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PMID: 12690205 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Human chromosome 7: DNA sequence and biology.

Science (New York, N.Y.) ·Vol. 300 ·No. 5620 ·2003-05-02 ·Pages 767-72

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 HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, 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 EJ, 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

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.

MeSH Terms

Animals Autistic Disorder/genetics Chromosome Aberrations Chromosome Fragile Sites Chromosome Fragility Chromosome Mapping Chromosomes, Human, Pair 7/genetics Computational Biology Congenital Abnormalities/genetics CpG Islands DNA, Complementary Databases, Genetic Euchromatin/genetics Expressed Sequence Tags Gene Duplication Genes, Overlapping Genetic Diseases, Inborn/genetics Genomic Imprinting Humans In Situ Hybridization, Fluorescence Limb Deformities, Congenital/genetics Mice Molecular Sequence Data Mutation Neoplasms/genetics Pseudogenes RNA/genetics Retroelements Sequence Analysis, DNA Williams Syndrome/genetics

Chemicals

DNA, Complementary Euchromatin Retroelements RNA

Authors & Affiliations

90 authors, click to expand affiliations / ORCID

Scherer Stephen W

Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8. steve@genet.sickkids.on.ca

Cheung Joseph

MacDonald Jeffrey R

Osborne Lucy R

Nakabayashi Kazuhiko

Herbrick Jo-Anne

Carson Andrew R

Parker-Katiraee Layla

Skaug Jennifer

Khaja Razi

Zhang Junjun

Hudek Alexander K

Li Martin

Haddad May

Duggan Gavin E

Fernandez Bridget A

Kanematsu Emiko

Gentles Simone

Christopoulos Constantine C

Choufani Sanaa

Kwasnicka Dorota

Zheng Xiangqun H

Lai Zhongwu

Nusskern Deborah

Zhang Qing

Gu Zhiping

Lu Fu

Zeesman Susan

Nowaczyk Malgorzata J

Teshima Ikuko

Chitayat David

Shuman Cheryl

Weksberg Rosanna

Zackai Elaine H

Grebe Theresa A

Cox Sarah R

Kirkpatrick Susan J

Rahman Nazneen

Friedman Jan M

Heng Henry H Q

Pelicci Pier Giuseppe

Lo-Coco Francesco

Belloni Elena

Shaffer Lisa G

Pober Barbara

Morton Cynthia C

Gusella James F

Bruns Gail A P

Korf Bruce R

Quade Bradley J

Ligon Azra H

Ferguson Heather

Higgins Anne W

Leach Natalia T

Herrick Steven R

Lemyre Emmanuelle

Farra Chantal G

Kim Hyung-Goo

Summers Anne M

Gripp Karen W

Roberts Wendy

Szatmari Peter

Winsor Elizabeth J T

Grzeschik Karl-Heinz

Teebi Ahmed

Minassian Berge A

Kere Juha

Armengol Lluis

Pujana Miguel Angel

Estivill Xavier

Wilson Michael D

Koop Ben F

Tosi Sabrina

Moore Gudrun E

Boright Andrew P

Zlotorynski Eitan

Kerem Batsheva

Kroisel Peter M

Petek Erwin

Oscier David G

Mould Sarah J

Döhner Hartmut

Döhner Konstanze

Rommens Johanna M

Vincent John B

Venter J Craig

Li Peter W

Mural Richard J

Adams Mark D

Tsui Lap-Chee

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Article Info

Journal

Science (New York, N.Y.)

Abbr.

Science

ISSN

1095-9203

DOI

10.1126/science.1083423

steve@genet.sickkids.on.ca

Published

2003-05-02

Epub

2003-00-10

Pages

767-72

Language

English

Region

United States

NLM ID

0404511

PMCID

PMC2882961

Subset

Grants

Canadian Institutes of Health Research · 38103 · Canada

NIGMS NIH HHS · P01 GM061354 · United States

External Links

PubMed source DOI: 10.1126/science.1083423 PMC Full Text View journal details

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Human chromosome 7: DNA sequence and biology.

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