Chromosome 1 (human) 3398635 224740532 2008-07-10T05:43:02Z Adrian J. Hunter 2039422 revert x2 (vandalism) [[Image:Chromosome 1.svg|125px|right]] '''Chromosome 1''' is the designation for the largest [[human]] [[chromosome]]. People normally have two copies of chromosome 1, as they do with all of the [[autosome]]s, which are the non-[[sex chromosome]]s. Chromosome 1 spans about 247 million [[nucleotide]] [[base pair]]s, which are the basic units of information for [[DNA]].<ref name=vega>http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved May 31 2008.</ref> It represents about 8% of the total DNA in human cells. Identifying [[gene]]s on each chromosome is an active area of [[genetics|genetic research]]. Chromosome 1 is currently believed to have 4,220 genes, exceeding previous predictions based on its size.<ref name=vega /> It was the last completed chromosome, sequenced two decades after the beginning of the [[Human Genome Project]]. The number of variations of nucleotides (SNP or [[single nucleotide polymorphism]]) is about 740,000.{{Fact|date=July 2007}} ==Genes== The following are some of the genes located on chromosome 1: * [[ACADM]]: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain * [[ASPM (Genetics)|ASPM]]: a brain size determinant * [[COL11A1]]: collagen, type XI, alpha 1 * [[CPT2 (gene)|CPT2]]: carnitine palmitoyltransferase II * [[DBT (gene)|DBT]]: dihydrolipoamide branched chain transacylase E2 * [[DIRAS3]]: DIRAS family, GTP-binding RAS-like 3 * [[ESPN (gene)|ESPN]]: espin (autosomal recessive deafness 36) * [[F5 (gene)|F5]]: coagulation factor V (proaccelerin, labile factor) * [[FMO3]]: flavin containing monooxygenase 3 * [[GALE]]: UDP-galactose-4-epimerase * [[GBA (gene)|GBA]]: glucosidase, beta; acid (includes glucosylceramidase) (gene for [[Gaucher disease]]) * [[GJB3]]: gap junction protein, beta 3, 31kDa (connexin 31) * [[GLC1A]]: gene for [[glaucoma]] * [[HFE2]]: hemochromatosis type 2 (juvenile) * [[HMGCL]]: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria) * [[HPC1]]: gene for [[prostate cancer]] * [[IRF6]]: gene for [[connective tissue]] formation * [[KCNQ4]]: potassium voltage-gated channel, KQT-like subfamily, member 4 * [[KIF1B]]: kinesin family member 1B * [[LMNA]]: lamin A/C * [[MFN2]]: mitofusin 2 * [[MPZ]]: myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) * [[MTHFR]]: 5,10-methylenetetrahydrofolate reductase (NADPH) * [[MTR (gene)|MTR]]: 5-methyltetrahydrofolate-homocysteine methyltransferase * [[MUTYH]]: mutY homolog (E. coli) * [[PARK7]]: Parkinson disease (autosomal recessive, early onset) 7 * [[PINK1]]: PTEN induced putative kinase 1 * [[PLOD1]]: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 * [[PPOX]]: protoporphyrinogen oxidase * [[PSEN2]]: presenilin 2 (Alzheimer disease 4) * [[SDHB]]: [[succinate dehydrogenase]] complex subunit B * [[TSHB]]: thyroid stimulating hormone, beta * [[UROD]]: uroporphyrinogen decarboxylase (the gene for [[porphyria cutanea tarda]]) * [[USH2A]]: [[Usher syndrome]] 2A (autosomal recessive, mild) According to http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo01.shtml the Chromosome 1 contains 263 million base pairs ==Diseases & disorders== The following diseases are some of those related to genes on chromosome 1 (which contains the most known [[genetic disease]]s (890 total) of any human chromosome): * [[Alzheimer disease]] * [[Alzheimer disease, type 4]] * [[Breast cancer]] * [[Carnitine palmitoyltransferase II deficiency]] * [[Charcot-Marie-Tooth disease]] * [[Charcot-Marie-Tooth disease, type 1]] * [[Charcot-Marie-Tooth disease, type 2]] * [[collagenopathy, types II and XI]] * [[congenital hypothyroidism]] * [[Deafness]], autosomal recessive deafness 36 * [[Ehlers-Danlos syndrome]] * [[Ehlers-Danlos syndrome, kyphoscoliosis type]] * [[Factor V Leiden thrombophilia]] * [[Familial adenomatous polyposis]] * [[galactosemia]] * [[Gaucher disease]] * [[Gaucher disease type 1]] * [[Gaucher disease type 2]] * [[Gaucher disease type 3]] * [[Gaucher-like disease]] * [[Glaucoma]] * [[Hemochromatosis]] * [[Hemochromatosis, type 2]] * [[Hepatoerythropoietic porphyria]] * [[Homocystinuria]] * [[Hutchinson Gilford Progeria Syndrome]] * [[3-hydroxy-3-methylglutaryl-CoA lyase deficiency]] * [[maple syrup urine disease]] * [[medium-chain acyl-coenzyme A dehydrogenase deficiency]] * [[Microcephaly]] * [[Muckle-Wells Syndrome]] * [[Nonsyndromic deafness]] * [[Nonsyndromic deafness, autosomal dominant]] * [[Nonsyndromic deafness, autosomal recessive]] * [[Parkinson disease]] * [[Pheochromocytoma]] * [[porphyria]] * [[porphyria cutanea tarda]] * [[popliteal pterygium syndrome]] * [[prostate cancer]] * [[Stickler syndrome]] * [[Stickler syndrome, COL11A1]] * [[trimethylaminuria]] * [[Usher syndrome]] * [[Usher syndrome type II]] * [[Van der Woude syndrome]] * [[Variegate porphyria]] == References == {{reflist}} ==External links== * {{cite web | author= National Institutes of Health | title= Chromosome 1 | work= Genetics Home Reference | url= http://ghr.nlm.nih.gov/chromosome=1| accessdate=May 17 | accessyear=2006 }} * {{cite journal | author=Murphy WJ, Fronicke L, O'Brien SJ, Stanyon R | title=The origin of human chromosome 1 and its homologs in placental mammals | journal=Genome Res | year=2003 | pages=1880–8 | volume=13 | issue=8 | pmid=12869576}} * {{cite journal | author=Schutte BC, Carpten JD, Forus A, Gregory SG, Horii A, White PS | title=Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. [[30 September]]-[[3 October]] [[2000]] | journal=Cytogenet Cell Genet | year=2001 | pages=23–41 | volume=92 | issue=1-2 | pmid=11306795}} *[http://today.reuters.com/news/newsArticle.aspx?type=scienceNews&storyID=2006-05-17T175734Z_01_L16646847_RTRUKOC_0_US-SCIENCE-CHROMOSOME.xml&pageNumber=1&imageid=&cap=&sz=13&WTModLoc=NewsArt-C1-ArticlePage1 Reuters Wed May 17, 2006] *[http://news.bbc.co.uk/2/hi/science/nature/4994088.stm Final genome 'chapter' published] BBC NEWS {{Chromosomes}} [[Category:Chromosomes|Chromosome 01]] [[ca:Cromosoma 1]] [[de:Chromosom 1 (Mensch)]] [[es:Cromosoma 1 (humano)]] [[fr:Chromosome 1 humain]] [[it:Cromosoma 1 (umano)]] [[hu:Humán 1-es kromoszóma]] [[no:Kromosom 1]] [[pl:Chromosom 1]] [[pt:Cromossoma 1 (humano)]] [[sr:Хромозом 1 (човек)]] [[tr:Kromozom 1]] [[zh:1號染色體 (人類)]]