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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.
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.
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
- 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)
- SLC22A5: solute carrier family 22 (organic cation transporter), member 5
- SLC26A2: solute carrier family 26 (sulfate transporter), member 2
- SMN1: survival of motor neuron 1, telomeric
- SMN2: survival of motor neuron 2, centromeric
- SNCAIP: synuclein, alpha interacting protein (synphilin)
- TCOF1: Treacher Collins-Franceschetti syndrome 1
- FGF1: fibroblast growth factor 1 (acidic fibroblast growth factor)
The following are some of the diseases related to genes located on chromosome 5:
- Achondrogenesis type 1B
- Atelosteogenesis, type II
- Cockayne syndrome
- Cornelia de Lange syndrome
- Diastrophic dysplasia
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, dermatosparaxis type
- Familial adenomatous polyposis
- GM2-gangliosidosis, AB variant
- 3-Methylcrotonyl-CoA carboxylase deficiency
- Parkinson's disease
- Primary carnitine deficiency
- Recessive multiple epiphyseal dysplasia
- Sandhoff disease
- Spinal muscular atrophy
- Treacher Collins syndrome
- Usher syndrome
- Usher syndrome type II
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 15p15.3 is associated with a cat-like cry, and a nearby region called 15p15.2 is associated with mental retardation, small head size (microcephaly), and distinctive facial features.
- 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.
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