Short description: Human chromosome
Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 spans about 182 million base pairs (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 vertebrates, suggesting they are functionally constrained.[4]
Because chromosome 5 is responsible for many forms of growth and development (cell divisions) changes may cause cancers. One example would be acute myeloid leukemia (AML).[5]
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.[6]
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:
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.[13][14][15]
- 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.
- 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.
- 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
G-banding ideogram of human chromosome 5 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g. Ensembl,
UCSC Genome Browser).
G-banding patterns of human chromosome 5 in three different resolutions (400,
[16] 550
[17] and 850
[3]). Band length in this diagram is based on the ideograms from ISCN (2013).
[18] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the
mitotic process.
[19]
G-bands of human chromosome 5 in resolution 850 bphs[20]
Chr.
|
Arm[21]
|
Band[22]
|
ISCN start[23]
|
ISCN stop[23]
|
Basepair start
|
Basepair stop
|
Stain[24]
|
Density
|
5 |
p
|
15.33 |
0 |
278 |
1 |
4,400,000
|
gneg |
|
5 |
p
|
15.32 |
278 |
401 |
4,400,001 |
6,300,000
|
gpos |
25
|
5 |
p
|
15.31 |
401 |
555 |
6,300,001 |
9,900,000
|
gneg |
|
5 |
p
|
15.2 |
555 |
802 |
9,900,001 |
15,000,000
|
gpos |
50
|
5 |
p
|
15.1 |
802 |
972 |
15,000,001 |
18,400,000
|
gneg |
|
5 |
p
|
14.3 |
972 |
1234 |
18,400,001 |
23,300,000
|
gpos |
100
|
5 |
p
|
14.2 |
1234 |
1281 |
23,300,001 |
24,600,000
|
gneg |
|
5 |
p
|
14.1 |
1281 |
1543 |
24,600,001 |
28,900,000
|
gpos |
100
|
5 |
p
|
13.3 |
1543 |
1836 |
28,900,001 |
33,800,000
|
gneg |
|
5 |
p
|
13.2 |
1836 |
2068 |
33,800,001 |
38,400,000
|
gpos |
25
|
5 |
p
|
13.1 |
2068 |
2253 |
38,400,001 |
42,500,000
|
gneg |
|
5 |
p
|
12 |
2253 |
2407 |
42,500,001 |
46,100,000
|
gpos |
50
|
5 |
p
|
11 |
2407 |
2592 |
46,100,001 |
48,800,000
|
acen |
|
5 |
q
|
11.1 |
2592 |
2839 |
48,800,001 |
51,400,000
|
acen |
|
5 |
q
|
11.2 |
2839 |
3271 |
51,400,001 |
59,600,000
|
gneg |
|
5 |
q
|
12.1 |
3271 |
3518 |
59,600,001 |
63,600,000
|
gpos |
75
|
5 |
q
|
12.2 |
3518 |
3580 |
63,600,001 |
63,900,000
|
gneg |
|
5 |
q
|
12.3 |
3580 |
3765 |
63,900,001 |
67,400,000
|
gpos |
75
|
5 |
q
|
13.1 |
3765 |
4012 |
67,400,001 |
69,100,000
|
gneg |
|
5 |
q
|
13.2 |
4012 |
4197 |
69,100,001 |
74,000,000
|
gpos |
50
|
5 |
q
|
13.3 |
4197 |
4397 |
74,000,001 |
77,600,000
|
gneg |
|
5 |
q
|
14.1 |
4397 |
4752 |
77,600,001 |
82,100,000
|
gpos |
50
|
5 |
q
|
14.2 |
4752 |
4907 |
82,100,001 |
83,500,000
|
gneg |
|
5 |
q
|
14.3 |
4907 |
5400 |
83,500,001 |
93,000,000
|
gpos |
100
|
5 |
q
|
15 |
5400 |
5678 |
93,000,001 |
98,900,000
|
gneg |
|
5 |
q
|
21.1 |
5678 |
5879 |
98,900,001 |
103,400,000
|
gpos |
100
|
5 |
q
|
21.2 |
5879 |
5987 |
103,400,001 |
105,100,000
|
gneg |
|
5 |
q
|
21.3 |
5987 |
6295 |
105,100,001 |
110,200,000
|
gpos |
100
|
5 |
q
|
22.1 |
6295 |
6419 |
110,200,001 |
112,200,000
|
gneg |
|
5 |
q
|
22.2 |
6419 |
6527 |
112,200,001 |
113,800,000
|
gpos |
50
|
5 |
q
|
22.3 |
6527 |
6666 |
113,800,001 |
115,900,000
|
gneg |
|
5 |
q
|
23.1 |
6666 |
6943 |
115,900,001 |
122,100,000
|
gpos |
100
|
5 |
q
|
23.2 |
6943 |
7267 |
122,100,001 |
127,900,000
|
gneg |
|
5 |
q
|
23.3 |
7267 |
7468 |
127,900,001 |
131,200,000
|
gpos |
100
|
5 |
q
|
31.1 |
7468 |
7807 |
131,200,001 |
136,900,000
|
gneg |
|
5 |
q
|
31.2 |
7807 |
8008 |
136,900,001 |
140,100,000
|
gpos |
25
|
5 |
q
|
31.3 |
8008 |
8316 |
140,100,001 |
145,100,000
|
gneg |
|
5 |
q
|
32 |
8316 |
8625 |
145,100,001 |
150,400,000
|
gpos |
75
|
5 |
q
|
33.1 |
8625 |
8887 |
150,400,001 |
153,300,000
|
gneg |
|
5 |
q
|
33.2 |
8887 |
9072 |
153,300,001 |
156,300,000
|
gpos |
50
|
5 |
q
|
33.3 |
9072 |
9304 |
156,300,001 |
160,500,000
|
gneg |
|
5 |
q
|
34 |
9304 |
9690 |
160,500,001 |
169,000,000
|
gpos |
100
|
5 |
q
|
35.1 |
9690 |
9952 |
169,000,001 |
173,300,000
|
gneg |
|
5 |
q
|
35.2 |
9952 |
10183 |
173,300,001 |
177,100,000
|
gpos |
25
|
5 |
q
|
35.3 |
10183 |
10600 |
177,100,001 |
181,538,259
|
gneg |
|
References
- ↑ 1.0 1.1 "Search results - 5[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". 2016-09-08. https://www.ncbi.nlm.nih.gov/gene?term=5%5BChr%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22has%20ccds%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch.
- ↑ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2. https://books.google.com/books?id=dSwWBAAAQBAJ&pg=PA45.
- ↑ 3.0 3.1 Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
- ↑ "Home - Homo sapiens". http://genome.jgi-psf.org/chr5/chr5.home.html.
- ↑ "Chromosome 5". Genetics Home Reference. Lister Hill National Center for Biomedical Communications. U.S. National Library of Medicine. December 2014. http://ghr.nlm.nih.gov/chromosome/5.
- ↑ Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes.". Genome Biol 11 (5): 206. doi:10.1186/gb-2010-11-5-206. PMID 20441615.
- ↑ "Statistics & Downloads for chromosome 5". 2017-05-12. https://www.genenames.org/cgi-bin/statistics?c=5.
- ↑ "Chromosome 5: Chromosome summary - Homo sapiens". 2017-03-29. http://mar2017.archive.ensembl.org/Homo_sapiens/Location/Chromosome?r=5.
- ↑ "Human chromosome 5: entries, gene names and cross-references to MIM". 2018-02-28. https://www.uniprot.org/docs/humchr05.txt.
- ↑ "Search results - 5[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". 2017-05-19. https://www.ncbi.nlm.nih.gov/gene?term=5%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch.
- ↑ "Search results - 5[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene". 2017-05-19. https://www.ncbi.nlm.nih.gov/gene?term=5%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%28%22genetype%20miscrna%22%5BProperties%5D%20OR%20%22genetype%20ncrna%22%5BProperties%5D%20OR%20%22genetype%20rrna%22%5BProperties%5D%20OR%20%22genetype%20trna%22%5BProperties%5D%20OR%20%22genetype%20scrna%22%5BProperties%5D%20OR%20%22genetype%20snrna%22%5BProperties%5D%20OR%20%22genetype%20snorna%22%5BProperties%5D%29%20NOT%20%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch.
- ↑ "Search results - 5[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". 2017-05-19. https://www.ncbi.nlm.nih.gov/gene?term=5%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20pseudo%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch.
- ↑
Cornish K, Bramble D; Bramble (2002). "Cri du chat syndrome: genotype–phenotype correlations and recommendations for clinical management". Dev Med Child Neurol 44 (7): 494–7. doi:10.1017/S0012162201002419. PMID 12162388.
- ↑ "Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR". Eur J Hum Genet 13 (4): 475–85. 2005. doi:10.1038/sj.ejhg.5201345. PMID 15657623.
- ↑ "High-resolution mapping of genotype–phenotype relationships in cri du chat syndrome using array comparative genomic hybridization". Am J Hum Genet 76 (2): 312–26. 2005. doi:10.1086/427762. PMID 15635506.
- ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
- ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
- ↑ International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7. https://books.google.com/books?id=lGCLrh0DIwEC.
- ↑ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images". 2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE). pp. 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8. https://www.researchgate.net/publication/261304470.
- ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
- ↑ "p": Short arm; "q": Long arm.
- ↑ For cytogenetic banding nomenclature, see article locus.
- ↑ 23.0 23.1 These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.
- ↑ gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.
Further reading
External links
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Basic concepts | |
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Types | |
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Processes and evolution | |
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Structures |
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See also | |
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| Original source: https://en.wikipedia.org/wiki/Chromosome 5. Read more |