Chromosome 1 (human)
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2008-07-10T05:43:02Z
Adrian J. Hunter
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[[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]]
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