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; Lluis 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 ChoufaniDorota 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, Lluis 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

Division of Evolution, Infection and Genomics

The Hospital for Sick Children

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

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)	767-72
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

Keywords

Animals
Autistic Disorder
Chromosome Aberrations
Chromosome Fragile Sites
Chromosome Fragility
Chromosome Mapping
Chromosomes, Human, Pair 7
Computational Biology
Congenital Abnormalities
CpG Islands
DNA, Complementary
Databases, Genetic
Euchromatin
Expressed Sequence Tags
Gene Duplication
Genes, Overlapping
Genetic Diseases, Inborn
Genomic Imprinting
Humans
In Situ Hybridization, Fluorescence
Limb Deformities, Congenital
Mice
Molecular Sequence Data
Mutation
Neoplasms
Pseudogenes
RNA
Retroelements
Sequence Analysis, DNA
Williams Syndrome
Journal Article
Research Support, Non-U.S. Gov't

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10.1126/science.1083423

Cite this

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), 767-72. https://doi.org/10.1126/science.1083423

@article{64c5f636447c4f5e9e6297dc078dbb22,

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.",

keywords = "Animals, Autistic Disorder, Chromosome Aberrations, Chromosome Fragile Sites, Chromosome Fragility, Chromosome Mapping, Chromosomes, Human, Pair 7, Computational Biology, Congenital Abnormalities, CpG Islands, DNA, Complementary, Databases, Genetic, Euchromatin, Expressed Sequence Tags, Gene Duplication, Genes, Overlapping, Genetic Diseases, Inborn, Genomic Imprinting, Humans, In Situ Hybridization, Fluorescence, Limb Deformities, Congenital, Mice, Molecular Sequence Data, Mutation, Neoplasms, Pseudogenes, RNA, Retroelements, Sequence Analysis, DNA, Williams Syndrome, Journal Article, Research Support, Non-U.S. Gov't",

author = "Scherer, {Stephen W} and Joseph Cheung and MacDonald, {Jeffrey R} and Osborne, {Lucy R} and Kazuhiko Nakabayashi and Jo-Anne Herbrick 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 Hyung-Goo Kim and Summers, {Anne M} and Gripp, {Karen W} and Wendy Roberts and Peter Szatmari and Winsor, {Elizabeth J T} and Karl-Heinz Grzeschik and Ahmed Teebi and Minassian, {Berge A} and Juha Kere and Lluis 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 Lap-Chee Tsui",

year = "2003",

month = may,

day = "2",

doi = "10.1126/science.1083423",

language = "English",

volume = "300",

pages = "767--72",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science (A A A S)",

number = "5620",

}

Scherer, SW, Cheung, J, MacDonald, JR, Osborne, LR, Nakabayashi, K, Herbrick, J-A, 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, H-G, Summers, AM, Gripp, KW, Roberts, W, Szatmari, P, Winsor, EJT, Grzeschik, K-H, 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, L-C 2003, 'Human chromosome 7: DNA sequence and biology', Science, vol. 300, no. 5620, pp. 767-72. 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, Lluis

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.

KW - Animals

KW - Autistic Disorder

KW - Chromosome Aberrations

KW - Chromosome Fragile Sites

KW - Chromosome Fragility

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 7

KW - Computational Biology

KW - Congenital Abnormalities

KW - CpG Islands

KW - DNA, Complementary

KW - Databases, Genetic

KW - Euchromatin

KW - Expressed Sequence Tags

KW - Gene Duplication

KW - Genes, Overlapping

KW - Genetic Diseases, Inborn

KW - Genomic Imprinting

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Limb Deformities, Congenital

KW - Mice

KW - Molecular Sequence Data

KW - Mutation

KW - Neoplasms

KW - Pseudogenes

KW - RNA

KW - Retroelements

KW - Sequence Analysis, DNA

KW - Williams Syndrome

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1126/science.1083423

DO - 10.1126/science.1083423

M3 - Article

C2 - 12690205

SN - 0036-8075

VL - 300

SP - 767

EP - 772

JO - Science

JF - Science

IS - 5620

ER -

Human chromosome 7: DNA sequence and biology

Abstract

Keywords

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