Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
Article Details
-
Citation
Copy to clipboard -
Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK
Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
Nature. 2005 Apr 7;434(7034):724-31.
- PubMed ID
-
15815621 [View in PubMed]
- Abstract
-
Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received attention primarily related to the search for the Huntington's disease gene, but also for genes associated with Wolf-Hirschhorn syndrome, polycystic kidney disease and a form of muscular dystrophy. Here we present approximately 237 million base pairs of sequence for chromosome 2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. Our initial analyses have identified 1,346 protein-coding genes and 1,239 pseudogenes on chromosome 2, and 796 protein-coding genes and 778 pseudogenes on chromosome 4. Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions.
beplay体育安全吗DrugBank数据引用了这篇文章
- Polypeptides
-
Name UniProt ID Lipoyltransferase 1, mitochondrial Q9Y234 Details Glycine receptor subunit beta P48167 Details NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial O95299 Details Sodium-dependent multivitamin transporter Q9Y289 Details Methylsterol monooxygenase 1 Q15800 Details Lutropin-choriogonadotropic hormone receptor P22888 Details Sodium channel protein type 1 subunit alpha P35498 Details cGMP-specific 3',5'-cyclic phosphodiesterase O76074 Details Microsomal triglyceride transfer protein large subunit P55157 Details Calcium-binding mitochondrial carrier protein Aralar1 O75746 Details Trifunctional enzyme subunit alpha, mitochondrial P40939 Details Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial P13995 Details NADH脱氢酶(辅酶q) 1β复形subunit 3 O43676 Details S-adenosylmethionine synthase isoform type-2 P31153 Details Serine--pyruvate aminotransferase P21549 Details Secretin receptor P47872 Details Calcineurin subunit B type 1 P63098 Details ALK tyrosine kinase receptor Q9UM73 Details Alcohol dehydrogenase 4 P08319 Details Vascular endothelial growth factor receptor 2 P35968 Details Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial Q16836 Details Glutamate decarboxylase 1 Q99259 Details Vitamin K-dependent protein C P04070 Details Gamma-aminobutyric acid receptor subunit alpha-2 P47869 Details Substance-P receptor P25103 Details Follicle-stimulating hormone receptor P23945 Details Kynureninase Q16719 Details 5-hydroxytryptamine receptor 2B P41595 Details Alcohol dehydrogenase 1B P00325 Details Vitamin K-dependent gamma-carboxylase P38435 Details Ornithine decarboxylase P11926 Details Calmodulin P0DP23 Details Cyclin-dependent kinase 15 Q96Q40 Details Mast/stem cell growth factor receptor Kit P10721 Details Neurotensin receptor type 2 O95665 Details Alcohol dehydrogenase 1C P00326 Details Gamma-aminobutyric acid receptor subunit alpha-4 P48169 Details Neutral amino acid transporter A P43007 Details NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial P28331 Details Endothelin-1 receptor P25101 Details Alcohol dehydrogenase class 4 mu/sigma chain P40394 Details Serum albumin P02768 Details Dihydropteridine reductase P09417 Details 15-hydroxyprostaglandin dehydrogenase [NAD(+)] P15428 Details Phenylalanine--tRNA ligase beta subunit Q9NSD9 Details Interleukin-1 receptor type 1 P14778 Details Alpha-2B adrenergic receptor P18089 Details Malate dehydrogenase, cytoplasmic P40925 Details Integrin alpha-4 P13612 Details Long-chain-fatty-acid--CoA ligase 1 P33121 Details UDP-glucose 6-dehydrogenase O60701 Details Mineralocorticoid receptor P08235 Details High affinity choline transporter 1 Q9GZV3 Details Potassium voltage-gated channel subfamily H member 7 Q9NS40 Details Bile salt export pump O95342 Details Aspartate--tRNA ligase, cytoplasmic P14868 Details Glutamate receptor 2 P42262 Details Platelet-derived growth factor receptor alpha P16234 Details Dipeptidyl peptidase 4 P27487 Details Cytotoxic T-lymphocyte protein 4 P16410 Details Alkaline phosphatase, placental-like P10696 Details Sepiapterin reductase P35270 Details Lithostathine-1-alpha P05451 Details C-X-C chemokine receptor type 4 P61073 Details Low-density lipoprotein receptor-related protein 2 P98164 Details Platelet basic protein P02775 Details Pro-opiomelanocortin P01189 Details Pro-epidermal growth factor P01133 Details Eukaryotic translation initiation factor 4E P06730 Details Thiamine transporter 2 Q9BZV2 Details Tissue factor pathway inhibitor P10646 Details Sodium/calcium exchanger 1 P32418 Details Phospholipid-transporting ATPase IA Q9Y2Q0 Details Fibroblast growth factor 2 P09038 Details Coagulation factor XI P03951 Details G protein-activated inward rectifier potassium channel 1 P48549 Details Interleukin-1 beta P01584 Details Heparanase Q9Y251 Details ATP-binding cassette sub-family G member 2 Q9UNQ0 Details Inactive phospholipase C-like protein 1 Q15111 Details Mitogen-activated protein kinase 10 P53779 Details Microtubule-associated protein 2 P11137 Details Platelet factor 4 P02776 Details Neutral and basic amino acid transport protein rBAT Q07837 Details Vitamin D-binding protein P02774 Details Sodium channel protein type 9 subunit alpha Q15858 Details Fibronectin P02751 Details Transient receptor potential cation channel subfamily M member 8 Q7Z2W7 Details Bifunctional purine biosynthesis protein PURH P31939 Details ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 Q10588 Details Isocitrate dehydrogenase [NADP] cytoplasmic O75874 Details Tyrosine-protein kinase ZAP-70 P43403 Details Tubulin alpha-4A chain P68366 Details Dual specificity protein kinase CLK1 P49759 Details Sodium channel protein type 2 subunit alpha Q99250 Details Sodium channel protein type 3 subunit alpha Q9NY46 Details Multiple coagulation factor deficiency protein 2 Q8NI22 Details Insulin-like growth factor-binding protein 7 Q16270 Details Collagen alpha-1(III) chain P02461 Details Fibroblast growth factor receptor 3 P22607 Details O-phosphoseryl-tRNA(Sec) selenium transferase Q9HD40 Details Multifunctional protein ADE2 P22234 Details Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial O75879 Details Methionine--tRNA ligase, mitochondrial Q96GW9 Details Succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial P53597 Details N-acetyl-D-glucosamine kinase Q9UJ70 Details Glutamate receptor ionotropic, delta-2 O43424 Details Glutamyl aminopeptidase Q07075 Details Aspartyl aminopeptidase Q9ULA0 Details Microsomal glutathione S-transferase 2 Q99735 Details Sphingomyelin phosphodiesterase 4 Q9NXE4 Details All-trans-retinol 13,14-reductase Q6NUM9 Details Lipoyl synthase, mitochondrial O43766 Details Peptidyl-prolyl cis-trans isomerase G Q13427 Details Neuronal acetylcholine receptor subunit alpha-9 Q9UGM1 Details Gamma-aminobutyric acid receptor subunit beta-1 P18505 Details Voltage-dependent L-type calcium channel subunit beta-4 O00305 Details Neuropeptide Y receptor type 2 P49146 Details Histamine N-methyltransferase P50135 Details Plasma kallikrein P03952 Details Epithelial cell adhesion molecule P16422 Details Ribonucleoside-diphosphate reductase subunit M2 P31350 Details Neuropeptide Y receptor type 5 Q15761 Details Uridine phosphorylase 2 O95045 Details Histone-lysine N-methyltransferase SETD7 Q8WTS6 Details C-terminal-binding protein 1 Q13363 Details Peroxisomal trans-2-enoyl-CoA reductase Q9BY49 Details Estradiol 17-beta-dehydrogenase 11 Q8NBQ5 Details Kinesin-like protein KIF1A Q12756 Details Sialidase-2 Q9Y3R4 Details Anthrax toxin receptor 2 P58335 Details ADP-ribosylation factor-like protein 5A Q9Y689 Details Glutaminyl-peptide cyclotransferase Q16769 Details Tubulin alpha-3E chain Q6PEY2 Details Putative tubulin-like protein alpha-4B Q9H853 Details Protein kinase C epsilon type Q02156 Details Centromere-associated protein E Q02224 Details Anthrax toxin receptor 1 Q9H6X2 Details Caspase-8 Q14790 Details Activin receptor type-2A P27037 Details Collagen alpha-4(IV) chain P53420 Details Prolyl endopeptidase FAP Q12884 Details Histone deacetylase 4 P56524 Details UDP-glucuronosyltransferase 1-9 O60656 Details Aldehyde oxidase Q06278 Details UDP-glucuronosyltransferase 1-1 P22309 Details UDP-glucuronosyltransferase 1-4 P22310 Details Alcohol dehydrogenase 6 P28332 Details C-X-C chemokine receptor type 1 P25024 Details Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A Q9HCR9 Details Rho-related GTP-binding protein RhoB P62745 Details Integrin alpha-V P06756 Details Potassium channel subfamily K member 3 O14649 Details Deoxyguanosine kinase, mitochondrial Q16854 Details Fatty acid-binding protein, intestinal P12104 Details DNA polymerase epsilon subunit 4 Q9NR33 Details UDP-glucuronosyltransferase 1-3 P35503 Details UDP-glucuronosyltransferase 1-10 Q9HAW8 Details UDP-glucuronosyltransferase 2B7 P16662 Details UDP-glucuronosyltransferase 2B4 P06133 Details UDP-glucuronosyltransferase 1-8 Q9HAW9 Details Nuclear receptor coactivator 1 Q15788 Details Cyclin-A2 P20248 Details Low molecular weight phosphotyrosine protein phosphatase P24666 Details [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial Q15118 Details Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial Q16134 Details Cytochrome c oxidase subunit 5B, mitochondrial P10606 Details Calcium/calmodulin-dependent protein kinase type II subunit delta Q13557 Details Annexin A5 P08758 Details Rho-associated protein kinase 2 O75116 Details Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform Q08209 Details Actin-related protein 2 P61160 Details Actin-related protein 3 P61158 Details Tyrosine-protein kinase Mer Q12866 Details Alkaline phosphatase, placental type P05187 Details 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial Q6NVY1 Details Lactase-phlorizin hydrolase P09848 Details Immunoglobulin kappa variable 2D-28 P01615 Details U6 snRNA-associated Sm-like protein LSm6 P62312 Details Acyl-CoA-binding protein P07108 Details Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 Q9GZU7 Details Spectrin beta chain, non-erythrocytic 1 Q01082 Details Lactosylceramide alpha-2,3-sialyltransferase Q9UNP4 Details Selenocysteine lyase Q96I15 Details 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase Q9BV57 Details Acetylcholine receptor subunit delta Q07001 Details Acetylcholine receptor subunit gamma P07510 Details Carbamoyl-phosphate synthase [ammonia], mitochondrial P31327 Details Electrogenic sodium bicarbonate cotransporter 1 Q9Y6R1 Details Sodium-driven chloride bicarbonate exchanger Q6U841 Details UDP-glucuronosyltransferase 1-6 P19224 Details UDP-glucuronosyltransferase 1-7 Q9HAW7 Details UDP-glucuronosyltransferase 2B15 P54855 Details Deoxycytidylate deaminase P32321 Details Interleukin-1 alpha P01583 Details Interleukin-1 receptor antagonist protein P18510 Details Mitogen-activated protein kinase kinase kinase 2 Q9Y2U5 Details ATP-binding cassette sub-family G member 5 Q9H222 Details ATP-binding cassette sub-family G member 8 Q9H221 Details Solute carrier family 2, facilitated glucose transporter member 9 Q9NRM0 Details Polyprenol reductase Q9H8P0 Details Sodium channel protein type 7 subunit alpha Q01118 Details Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta P35913 Details Cyclic AMP-dependent transcription factor ATF-2 P15336 Details Tumor necrosis factor-inducible gene 6 protein P98066 Details Sodium-dependent phosphate transporter 1 Q8WUM9 Details Neurexin-1 Q9ULB1 Details cGMP-gated cation channel alpha-1 P29973 Details G-protein coupled receptor 35 Q9HC97 Details Ephrin type-A receptor 5 P54756 Details Mitogen-activated protein kinase kinase kinase MLT Q9NYL2 Details Ubiquitin carboxyl-terminal hydrolase isozyme L1 P09936 Details Sodium-dependent phosphate transport protein 2B O95436 Details Grancalcin P28676 Details Calmodulin-2 P0DP24 Details 60 kDa heat shock protein, mitochondrial P10809 Details Annexin A4 P09525 Details Afamin P43652 Details Huntingtin P42858 Details Macrophage receptor MARCO Q9UEW3 Details Calcitonin gene-related peptide type 1 receptor Q16602 Details Lymphoid enhancer-binding factor 1 Q9UJU2 Details F-box only protein 41 Q8TF61 Details 10 kDa heat shock protein, mitochondrial P61604 Details Cytochrome P450 26B1 Q9NR63 Details Complement factor I P05156 Details Immunoglobulin kappa variable 1-17 P01599 Details KAT8 regulatory NSL complex subunit 3 Q9P2N6 Details Heterogeneous nuclear ribonucleoprotein D0 Q14103 Details Survival motor neuron protein B4DP61 Details Sn1-specific diacylglycerol lipase alpha F5GY58 Details Bone morphogenetic protein receptor type-2 Q13873 Details Alpha-L-iduronidase P35475 Details UDP-glucuronosyltransferase 2B10 P36537 Details Splicing factor 3B subunit 1 O75533 Details Serine/threonine-protein kinase 36 Q9NRP7 Details STE20/SPS1-related proline-alanine-rich protein kinase Q9UEW8 Details Serine/threonine-protein kinase tousled-like 1 Q9UKI8 Details Serine/threonine-protein kinase TNNI3K Q59H18 Details Mitogen-activated protein kinase kinase kinase 19 Q56UN5 Details AP2-associated protein kinase 1 Q2M2I8 Details BMP-2-inducible protein kinase Q9NSY1 Details Bone morphogenetic protein receptor type-1B O00238 Details Serine/threonine-protein kinase DCLK2 Q8N568 Details Interferon-induced, double-stranded RNA-activated protein kinase P19525 Details Ephrin type-A receptor 4 P54764 Details Mitogen-activated protein kinase kinase kinase kinase 4 O95819 Details CLIP-associating protein 1 Q7Z460 Details Serine/threonine-protein kinase Nek1 Q96PY6 Details cGMP-dependent protein kinase 2 Q13237 Details Intestinal-type alkaline phosphatase P09923 Details Interleukin-1 receptor type 2 P27930 Details Insulin-like growth factor-binding protein 2 P18065 Details Ribulose-phosphate 3-epimerase Q96AT9 Details Exportin-1 O14980 Details Sulfotransferase 1C2 O00338 Details Sulfotransferase 1C4 O75897 Details Sulfotransferase 1C3 Q6IMI6 Details Sulfotransferase 6B1 Q6IMI4 Details Potassium voltage-gated channel subfamily G member 3 Q8TAE7 Details Potassium voltage-gated channel subfamily S member 3 Q9BQ31 Details Potassium voltage-gated channel subfamily E member 4 Q8WWG9 Details Potassium voltage-gated channel subfamily F member 1 Q9H3M0 Details Solute carrier family 40 member 1 Q9NP59 Details Cytochrome b reductase 1 Q53TN4 Details DNA (cytosine-5)-methyltransferase 3A Q9Y6K1 Details Zinc transporter ZIP10 Q9ULF5 Details Zinc transporter 9 Q6PML9 Details Zinc transporter 3 Q99726 Details Zinc transporter ZIP8 Q9C0K1 Details Zinc transporter 6 Q6NXT4 Details Apolipoprotein B-100 P04114 Details Diacylglycerol kinase theta P52824 Details V-type proton ATPase subunit E 2 Q96A05 Details V-type proton ATPase subunit C 2 Q8NEY4 Details Guanylate cyclase soluble subunit beta-1 Q02153 Details Neuropilin-2 O60462 Details Integrin beta-6 P18564 Details Guanylate cyclase soluble subunit alpha-1 Q02108 Details Toll-like receptor 6 Q9Y2C9 Details Signal transducer and activator of transcription 1-alpha/beta P42224 Details Vascular endothelial growth factor C P49767 Details Nuclear factor erythroid 2-related factor 2 Q16236 Details 3-oxoacyl-[acyl-carrier-protein] reductase Q8N4T8 Details Bcl-2-like protein 11 O43521 Details Adenylate cyclase type 3 O60266 Details