Heilig Roland, Eckenberg Ralph, Petit Jean-Louis, Fonknechten Núria, Da Silva Corinne, Cattolico Laurence, Levy Michaël, Barbe Valérie, de Berardinis Véronique, Ureta-Vidal Abel, Pelletier Eric, Vico Virginie, Anthouard Véronique, Rowen Lee, Madan Anup, Qin Shizhen, Sun Hui, Du Hui, Pepin Kymberlie, Artiguenave François, Robert Catherine, Cruaud Corinne, Brüls Thomas, Jaillon Olivier, Friedlander Lucie, Samson Gaelle, Brottier Philippe, Cure Susan, Ségurens Béatrice, Anière Franck, Samain Sylvie, Crespeau Hervé, Abbasi Nissa, Aiach Nathalie, Boscus Didier, Dickhoff Rachel, Dors Monica, Dubois Ivan, Friedman Cynthia, Gouyvenoux Michel, James Rose, Madan Anuradha, Mairey-Estrada Barbara, Mangenot Sophie, Martins Nathalie, Ménard Manuela, Oztas Sophie, Ratcliffe Amber, Shaffer Tristan, Trask Barbara, Vacherie Benoit, Bellemere Chadia, Belser Caroline, Besnard-Gonnet Marielle, Bartol-Mavel Delphine, Boutard Magali, Briez-Silla Stéphanie, Combette Stephane, Dufossé-Laurent Virginie, Ferron Carolyne, Lechaplais Christophe, Louesse Claudine, Muselet Delphine, Magdelenat Ghislaine, Pateau Emilie, Petit Emmanuelle, Sirvain-Trukniewicz Peggy, Trybou Arnaud, Vega-Czarny Nathalie, Bataille Elodie, Bluet Elodie, Bordelais Isabelle, Dubois Maria, Dumont Corinne, Guérin Thomas, Haffray Sébastien, Hammadi Rachid, Muanga Jacqueline, Pellouin Virginie, Robert Dominique, Wunderle Edith, Gauguet Gilbert, Roy Alice, Sainte-Marthe Laurent, Verdier Jean, Verdier-Discala Claude, Hillier LaDeana, Fulton Lucinda, McPherson John, Matsuda Fumihiko, Wilson Richard, Scarpelli Claude, Gyapay Gábor, Wincker Patrick, Saurin William, Quétier Francis, Waterston Robert, Hood Leroy, Weissenbach Jean
Genoscope-Centre National de Séquençage, 91000, Evry, France.
Nature. 2003 Feb 6;421(6923):601-7. doi: 10.1038/nature01348. Epub 2003 Jan 1.
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.
14号染色体是人类基因组中的五条近端着丝粒染色体之一。这些染色体的特征是有一条主要包含核糖体RNA基因的异染色质短臂，以及一条常染色质长臂，其中大部分（如果不是全部）蛋白质编码基因都位于此。人类14号染色体的完整序列由87,410,661个碱基对组成，代表其常染色质部分的100%，在一个覆盖整个长臂且无间隙的连续片段中。迄今为止，在14号染色体上已定位了两个对免疫系统至关重要的基因座以及60多个疾病基因。我们鉴定出1050个基因和基因片段以及393个假基因。通过与其他脊椎动物基因组进行比较，我们估计14号染色体上超过96%的基因已得到注释。根据对CpG岛出现情况的分析，我们估计这些已注释基因中有70%在其5'端是完整的。
