The DNA sequence and analysis of human chromosome 14.

TitleThe DNA sequence and analysis of human chromosome 14.
Publication TypeJournal Article
Year of Publication2003
AuthorsHeilig, R, Eckenberg, R, Petit, J-L, Fonknechten, N, Da Silva, C, Cattolico, L, Levy, M, Barbe, V, de Berardinis, V, Ureta-Vidal, A, Pelletier, E, Vico, V, Anthouard, V, Rowen, L, Madan, A, Qin, S, Sun, H, Du, H, Pepin, K, Artiguenave, F, Robert, C, Cruaud, C, Brüls, T, Jaillon, O, Friedlander, L, Samson, G, Brottier, P, Cure, S, Ségurens, B, Anière, F, Samain, S, Crespeau, H, Abbasi, N, Aiach, N, Boscus, D, Dickhoff, R, Dors, M, Dubois, I, Friedman, C, Gouyvenoux, M, James, R, Madan, A, Mairey-Estrada, B, Mangenot, S, Martins, N, Ménard, M, Oztas, S, Ratcliffe, A, Shaffer, T, Trask, B, Vacherie, B, Bellemere, C, Belser, C, Besnard-Gonnet, M, Bartol-Mavel, D, Boutard, M, Briez-Silla, S, Combette, S, Dufossé-Laurent, V, Ferron, C, Lechaplais, C, Louesse, C, Muselet, D, Magdelenat, G, Pateau, E, Petit, E, Sirvain-Trukniewicz, P, Trybou, A, Vega-Czarny, N, Bataille, E, Bluet, E, Bordelais, I, Dubois, M, Dumont, C, Guérin, T, Haffray, S, Hammadi, R, Muanga, J, Pellouin, V, Robert, D, Wunderle, E, Gauguet, G, Roy, A, Sainte-Marthe, L, Verdier, J, Verdier-Discala, C, Hillier, LD, Fulton, L, McPherson, J, Matsuda, F, Wilson, R, Scarpelli, C, Gyapay, G, Wincker, P, Saurin, W, Quétier, F, Waterston, R, Hood, L, Weissenbach, J
JournalNature
Volume421
Issue6923
Pagination601-7
Date Published2003 Feb 06
ISSN0028-0836
Keywords5' Untranslated Regions, Animals, Base Composition, Chromosomes, Artificial, Chromosomes, Human, Pair 14, CpG Islands, DNA, Mitochondrial, DNA, Ribosomal, Genes, Genomics, Humans, Immunity, Mice, Microsatellite Repeats, Molecular Sequence Data, Open Reading Frames, Physical Chromosome Mapping, Pseudogenes, Reproducibility of Results, Sequence Analysis, DNA, Synteny
Abstract

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.

DOI10.1038/nature01348
Alternate JournalNature
PubMed ID12508121

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