Chromosome 5 (human)

Chromosome 5 (human)
Chromosome 5.svg

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. Chromosome 5 is one of the largest human chromosomes, yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of non-coding and syntenic conservation with non-mammalian vertebrates, suggesting they are functionally constrained.[1]

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 5 likely contains between 900 and 1,300 genes.

Contents

Genes

The following are some of the genes located on chromosome 5:

  • ADAMTS2: ADAM metallopeptidase with thrombospondin type 1 motif, 2
  • APC: adenomatosis polyposis coli
  • EGR1: early growth response protein 1
  • DTDST: diastrophic dysplasia sulfate transporter
  • ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
  • FGFR4: fibroblast growth factor receptor 4
  • GM2A: GM2 ganglioside activator
  • HEXB: hexosaminidase B (beta polypeptide)
  • MASS1: monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
  • MCCC2: methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
  • MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • NIPBL: Nipped-B homolog (Drosophila)
  • NSD1: Transcription coregulator protein
  • Pikachurin: Responsible for the functioning of the ribbon synapses; allows the eye to track moving objects
  • SLC22A5: solute carrier family 22 (organic cation transporter), member 5
  • SLC26A2: solute carrier family 26 (sulfate transporter), member 2
  • SMN1: survival motor neuron 1, telomeric
  • SMN2: survival motor neuron 2, centromeric
  • SNCAIP: synuclein, alpha interacting protein (synphilin)
  • SPINK5: serine protease inhibitor Kazal-type 5 (LEKTI)
  • SPINK6: serine protease inhibitor Kazal-type 6
  • SPINK9: serine protease inhibitor Kazal-type 9 (LEKTI-2)
  • TCOF1: Treacher Collins-Franceschetti syndrome 1
  • TGFBI: keratoepithelin
  • TTC37: Tetratricopeptide repeat domain 37
  • FGF1: fibroblast growth factor 1 (acidic fibroblast growth factor)

Diseases & disorders

The following are some of the diseases related to genes located on chromosome 5:

Chromosomal conditions

The following conditions are caused by changes in the structure or number of copies of chromosome 5:

  • Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes in this region. Researchers have not identified all of these genes or determined how their loss leads to the features of the disorder. They have discovered, however, that a larger deletion tends to result in more severe mental retardation and developmental delays in people with cri-du-chat syndrome.
Researchers have defined narrow regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat syndrome. A specific region designated 5p15.3 is associated with a cat-like cry, and a nearby region called 5p15.2 is associated with mental retardation, small head size (microcephaly), and distinctive facial features.
  • Familial Adenomatous Polyposis is caused by a deletion of the APC tumor suppressor gene on the long (q) arm of chromosome 5. This chromosomal change results in thousands of colonic polyps which gives the patient a 100% risk of colon cancer if total colectomy is not done.
  • Other changes in the number or structure of chromosome 5 can have a variety of effects, including delayed growth and development, distinctive facial features, birth defects, and other medical problems. Changes to chromosome 5 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 5p or 5q), a missing segment of the long arm of the chromosome in each cell (partial monosomy 5q), and a circular structure called ring chromosome 5. A ring chromosome occurs when both ends of a broken chromosome are reunited.

References


Wikimedia Foundation. 2010.

Игры ⚽ Нужен реферат?

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 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”