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 variations of nucleotides (SNP or single nucleotide polymorphism) is about 740,000.[citation needed]
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[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)
According to http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo01.shtml the Chromosome 1 contains 263 million base pairs
[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
- ^ a b http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved May 31 2008.
[edit] 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
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