Chromosome 5 is one of the 23 pairs of
chromosome
A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most import ...
s in
human
Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing ...
s. People normally have two copies of this chromosome. Chromosome 5 spans about 182 million
base pair
A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA ...
s (the building blocks of
DNA) and represents almost 6% of the total DNA in
cells. Chromosome 5 is the 5th largest human chromosome, 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
vertebrate
Vertebrates () are animals with a vertebral column (backbone or spine), and a cranium, or skull. The vertebral column surrounds and protects the spinal cord, while the cranium protects the brain.
The vertebrates make up the subphylum Vertebra ...
s, suggesting they are functionally constrained.
Because chromosome 5 is responsible for many forms of growth and development (
cell divisions) changes may cause
cancer
Cancer is a group of diseases involving Cell growth#Disorders, abnormal cell growth with the potential to Invasion (cancer), invade or Metastasis, spread to other parts of the body. These contrast with benign tumors, which do not spread. Po ...
s. One example would be
acute myeloid leukemia (AML).
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 5. Because researchers use different approaches to
genome annotation their predictions of the
number of genes on each chromosome varies (for technical details, see
gene prediction). Among various projects, the collaborative consensus coding sequence project (
CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.
[ ]
Gene list
The following is a partial list of genes on human chromosome 5. For complete list, see the link in the infobox on the right.
Diseases and disorders
The following are some of the diseases related to genes located on chromosome 5:
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Attention-deficit/hyperactivity disorder
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Achondrogenesis type 1B
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Atelosteogenesis, type II
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Bipolar disorder
Bipolar disorder (BD), previously known as manic depression, is a mental disorder characterized by periods of Depression (mood), depression and periods of abnormally elevated Mood (psychology), mood that each last from days to weeks, and in ...
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Bosch-Boonstra-Schaaf optic atrophy syndrome
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Charcot–Marie–Tooth disease, type 4
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Cockayne syndrome
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Cornelia de Lange syndrome
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Corneal dystrophy of Bowman layer
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Cri du chat
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Diastrophic dysplasia
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Ehlers-Danlos syndrome
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Familial adenomatous polyposis
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Granular corneal dystrophy type I
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Granular corneal dystrophy type II
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GM2-gangliosidosis, AB variant
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Homocystinuria
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3-Methylcrotonyl-CoA carboxylase deficiency
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Myelodysplastic syndrome
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Netherton syndrome
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Nicotine dependency
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Parkinson's disease
Parkinson's disease (PD), or simply Parkinson's, is a neurodegenerative disease primarily of the central nervous system, affecting both motor system, motor and non-motor systems. Symptoms typically develop gradually and non-motor issues become ...
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Primary carnitine deficiency
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Recessive multiple epiphyseal dysplasia
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Sandhoff disease
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Spinal muscular atrophy
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Sotos Syndrome
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Survival motor neuron spinal muscular atrophy
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Treacher Collins syndrome
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Tricho-hepato-enteric syndrome
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Usher syndrome
Chromosomal conditions
The following conditions are caused by changes in the structure or number of copies of chromosome 5:
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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 (microcephaly), and distinctive facial features.
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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.
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Chromosome 5q deletion syndrome is caused by the deletion of the q arm (long arm) of chromosome 5. This deletion has been linked to several blood related disorders including
Myelodysplastic syndrome and
Erythroblastopenia. This is a different condition than Cri-du-chat which was mentioned above.
* 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.
Cytogenetic band
References
Further reading
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External links
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{{DEFAULTSORT:Chromosome 05 (Human)
Chromosomes (human)
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