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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.
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Genes
The following are some of the genes located on chromosome 1:
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)
F5: coagulation factor V (proaccelerin, labile factor)
FMO3: flavin containing monooxygenase 3
GALE: UDP-galactose-4-epimerase
GJB3: gap junction protein, beta 3, 31kDa (connexin 31)
HFE2: hemochromatosis type 2 (juvenile)
HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4
KIF1B: kinesin family member 1B
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)
TSHB: thyroid stimulating hormone, beta
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Diseases
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):
Deafness, autosomal recessive deafness 36
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