Chromosome 1 (human)
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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 autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 247 million nucleotide base pairs, which are the basic units of information for DNA.¹ It represents about 8% of the total DNA in human cells.

Identifying genes on each chromosome is an active area of genetic research. Chromosome 1 is currently believed to have 4,220 genes, exceeding previous predictions based on its size.¹ It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project.

The number of single nucleotide polymorphisms (SNPs) is about 740,000.^{citation needed}

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: a brain size determinant
• COL11A1: collagen, type XI, alpha 1
• CPT2: carnitine palmitoyltransferase II
• DBT: dihydrolipoamide branched chain transacylase E2
• DIRAS3: DIRAS family, GTP-binding RAS-like 3
• ESPN: espin (autosomal recessive deafness 36)
• F5: coagulation factor V (proaccelerin, labile factor)
• FMO3: flavin containing monooxygenase 3
• GALE: UDP-galactose-4-epimerase
• 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: 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
• TNNT2: cardiac troponin T2
• 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 diseases (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
• Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death
• 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

Revera M et al. Long-term follow-up of R403WMHY7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression. Cardiovasc J Afr. 2007 May-Jun; 18(3):146-53.

External links

• National Institutes of Health. "Chromosome 1". Genetics Home Reference. Retrieved on May 17, 2006.
• Murphy WJ, Fronicke L, O'Brien SJ, Stanyon R (2003). "The origin of human chromosome 1 and its homologs in placental mammals". Genome Res 13 (8): 1880–8. PMID 12869576. 
• Schutte BC, Carpten JD, Forus A, Gregory SG, Horii A, White PS (2001). "Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000". Cytogenet Cell Genet 92 (1-2): 23–41. PMID 11306795. 
• Reuters Wed May 17, 2006
• Final genome 'chapter' published BBC NEWS