Chromosome 5 is one of the 23 pairs of
chromosome
A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins ar ...
s in
human
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, cultu ...
s. People normally have two copies of this chromosome. Chromosome 5 spans about 181 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 D ...
s (the building blocks of
DNA) and represents almost 6% of the total DNA in
cells
Cell most often refers to:
* Cell (biology), the functional basic unit of life
Cell may also refer to:
Locations
* Monastic cell, a small room, hut, or cave in which a religious recluse lives, alternatively the small precursor of a monastery w ...
. 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
Non-coding DNA (ncDNA) sequences are components of an organism's DNA that do not encode protein sequences. Some non-coding DNA is transcribed into functional non-coding RNA molecules (e.g. transfer RNA, microRNA, piRNA, ribosomal RNA, and regul ...
and
syntenic conservation with non-mammalian
vertebrate
Vertebrates () comprise all animal taxa within the subphylum Vertebrata () ( chordates with backbones), including all mammals, birds, reptiles, amphibians, and fish. Vertebrates represent the overwhelming majority of the phylum Chordata, with ...
s, suggesting they are functionally constrained.
Because chromosome 5 is responsible for many forms of growth and development (
cell division
Cell division is the process by which a parent cell divides into two daughter cells. Cell division usually occurs as part of a larger cell cycle in which the cell grows and replicates its chromosome(s) before dividing. In eukaryotes, there ...
s) changes may cause
cancer
Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body. These contrast with benign tumors, which do not spread. Possible signs and symptoms include a lump, abnormal b ...
s. One example would be
acute myeloid leukemia
Acute myeloid leukemia (AML) is a cancer of the myeloid line of blood cells, characterized by the rapid growth of abnormal cells that build up in the bone marrow and blood and interfere with normal blood cell production. Symptoms may inclu ...
(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
In computational biology, gene prediction or gene finding refers to the process of identifying the regions of genomic DNA that encode genes. This includes protein-coding genes as well as RNA genes, but may also include prediction of other functio ...
). 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:
*
Achondrogenesis type 1B
*
Atelosteogenesis, type II
*
Bosch-Boonstra-Schaaf optic atrophy syndrome
*
Charcot–Marie–Tooth disease, type 4
*
Cockayne syndrome
Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight ( photo ...
*
Cornelia de Lange syndrome
Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with this syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. The syndrome has a widely varied phenotype, meaning people with the sy ...
*
Corneal dystrophy of Bowman layer
*
Cri du chat
Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Its name is a French term ("cat-cry" or " call of the cat") referring to the characteristic cat-like cry of affected children. It was first de ...
*
Diastrophic dysplasia
*
Ehlers-Danlos syndrome
*
Familial adenomatous polyposis
Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon ...
*
Granular corneal dystrophy type I
*
Granular corneal dystrophy type II
Granular corneal dystrophy is a slowly progressive corneal dystrophy that most often begins in early childhood.
Granular corneal dystrophy has two types:
* Granular corneal dystrophy type I, also corneal dystrophy Groenouw type I, is a rare fo ...
*
GM2-gangliosidosis, AB variant
*
Homocystinuria
Homocystinuria or HCU is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited autosomal recessive trait, which means a child needs to i ...
*
3-Methylcrotonyl-CoA carboxylase deficiency
*
Myelodysplastic syndrome
*
Netherton syndrome
*
Nicotine dependency
*
Parkinson's disease
Parkinson's disease (PD), or simply Parkinson's, is a long-term degenerative disorder of the central nervous system that mainly affects the motor system. The symptoms usually emerge slowly, and as the disease worsens, non-motor symptoms beco ...
*
*
Recessive multiple epiphyseal dysplasia
*
Sandhoff disease
Sandhoff disease is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, ...
*
Spinal muscular atrophy
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genet ...
*
Sotos Syndrome
*
Survival motor neuron spinal muscular atrophy
*
Treacher Collins syndrome
*
Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely rare congenital bowel disorder which manifests itself as intractable diarrhea in infants with intrauterine growth retardation, hair and facial ab ...
*
Usher syndrome
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
Microcephaly (from New Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it ...
(microcephaly), and distinctive facial features.
*
Familial Adenomatous Polyposis
Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon ...
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.
*
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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