The DNA sequence and biology of human chromosome 19.

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Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM

The DNA sequence and biology of human chromosome 19.

Nature. 2004 Apr 1;428(6982):529-35.

PubMed ID
15057824 [ View in PubMed
]
Abstract

Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G + C content, CpG islands and density of repetitive DNA indicate a chromosome rich in biological and evolutionary significance. Here we describe 55.8 million base pairs of highly accurate finished sequence representing 99.9% of the euchromatin portion of the chromosome. Manual curation of gene loci reveals 1,461 protein-coding genes and 321 pseudogenes. Among these are genes directly implicated in mendelian disorders, including familial hypercholesterolaemia and insulin-resistant diabetes. Nearly one-quarter of these genes belong to tandemly arranged families, encompassing more than 25% of the chromosome. Comparative analyses show a fascinating picture of conservation and divergence, revealing large blocks of gene orthology with rodents, scattered regions with more recent gene family expansions and deletions, and segments of coding and non-coding conservation with the distant fish species Takifugu.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Insulin receptorP06213Details
Phenylalanine--tRNA ligase alpha subunitQ9Y285Details
Ferritin light chainP02792Details
Carcinoembryonic antigen-related cell adhesion molecule 1P13688Details
B-cell receptor CD22P20273Details
DNA ligase 1P18858Details
Neutral amino acid transporter B(0)Q15758Details
NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrialO75251Details
Potassium-transporting ATPase alpha chain 1P20648Details
Voltage-dependent P/Q-type calcium channel subunit alpha-1AO00555Details
Ornithine decarboxylase antizyme 1P54368Details
Glutamate receptor ionotropic, NMDA 2DO15399Details
ATP synthase subunit delta, mitochondrialP30049Details
Low-density lipoprotein receptorP01130Details
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13Q9P0J0Details
Glutamate receptor ionotropic, NMDA 3BO60391Details
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11Q86Y39Details
Guanidinoacetate N-methyltransferaseQ14353Details
Retinol dehydrogenase 13Q8NBN7Details
Flavin reductase (NADPH)P30043Details
Myeloid cell surface antigen CD33P20138Details
Creatine kinase M-typeP06732Details
Urokinase plasminogen activator surface receptorQ03405Details
Glyceraldehyde-3-phosphate dehydrogenase, testis-specificO14556Details
Ryanodine receptor 1P21817Details
ATPase ASNA1O43681Details
Thromboxane A2 receptorP21731Details
Perilipin-3O60664Details
DNA (cytosine-5)-methyltransferase 1P26358Details
Cartilage oligomeric matrix proteinP49747Details
MyeloblastinP24158Details
fMet-Leu-Phe receptorP21462Details
Kallikrein-1P06870Details
cAMP-specific 3',5'-cyclic phosphodiesterase 4AP27815Details
Phospholipid hydroperoxide glutathione peroxidase, mitochondrialP36969Details
Deoxyhypusine synthaseP49366Details
RAC-beta serine/threonine-protein kinaseP31751Details
Glucose-6-phosphate isomeraseP06744Details
Sulfotransferase family cytosolic 2B member 1O00204Details
Kallikrein-6Q92876Details
Oxysterols receptor LXR-betaP55055Details
Galectin-10Q05315Details
Glutaryl-CoA dehydrogenase, mitochondrialQ92947Details
Peroxiredoxin-2P32119Details
CalreticulinP27797Details
Choline transporter-like protein 2Q8IWA5Details
Egl nine homolog 2Q96KS0Details
Excitatory amino acid transporter 4P48664Details
cAMP-specific 3',5'-cyclic phosphodiesterase 4CQ08493Details
Phosphatidylinositol 3-kinase regulatory subunit betaO00459Details
Sphingosine 1-phosphate receptor 5Q9H228Details
Mucin-16Q8WXI7Details
Serine/threonine-protein phosphatase 5P53041Details
Casein kinase I isoform gamma-2P78368Details
Cytochrome P450 2A6P11509Details
Low affinity immunoglobulin epsilon Fc receptorP06734Details
KiSS-1 receptorQ969F8Details
Tyrosine-protein kinase JAK3P52333Details
Cytochrome P450 2B6P20813Details
Receptor-type tyrosine-protein phosphatase SQ13332Details
Sodium channel subunit beta-1Q07699Details
Cytochrome b-c1 complex subunit Rieske, mitochondrialP47985Details
Cytochrome b-c1 complex subunit 10O14957Details
Myosin-14Q7Z406Details
Cytochrome c oxidase subunit 6B1P14854Details
Cytochrome c oxidase subunit 7A1, mitochondrialP24310Details
Platelet-activating factor acetylhydrolase IB subunit gammaQ15102Details
Calpain small subunit 1P04632Details
Carcinoembryonic antigen-related cell adhesion molecule 5P06731Details
Poliovirus receptorP15151Details
Trafficking protein particle complex subunit 6AO75865Details
Epsin-1Q9Y6I3Details
Epididymal sperm-binding protein 1Q96BH3Details
Inositol-3-phosphate synthase 1Q9NPH2Details
Neurocan core proteinO14594Details
Protein arginine N-methyltransferase 1Q99873Details
Aurora kinase CQ9UQB9Details
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2Q9UL51Details
Interferon-inducible GTPase 5Q6NXR0Details
Potassium voltage-gated channel subfamily C member 3Q14003Details
Phylloquinone omega-hydroxylase CYP4F2P78329Details
Cytochrome P450 4F12Q9HCS2Details
Kelch-like ECH-associated protein 1Q14145Details
Protein kinase C gamma typeP05129Details
Cyclic AMP-dependent transcription factor ATF-5Q9Y2D1Details
Sodium/potassium-transporting ATPase subunit alpha-3P13637Details
Fibrillin-3Q75N90Details
Calmodulin-3P0DP25Details
CalcyphosinQ13938Details
Calreticulin-3Q96L12Details
Heterogeneous nuclear ribonucleoprotein LP14866Details
Splicing factor 3A subunit 2Q15428Details
Prostate-specific antigenP07288Details
Pregnancy-specific beta-1-glycoprotein 5Q15238Details
RuvB-like 2Q9Y230Details
Alpha-1B-glycoproteinP04217Details
Amyloid-like protein 1P51693Details
Far upstream element-binding protein 2Q92945Details
60S ribosomal protein L18Q07020Details
40S ribosomal protein S9P46781Details
Small nuclear ribonucleoprotein Sm D2P62316Details
Voltage-dependent calcium channel gamma-8 subunitQ8WXS5Details
Sodium/iodide cotransporterQ92911Details
Tyrosine-protein kinase receptor UFOP30530Details
Dual specificity tyrosine-phosphorylation-regulated kinase 1BQ9Y463Details
Glycogen synthase kinase-3 alphaP49840Details
Mitogen-activated protein kinase kinase kinase kinase 1Q92918Details
Microtubule-associated serine/threonine-protein kinase 1Q9Y2H9Details
Megakaryocyte-associated tyrosine-protein kinaseP42679Details
MAP kinase-interacting serine/threonine-protein kinase 2Q9HBH9Details
Serine/threonine-protein kinase N1Q16512Details
Uncharacterized serine/threonine-protein kinase SBK3P0C264Details
HepcidinP81172Details
Sphingosine kinase 2Q9NRA0Details
Cytochrome P450 4F3Q08477Details
Leukocyte antigen CD37P11049Details
C5a anaphylatoxin chemotactic receptor 1P21730Details
Osteoclast-associated immunoglobulin-like receptorQ8IYS5Details
ELAV-like protein 1Q15717Details
CD70 antigenP32970Details
Free fatty acid receptor 2O15552Details
Free fatty acid receptor 3O14843Details
Interleukin-11P20809Details