Chromosome 1 (human)

Chromosome 1 (human)
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]

Contents

Genes

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

p-arm

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)

q-arm

  • ASPM: a brain size determinant
  • F5: coagulation factor V (proaccelerin, labile factor)
  • FMO3: flavin containing monooxygenase 3
  • GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease)
  • GLC1A: gene for glaucoma
  • HFE2: hemochromatosis type 2 (juvenile)
  • HPC1: gene for prostate cancer
  • IRF6: gene for connective tissue formation
  • LMNA: lamin A/C
  • MPZ: myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
  • MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
  • PPOX: protoporphyrinogen oxidase
  • PSEN2: presenilin 2 (Alzheimer disease 4)
  • SDHB: succinate dehydrogenase complex subunit B
  • TNNT2: cardiac troponin T2
  • 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

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):

References

  1. ^ 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.
  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. 

Further reading

External links


Wikimedia Foundation. 2010.

Игры ⚽ Нужна курсовая?

Look at other dictionaries:

  • Chromosome 2 (human) — Chromosome 2 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second largest human chromosome, spanning more than 237 million base pairs [1] (the building material of DNA)… …   Wikipedia

  • Chromosome 21 (human) — Chromosome 21 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. The trisomy of the 21st chromosome causes Down Syndrome. Chromosome 21 is the smallest human chromosome, 47 million nucleotides… …   Wikipedia

  • Chromosome 15 (human) — Human chromosome 15 Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 15 spans about 106 million base pairs (the building material of DNA) and represents between 3% and 3 …   Wikipedia

  • Chromosome 19 (human) — Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 19 spans more than 63 million base pairs (the building material of DNA) and represents between 2 and 2.5 percent of the… …   Wikipedia

  • Chromosome 8 (human) — Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA… …   Wikipedia

  • Chromosome 11 (human) — Chromosome 11 Chart Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome 11 spans about 134.5 million base pairs (the building material of DNA) and represents between 4 and… …   Wikipedia

  • Chromosome 20 (human) — Chromosome 20 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 20 spans around 63 million base pairs (the building material of DNA) and represents between 2 and 2.5 percent of the… …   Wikipedia

  • Chromosome 5 (human) — Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 181 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells.… …   Wikipedia

  • Chromosome 7 (human) — Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 7 spans more than 158 million base pairs (the building material of DNA) and represents between 5 and 5.5 percent of the… …   Wikipedia

  • Chromosome 14 (human) — Chromosome14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 109 million base pairs (the building material of DNA) and represents between 3 and 3.5% of the total DNA… …   Wikipedia

  • Chromosome 18 (human) — Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 85 million base pairs (the building material of DNA) and represents about 2.5 percent of the total DNA in …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”