Chromosome 1 (human)

From Wikipedia, the free encyclopedia

Chromosome 1 is, by convention, 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 246 million nucleotide base pairs (exactly 245,522,847), which are the basic units of information for DNA. 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 contains 3,141 genes, far exceeding previous predictions of its size. It was finally 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.

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

[edit] 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
• 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

[edit] References

• 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