Everything about Chromosome 1 Human totally explained
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. 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.
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.
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
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 porphyriaFurther Information
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