Human chromosome 7: DNA sequence and biology

Stephen W. Scherer; Joseph Cheung; Jeffrey R. MacDonald; Lucy R. Osborne; Kazuhiko Nakabayashi; Jo Anne Herbrick; Andrew R. Carson; Layla Parker-Katiraee; Jennifer Skaug; Razi Khaja; Junjun Zhang; Alexander K. Hudek; Martin Li; May Haddad; Gavin E. Duggan; Bridget A. Fernandez; Emiko Kanematsu; Simone Gentles; Constantine C. Christopoulos; Sanaa Choufani; Dorota Kwasnicka; Xiangqun H. Zheng; Zhongwu Lai; Deborah Nusskern; Qing Zhang; Zhiping Gu; Fu Lu; Susan Zeesman; Malgorzata J. Nowaczyk; Ikuko Teshima; David Chitayat; Cheryl Shuman; Rosanna Weksberg; Elaine H. Zackai; Theresa A. Grebe; Sarah R. Cox; Susan J. Kirkpatrick; Nazneen Rahman; Jan M. Friedman; Henry H.Q. Heng; Pier Giuseppe Pelicci; Francesco Lo-Coco; Elena Belloni; Lisa G. Shaffer; Barbara Pober; Cynthia C. Morton; James F. Gusella; Gail A.P. Bruns; Bruce R. Korf; Bradley J. Quade; Azra H. Ligon; Heather Ferguson; Anne W. Higgins; Natalia T. Leach; Steven R. Herrick; Emmanuelle Lemyre; Chantal G. Farra; Hyung Goo Kim; Anne M. Summers; Karen W. Gripp; Wendy Roberts; Peter Szatmari; Elizabeth J.T. Winsor; Karl Heinz Grzeschik; Ahmed Teebi; Berge A. Minassian; Juha Kere; Luis Armengol; Miguel Angel Pujana; Xavier Estivill; Michael D. Wilson; Ben F. Koop; Sabrina Tosi; Gudrun E. Moore; Andrew P. Boright; Eitan Zlotorynski; Batsheva Kerem; Peter M. Kroisel; Erwin Petek; David G. Oscier; Sarah J. Mould; Hartmut Döhner; Konstanze Döhner; Johanna M. Rommens; John B. Vincent; J. Craig Venter; Peter W. Li; Richard J. Mural; Mark D. Adams; Lap Chee Tsui

doi:10.1126/science.1083423

Human chromosome 7: DNA sequence and biology

Stephen W. Scherer^*
, Joseph Cheung
, Jeffrey R. MacDonald
, Lucy R. Osborne
, Kazuhiko Nakabayashi
, Jo Anne Herbrick
, Andrew R. Carson
, Layla Parker-Katiraee
, Jennifer Skaug
, Razi Khaja
, Junjun Zhang
, Alexander K. Hudek
, Martin Li
, May Haddad
, Gavin E. Duggan
, Bridget A. Fernandez
, Emiko Kanematsu
, Simone Gentles
, Constantine C. Christopoulos
, Sanaa Choufani

Dorota Kwasnicka, Xiangqun H. Zheng, Zhongwu Lai, Deborah Nusskern, Qing Zhang, Zhiping Gu, Fu Lu, Susan Zeesman, Malgorzata J. Nowaczyk, Ikuko Teshima, David Chitayat, Cheryl Shuman, Rosanna Weksberg, Elaine H. Zackai, Theresa A. Grebe, Sarah R. Cox, Susan J. Kirkpatrick, Nazneen Rahman, Jan M. Friedman, Henry H.Q. Heng, Pier Giuseppe Pelicci, Francesco Lo-Coco, Elena Belloni, Lisa G. Shaffer, Barbara Pober, Cynthia C. Morton, James F. Gusella, Gail A.P. Bruns, Bruce R. Korf, Bradley J. Quade, Azra H. Ligon, Heather Ferguson, Anne W. Higgins, Natalia T. Leach, Steven R. Herrick, Emmanuelle Lemyre, Chantal G. Farra, Hyung Goo Kim, Anne M. Summers, Karen W. Gripp, Wendy Roberts, Peter Szatmari, Elizabeth J.T. Winsor, Karl Heinz Grzeschik, Ahmed Teebi, Berge A. Minassian, Juha Kere, Luis Armengol, Miguel Angel Pujana, Xavier Estivill, Michael D. Wilson, Ben F. Koop, Sabrina Tosi, Gudrun E. Moore, Andrew P. Boright, Eitan Zlotorynski, Batsheva Kerem, Peter M. Kroisel, Erwin Petek, David G. Oscier, Sarah J. Mould, Hartmut Döhner, Konstanze Döhner, Johanna M. Rommens, John B. Vincent, J. Craig Venter, Peter W. Li, Richard J. Mural, Mark D. Adams, Lap Chee Tsui

^*Corresponding author for this work

University of Toronto
Memorial University of Newfoundland
Celera Genomics
McMaster University
Children's Hospital of Philadelphia
University of Phoenix
University of Wisconsin-Madison
Section of Cancer Genetics
University of British Columbia
Wayne State University
IRCCS Istituto Europeo di Oncologia - Milano
FIRC Institute of Molecular Oncology
University of Rome Tor Vergata
Baylor College of Medicine
Yale University
Brigham and Women’s Hospital
Harvard University
Massachusetts General Hospital
Boston Children's Hospital
North York General Hospital
Alfred I. duPont Hospital for Children
University Health Network
University of Marburg
Karolinska Institutet
Centre for Genomic Regulation
University of Victoria BC
John Radcliffe Hospital
Imperial College London
Hebrew University of Jerusalem
University of Graz
University Hospitals Dorset NHS Foundation Trust
Ulm University
The University of Hong Kong

Research output: Contribution to journal › Article › peer-review

181 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	767-772
Number of pages	6
Journal	Science
Volume	300
Issue number	5620
DOIs	https://doi.org/10.1126/science.1083423
Publication status	Published - 2 May 2003
Externally published	Yes

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10.1126/science.1083423

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Scherer, S. W., Cheung, J., MacDonald, J. R., Osborne, L. R., Nakabayashi, K., Herbrick, J. A., Carson, A. R., Parker-Katiraee, L., Skaug, J., Khaja, R., Zhang, J., Hudek, A. K., Li, M., Haddad, M., Duggan, G. E., Fernandez, B. A., Kanematsu, E., Gentles, S., Christopoulos, C. C., ... Tsui, L. C. (2003). Human chromosome 7: DNA sequence and biology. Science, 300(5620), 767-772. https://doi.org/10.1126/science.1083423

@article{6ddc67acf2cc4527b07b5b9a79182009,

title = "Human chromosome 7: DNA sequence and biology",

abstract = "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.",

author = "Scherer, \{Stephen W.\} and Joseph Cheung and MacDonald, \{Jeffrey R.\} and Osborne, \{Lucy R.\} and Kazuhiko Nakabayashi and Herbrick, \{Jo Anne\} and Carson, \{Andrew R.\} and Layla Parker-Katiraee and Jennifer Skaug and Razi Khaja and Junjun Zhang and Hudek, \{Alexander K.\} and Martin Li and May Haddad and Duggan, \{Gavin E.\} and Fernandez, \{Bridget A.\} and Emiko Kanematsu and Simone Gentles and Christopoulos, \{Constantine C.\} and Sanaa Choufani and Dorota Kwasnicka and Zheng, \{Xiangqun H.\} and Zhongwu Lai and Deborah Nusskern and Qing Zhang and Zhiping Gu and Fu Lu and Susan Zeesman and Nowaczyk, \{Malgorzata J.\} and Ikuko Teshima and David Chitayat and Cheryl Shuman and Rosanna Weksberg and Zackai, \{Elaine H.\} and Grebe, \{Theresa A.\} and Cox, \{Sarah R.\} and Kirkpatrick, \{Susan J.\} and Nazneen Rahman and Friedman, \{Jan M.\} and Heng, \{Henry H.Q.\} and Pelicci, \{Pier Giuseppe\} and Francesco Lo-Coco and Elena Belloni and Shaffer, \{Lisa G.\} and Barbara Pober and Morton, \{Cynthia C.\} and Gusella, \{James F.\} and Bruns, \{Gail A.P.\} and Korf, \{Bruce R.\} and Quade, \{Bradley J.\} and Ligon, \{Azra H.\} and Heather Ferguson and Higgins, \{Anne W.\} and Leach, \{Natalia T.\} and Herrick, \{Steven R.\} and Emmanuelle Lemyre and Farra, \{Chantal G.\} and Kim, \{Hyung Goo\} and Summers, \{Anne M.\} and Gripp, \{Karen W.\} and Wendy Roberts and Peter Szatmari and Winsor, \{Elizabeth J.T.\} and Grzeschik, \{Karl Heinz\} and Ahmed Teebi and Minassian, \{Berge A.\} and Juha Kere and Luis Armengol and Pujana, \{Miguel Angel\} and Xavier Estivill and Wilson, \{Michael D.\} and Koop, \{Ben F.\} and Sabrina Tosi and Moore, \{Gudrun E.\} and Boright, \{Andrew P.\} and Eitan Zlotorynski and Batsheva Kerem and Kroisel, \{Peter M.\} and Erwin Petek and Oscier, \{David G.\} and Mould, \{Sarah J.\} and Hartmut D{\"o}hner and Konstanze D{\"o}hner and Rommens, \{Johanna M.\} and Vincent, \{John B.\} and Venter, \{J. Craig\} and Li, \{Peter W.\} and Mural, \{Richard J.\} and Adams, \{Mark D.\} and Tsui, \{Lap Chee\}",

year = "2003",

month = may,

day = "2",

doi = "10.1126/science.1083423",

language = "English",

volume = "300",

pages = "767--772",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

number = "5620",

}

Scherer, SW, Cheung, J, MacDonald, JR, Osborne, LR, Nakabayashi, K, Herbrick, JA, Carson, AR, Parker-Katiraee, L, Skaug, J, Khaja, R, Zhang, J, Hudek, AK, Li, M, Haddad, M, Duggan, GE, Fernandez, BA, Kanematsu, E, Gentles, S, Christopoulos, CC, Choufani, S, Kwasnicka, D, Zheng, XH, Lai, Z, Nusskern, D, Zhang, Q, Gu, Z, 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, Ligon, AH, Ferguson, H, Higgins, AW, Leach, NT, Herrick, SR, Lemyre, E, Farra, CG, Kim, HG, Summers, AM, Gripp, KW, Roberts, W, Szatmari, P, Winsor, EJT, Grzeschik, KH, Teebi, A, Minassian, BA, Kere, J, Armengol, L, Pujana, MA, Estivill, X, Wilson, MD, Koop, BF, Tosi, S, Moore, GE, Boright, AP, Zlotorynski, E, Kerem, B, Kroisel, PM, Petek, E, Oscier, DG, Mould, SJ, Döhner, H, Döhner, K, Rommens, JM, Vincent, JB, Venter, JC, Li, PW, Mural, RJ, Adams, MD & Tsui, LC 2003, 'Human chromosome 7: DNA sequence and biology', Science, vol. 300, no. 5620, pp. 767-772. https://doi.org/10.1126/science.1083423

TY - JOUR

T1 - Human chromosome 7

T2 - DNA sequence and biology

AU - Scherer, Stephen W.

AU - Cheung, Joseph

AU - MacDonald, Jeffrey R.

AU - Osborne, Lucy R.

AU - Nakabayashi, Kazuhiko

AU - Herbrick, Jo Anne

AU - Carson, Andrew R.

AU - Parker-Katiraee, Layla

AU - Skaug, Jennifer

AU - Khaja, Razi

AU - Zhang, Junjun

AU - Hudek, Alexander K.

AU - Li, Martin

AU - Haddad, May

AU - Duggan, Gavin E.

AU - Fernandez, Bridget A.

AU - Kanematsu, Emiko

AU - Gentles, Simone

AU - Christopoulos, Constantine C.

AU - Choufani, Sanaa

AU - Kwasnicka, Dorota

AU - Zheng, Xiangqun H.

AU - Lai, Zhongwu

AU - Nusskern, Deborah

AU - Zhang, Qing

AU - Gu, Zhiping

AU - Lu, Fu

AU - Zeesman, Susan

AU - Nowaczyk, Malgorzata J.

AU - Teshima, Ikuko

AU - Chitayat, David

AU - Shuman, Cheryl

AU - Weksberg, Rosanna

AU - Zackai, Elaine H.

AU - Grebe, Theresa A.

AU - Cox, Sarah R.

AU - Kirkpatrick, Susan J.

AU - Rahman, Nazneen

AU - Friedman, Jan M.

AU - Heng, Henry H.Q.

AU - Pelicci, Pier Giuseppe

AU - Lo-Coco, Francesco

AU - Belloni, Elena

AU - Shaffer, Lisa G.

AU - Pober, Barbara

AU - Morton, Cynthia C.

AU - Gusella, James F.

AU - Bruns, Gail A.P.

AU - Korf, Bruce R.

AU - Quade, Bradley J.

AU - Ligon, Azra H.

AU - Ferguson, Heather

AU - Higgins, Anne W.

AU - Leach, Natalia T.

AU - Herrick, Steven R.

AU - Lemyre, Emmanuelle

AU - Farra, Chantal G.

AU - Kim, Hyung Goo

AU - Summers, Anne M.

AU - Gripp, Karen W.

AU - Roberts, Wendy

AU - Szatmari, Peter

AU - Winsor, Elizabeth J.T.

AU - Grzeschik, Karl Heinz

AU - Teebi, Ahmed

AU - Minassian, Berge A.

AU - Kere, Juha

AU - Armengol, Luis

AU - Pujana, Miguel Angel

AU - Estivill, Xavier

AU - Wilson, Michael D.

AU - Koop, Ben F.

AU - Tosi, Sabrina

AU - Moore, Gudrun E.

AU - Boright, Andrew P.

AU - Zlotorynski, Eitan

AU - Kerem, Batsheva

AU - Kroisel, Peter M.

AU - Petek, Erwin

AU - Oscier, David G.

AU - Mould, Sarah J.

AU - Döhner, Hartmut

AU - Döhner, Konstanze

AU - Rommens, Johanna M.

AU - Vincent, John B.

AU - Venter, J. Craig

AU - Li, Peter W.

AU - Mural, Richard J.

AU - Adams, Mark D.

AU - Tsui, Lap Chee

PY - 2003/5/2

Y1 - 2003/5/2

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/0038756128

U2 - 10.1126/science.1083423

DO - 10.1126/science.1083423

M3 - Article

C2 - 12690205

AN - SCOPUS:0038756128

SN - 0036-8075

VL - 300

SP - 767

EP - 772

JO - Science

JF - Science

IS - 5620

ER -

Human chromosome 7: DNA sequence and biology

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