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Map of Chromosome 1
Map of Chromosome 1

Chromosome 1 is the designation for the largest human chromosome. Humans 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.[2]

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]



The following are some of the genes located on chromosome 1:



Short and long arms
  • ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
  • 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)
  • GALE: UDP-galactose-4-epimerase
  • GJB3: gap junction protein, beta 3, 31kDa (connexin 31)
  • HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
  • KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4
  • KIF1B: kinesin family member 1B
  • MFN2: mitofusin 2
  • MTHFR: 5,10-methylenetetrahydrofolate reductase (NADPH)
  • MUTYH: mutY homolog (E. coli)
  • NGF: Nerve Growth Factor
  • PARK7: Parkinson disease (autosomal recessive, early onset) 7
  • PINK1: PTEN induced putative kinase 1
  • PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
  • TSHB: thyroid stimulating hormone, beta
  • UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda)


According to the Chromosome 1 contains 263 million base pairs

Diseases & disorders

There are 890 known diseases related to this chromosome. Some of these diseases are deafness, Alzheimer disease, glaucoma and breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):


  1. ^ a b Chromosome size and number of genes derived from this database, retrieved May 31, 2008.
  2. ^ Gregory SG, Barlow KF, McLay KE, et al. (May 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414. 

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.

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