Access

Article

Nature 421, 601-607 (6 February 2003) | doi:10.1038/nature01348; Received 20 August 2002; Accepted 3 December 2002; Published online 1 January 2003

Open Innovation Challenges

naturejobs

More science jobs
Post a job for free

The DNA sequence and analysis of human chromosome 14

Roland Heilig1,2, Ralph Eckenberg1,2, Jean-Louis Petit1,2, Núria Fonknechten1,2, Corinne Da Silva1,2, Laurence Cattolico1, Michaël Levy1, Valérie Barbe1, Véronique de Berardinis1, Abel Ureta-Vidal1, Eric Pelletier1,2, Virginie Vico1, Véronique Anthouard1, Lee Rowen3, Anup Madan3, Shizhen Qin3, Hui Sun4, Hui Du4, Kymberlie Pepin4, François Artiguenave1, Catherine Robert1, Corinne Cruaud1, Thomas Brüls1, Olivier Jaillon1,2, Lucie Friedlander1, Gaelle Samson1,2, Philippe Brottier1, Susan Cure1, Béatrice Ségurens1, Franck Anière1, Sylvie Samain1, Hervé Crespeau1, Nissa Abbasi3, Nathalie Aiach1, Didier Boscus1, Rachel Dickhoff3, Monica Dors3, Ivan Dubois1, Cynthia Friedman3, Michel Gouyvenoux1, Rose James3, Anuradha Madan3, Barbara Mairey–Estrada1, Sophie Mangenot1, Nathalie Martins1, Manuela Ménard1, Sophie Oztas1, Amber Ratcliffe3, Tristan Shaffer3, Barbara Trask3, Benoit Vacherie1, Chadia Bellemere1, Caroline Belser1, Marielle Besnard-Gonnet1, Delphine Bartol–Mavel1, Magali Boutard1, Stéphanie Briez-Silla1, Stephane Combette1, Virginie Dufossé-Laurent1, Carolyne Ferron1, Christophe Lechaplais1, Claudine Louesse1, Delphine Muselet1, Ghislaine Magdelenat1, Emilie Pateau1, Emmanuelle Petit1, Peggy Sirvain-Trukniewicz1, Arnaud Trybou1, Nathalie Vega-Czarny1, Elodie Bataille1, Elodie Bluet1, Isabelle Bordelais1, Maria Dubois1, Corinne Dumont1, Thomas Guérin1, Sébastien Haffray1, Rachid Hammadi1, Jacqueline Muanga1, Virginie Pellouin1, Dominique Robert1, Edith Wunderle1, Gilbert Gauguet1, Alice Roy1, Laurent Sainte-Marthe1, Jean Verdier1, Claude Verdier-Discala1, LaDeana Hillier4, Lucinda Fulton4, John McPherson4, Fumihiko Matsuda5, Richard Wilson4, Claude Scarpelli1, Gábor Gyapay1, Patrick Wincker1, William Saurin1, Francis Quétier1,2, Robert Waterston4, Leroy Hood3 & Jean Weissenbach1,2

  1. Genoscope-Centre National de Séquençage, 91000, Evry, France
  2. UMR-8030, CNRS et Université d'Evry, 91000, Evry, France
  3. Centre National de Génotypage, 91000, Evry, France
  4. Institute for Systems Biology, Seattle, Washington 98103, USA
  5. Genome Sequencing Center, Washington University School of Medicine, St Louis, Missouri 63108, USA

Correspondence to: Roland Heilig1,2 Correspondence and requests for materials should be addressed to R.H. (e-mail: Email: heilig@genoscope.cns.fr). The entire chromosome 14q sequence is deposited in EMBL under accession number AL954800.

Top

Chromosome 14 is one of five acrocentric chromosomes in the human genome. These chromosomes are characterized by a heterochromatic short arm that contains essentially ribosomal RNA genes, and a euchromatic long arm in which most, if not all, of the protein-coding genes are located. The finished sequence of human chromosome 14 comprises 87,410,661 base pairs, representing 100% of its euchromatic portion, in a single continuous segment covering the entire long arm with no gaps. Two loci of crucial importance for the immune system, as well as more than 60 disease genes, have been localized so far on chromosome 14. We identified 1,050 genes and gene fragments, and 393 pseudogenes. On the basis of comparisons with other vertebrate genomes, we estimate that more than 96% of the chromosome 14 genes have been annotated. From an analysis of the CpG island occurrences, we estimate that 70% of these annotated genes are complete at their 5' end.