shintani, A ;

Sasaki, T ;

Nagamine, K ;

Mitsuyama, S ;

Antonarakis, SE ;

Minoshima, S ;

Shimizu, N ;

Nordsiek, G ;

Hornischer, K ;

Brandt, P ;

Scharfe, M ;

Schön, O ;

Desario, A ;

Reichelt, J ;

Kauer, G ;

Blöcker, H ;

Ramser, J ;

Beck, A .

NATURE, 2000, 405 (6784) :311-319

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