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Human chromosome 7: DNA sequence and biology.

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.

Pubmed ID: 12690205

Authors

  • 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

Journal

Science (New York, N.Y.)

Publication Data

May 2, 2003

Associated Grants

  • Agency: Canadian Institutes of Health Research, Id: 38103

Mesh Terms

  • 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