Human Chromosome 7: DNA Sequence and Biology

Author:

Scherer Stephen W.12345,Cheung Joseph12345,MacDonald Jeffrey R.12345,Osborne Lucy R.12345,Nakabayashi Kazuhiko12345,Herbrick Jo-Anne12345,Carson Andrew R.12345,Parker-Katiraee Layla12345,Skaug Jennifer12345,Khaja Razi12345,Zhang Junjun12345,Hudek Alexander K.12345,Li Martin12345,Haddad May12345,Duggan Gavin E.12345,Fernandez Bridget A.12345,Kanematsu Emiko12345,Gentles Simone12345,Christopoulos Constantine C.12345,Choufani Sanaa12345,Kwasnicka Dorota12345,Zheng Xiangqun H.12345,Lai Zhongwu12345,Nusskern Deborah12345,Zhang Qing12345,Gu Zhiping12345,Lu Fu12345,Zeesman Susan12345,Nowaczyk Malgorzata J.12345,Teshima Ikuko12345,Chitayat David12345,Shuman Cheryl12345,Weksberg Rosanna12345,Zackai Elaine H.12345,Grebe Theresa A.12345,Cox Sarah R.12345,Kirkpatrick Susan J.12345,Rahman Nazneen12345,Friedman Jan M.12345,Heng Henry H. Q.12345,Pelicci Pier Giuseppe12345,Lo-Coco Francesco12345,Belloni Elena12345,Shaffer Lisa G.12345,Pober Barbara12345,Morton Cynthia C.12345,Gusella James F.12345,Bruns Gail A. P.12345,Korf Bruce R.12345,Quade Bradley J.12345,Ligon Azra H.12345,Ferguson Heather12345,Higgins Anne W.12345,Leach Natalia T.12345,Herrick Steven R.12345,Lemyre Emmanuelle12345,Farra Chantal G.12345,Kim Hyung-Goo12345,Summers Anne M.12345,Gripp Karen W.12345,Roberts Wendy12345,Szatmari Peter12345,Winsor Elizabeth J. T.12345,Grzeschik Karl-Heinz12345,Teebi Ahmed12345,Minassian Berge A.12345,Kere Juha12345,Armengol Lluis12345,Pujana Miguel Angel12345,Estivill Xavier12345,Wilson Michael D.12345,Koop Ben F.12345,Tosi Sabrina12345,Moore Gudrun E.12345,Boright Andrew P.12345,Zlotorynski Eitan12345,Kerem Batsheva12345,Kroisel Peter M.12345,Petek Erwin12345,Oscier David G.12345,Mould Sarah J.12345,Döhner Hartmut12345,Döhner Konstanze12345,Rommens Johanna M.12345,Vincent John B.12345,Venter J. Craig12345,Li Peter W.12345,Mural Richard J.12345,Adams Mark D.12345,Tsui Lap-Chee12345

Affiliation:

1. Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.

2. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.

3. The Child Development Centre, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.

4. Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.

5. Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada, M5S 1A8.

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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