Chromosome 1 (human)

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File:Chromosome 1.svg 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 3,148 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 variations of nucleotides (SNP or single nucleotide polymorphism) is about 740,000.


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
  • TSHB: thyroid stimulating hormone, beta
  • UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda)
  • USH2A: Usher syndrome 2A (autosomal recessive, mild)

According to the Chromosome 1 contain 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):


  1. 1.0 1.1 Chromosome size and number of genes derived from this database, retrieved July 7 2007.

External links

  • National Institutes of Health. "Chromosome 1". Genetics Home Reference. Retrieved May 17.  Unknown parameter |accessyear= ignored (|access-date= suggested) (help); Check date values in: |access-date= (help)
  • 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

ca:Cromosoma 1it:Cromosoma 1 (umano) hu:Humán 1-es kromoszóma no:Kromosom 1sr:Хромозом 1 (човек)