Chromosome 14 (human)

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Chromosome 14 (human)
Human male karyotpe high resolution - Chromosome 14 cropped.png
Human chromosome 14 pair after G-banding.
One is from mother, one is from father.
Human male karyotpe high resolution - Chromosome 14.png
Chromosome 14 pair
in human male karyogram.
Features
Length (bp) 107,043,718 bp
(GRCh38)[1]
No. of genes 583 (CCDS)[2]
Type Autosome
Centromere position Acrocentric[3]
(17.2 Mbp[4])
External map viewers
Ensembl Chromosome 14
Entrez Chromosome 14
NCBI Chromosome 14
UCSC Chromosome 14
Full DNA sequences
RefSeq NC_000014 (FASTA)
GenBank CM000676 (FASTA)

Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 107 million base pairs (the building material of DNA) and represents between 3 and 3.5% of the total DNA in cells.

The centromere of chromosome 14 is positioned approximately at position 17.2 Mbp.

Genes[edit]

The following are some of the gene count estimates of human chromosome 14. 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.[5]

When simply saying "number of genes", in most cases, it refers only to "number of protein-coding genes".

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
CCDS 583 - - [2] 2016-09-08
HGNC 593 324 513 [6] 2017-05-12
Ensembl 820 856 518 [7] 2017-03-29
NCBI 621 690 598 [8][9][10] 2017-05-19

The following are some of the genes located on chromosome 14:

Diseases and disorders[edit]

The following diseases are some of those related to genes on chromosome 14:

Cytogenetic band[edit]

G-banding ideograms of human chromosome 14
G-banding ideogram of human chromosome 14 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 14 in three different resolutions (400,[12] 550[13] and 850[4]). Band length in this diagram is based on the ideograms from ISCN (2013).[14] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[15]
G-bands of human chromosome 14 in resolution 850 bphs[16]
Chr. Arm[17] Band[18] ISCN
start[19]
ISCN
stop[19]
Basepair
start
Basepair
stop
Stain[20] Density
14 p 13 0 284 1 3,600,000 gvar
14 p 12 284 624 3,600,001 8,000,000 stalk
14 p 11.2 624 1249 8,000,001 16,100,000 gvar
14 p 11.1 1249 1433 16,100,001 17,200,000 acen
14 q 11.1 1433 1660 17,200,001 18,200,000 acen
14 q 11.2 1660 2043 18,200,001 24,100,000 gneg
14 q 12 2043 2313 24,100,001 32,900,000 gpos 100
14 q 13.1 2313 2469 32,900,001 34,800,000 gneg
14 q 13.2 2469 2582 34,800,001 36,100,000 gpos 50
14 q 13.3 2582 2724 36,100,001 37,400,000 gneg
14 q 21.1 2724 2923 37,400,001 43,000,000 gpos 100
14 q 21.2 2923 3008 43,000,001 46,700,000 gneg
14 q 21.3 3008 3264 46,700,001 50,400,000 gpos 100
14 q 22.1 3264 3491 50,400,001 53,600,000 gneg
14 q 22.2 3491 3604 53,600,001 55,000,000 gpos 25
14 q 22.3 3604 3718 55,000,001 57,600,000 gneg
14 q 23.1 3718 3916 57,600,001 61,600,000 gpos 75
14 q 23.2 3916 4044 61,600,001 64,300,000 gneg
14 q 23.3 4044 4186 64,300,001 67,400,000 gpos 50
14 q 24.1 4186 4484 67,400,001 69,800,000 gneg
14 q 24.2 4484 4626 69,800,001 73,300,000 gpos 50
14 q 24.3 4626 4839 73,300,001 78,800,000 gneg
14 q 31.1 4839 5051 78,800,001 83,100,000 gpos 100
14 q 31.2 5051 5094 83,100,001 84,400,000 gneg
14 q 31.3 5094 5349 84,400,001 89,300,000 gpos 100
14 q 32.11 5349 5406 89,300,001 91,400,000 gneg
14 q 32.12 5406 5505 91,400,001 94,200,000 gpos 25
14 q 32.13 5505 5619 94,200,001 95,800,000 gneg
14 q 32.2 5619 5732 95,800,001 100,900,000 gpos 50
14 q 32.31 5732 5903 100,900,001 102,700,000 gneg
14 q 32.32 5903 6016 102,700,001 103,500,000 gpos 50
14 q 32.33 6016 6300 103,500,001 107,043,718 gneg

References[edit]

  1. ^ "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for Biotechnology Information. 2013-12-24. Retrieved 2017-03-04. 
  2. ^ a b "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. CCDS Release 20 for Homo sapiens. 2016-09-08. Retrieved 2017-05-28. 
  3. ^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2. 
  4. ^ a b Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  5. ^ Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes.". Genome Biol. 11 (5): 206. PMC 2898077Freely accessible. PMID 20441615. doi:10.1186/gb-2010-11-5-206. 
  6. ^ "Statistics & Downloads for chromosome 14". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19. 
  7. ^ "Chromosome 14: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. 
  8. ^ "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20. 
  9. ^ "Search results - 14[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". NCBI. 2017-05-19. Retrieved 2017-05-20. 
  10. ^ "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20. 
  11. ^ Quiat D, Voelker KA, Pei J, Grishin NV, Grange RW, Bassel-Duby R, Olson EN (June 2011). "Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6". Proc. Natl. Acad. Sci. U.S.A. 108 (25): 10196–201. PMC 3121857Freely accessible. PMID 21633012. doi:10.1073/pnas.1107413108. 
  12. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
  13. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
  14. ^ 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. 
  15. ^ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images" (PDF). In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965. 
  16. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  17. ^ "p": Short arm; "q": Long arm.
  18. ^ For cytogenetic banding nomenclature, see article locus.
  19. ^ a b 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.
  20. ^ 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.
  • Campo E (2003). "Genetic and molecular genetic studies in the diagnosis of B-cell lymphomas I: mantle cell lymphoma, follicular lymphoma, and Burkitt's lymphoma". Hum Pathol. 34 (4): 330–5. PMID 12733111. doi:10.1053/hupa.2003.97. 
  • Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 14". Genet Test. 3 (4): 379–91. PMID 10627948. 
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  • Kamnasaran D, Cox DW (2002). "Current status of human chromosome 14". J Med Genet. 39 (2): 81–90. PMC 1735028Freely accessible. PMID 11836355. doi:10.1136/jmg.39.2.81. 
  • Lemire EG, Cardwell S (1999). "Unusual phenotype in partial trisomy 14". Am J Med Genet. 87 (4): 294–6. PMID 10588832. doi:10.1002/(SICI)1096-8628(19991203)87:4<294::AID-AJMG2>3.0.CO;2-S. 
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External links[edit]

  • National Institutes of Health. "Chromosome 14". Genetics Home Reference. Retrieved 2017-05-06. 
  • "Chromosome 14". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.