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Chromosome 22: Difference between revisions

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final data from CHM13
 
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| image = Human_male_karyotpe_high_resolution_-_Chromosome_22_cropped.png
| caption2 = Chromosome 22 pair<br/>in human male [[karyogram]].
| length_bp = 51,324,926 bp<br/>(CHM13)
| length_bp = 51,324,926 bp<br/>([[GRCh38]])<ref name="National Center for Biotechnology Inform2017">{{cite web | title=Human Genome AssemblGenome Reference Consortium | website=National Center for Biotechnology Information | date=2013-12-24 | url=https://www.ncbi.nlm.nih.gov/grc/human/data?asm=GRCh38 | language=en | access-date=2017-03-04}}</ref>
| genes = 417 ([[Consensus CDS Project|CCDS]])<ref name="CCDS"/>
| type = [[Autosome]]
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In 1999, researchers working on the [[Human Genome Project]] announced they had determined the sequence of base pairs that make up this chromosome. Chromosome 22 was the first human chromosome to be fully sequenced.<ref>{{cite journal |last= Mayor |first= Susan |year= 1999 |title= First human chromosome is sequenced |journal= BMJ |volume= 319 |issue= 7223 |pages= 1453 |publisher= BMJ Group |pmc= 1117192 |doi=10.1136/bmj.319.7223.1453a |pmid=10582915}}</ref>
 
Human chromosomes are numbered by their apparent size in the [[karyotype]], with [[Chromosomechromosome 1]] being the largest and Chromosomechromosome 22 having originally been identified as the smallest. However, genome sequencing has revealed that [[Chromosomechromosome 21]] is actually smaller than Chromosomechromosome 22.
 
==Genes==
=== Number of genes ===
The following are some of the gene count estimates of human chromosome 22. 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 ([[Consensus CDS 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.<ref name="pmid20441615">{{cite journal| author=Pertea M, Salzberg SL| title=Between a chicken and a grape: estimating the number of human genes. | journal=Genome Biol | year= 2010 | volume= 11 | issue= 5 | pages= 206 | pmid=20441615 | doi=10.1186/gb-2010-11-5-206 | pmc=2898077 | doi-access=free }}</ref>
 
{| class="wikitable" style="text-align:right"
|-
! Estimated by
! [[Protein-coding genes]]
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|-
| [[HUGO Gene Nomenclature Committee|HGNC]]|| 424 || 161 || 295
|style="text-align:center"| <ref name="HGNC20190708">{{cite web | title=Statistics & Downloads for chromosome 22 | website=HUGO Gene Nomenclature Committee | url=https://www.genenames.org/cgi-bin/statistics?c=22 | date=2019-07-08 | access-date=2019-08-07 | archive-date=18 August 2017 | archive-url=https://web.archive.org/web/20170818175220/http://www.genenames.org/cgi-bin/statistics?c=22 | url-status=dead }}</ref>
| 2019-07-08
|-
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{{columns-list|
* [[ADM2]]: encoding [[protein]] ADM2
* [[APOBEC3B]]: encoding [[protein]] Probableprobable DNA dC->dU-editing enzyme APOBEC-3B
* [[ARFGAP3]]: encoding [[protein]] ADP-ribosylation factor GTPase-activating protein 3
* [[ASCC2]]: encoding [[protein]] Activatingactivating signal cointegrator 1 complex subunit 2
* [[ATF4]] (22q13) encoding protein cyclic AMP-dependent transcription factor ATF-4
* [[BCR (gene)|BCR]] (22q11) encoding breakpoint cluster region protein
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* [[CBX7 (gene)|CBX7]] (22q13) encoding chromobox protein homolog 7
* [[CDC42EP1]]: CDC42 effector protein 1
* [[CECR1]]: Catcat eye syndrome critical region protein 1
* [[CHEK2]] (22q12)
* [[COMT]]: Catechol-O-methyltransferase
* [[CRELD2]]: Cysteinecysteine-rich with EGF-like domain protein 2
* [[CSDC2]]: Coldcold shock domain-containing protein D2
* [[Casein kinase 1 isoform epsilon|CSNK1E]]: encoding [[enzyme]] Caseincasein kinase I isoform epsilon or CK1ε,
* [[DGCR5]]: encoding a [[long non-coding RNA]]
* [[DGCR6]]: DiGeorge Syndromesyndrome critical region gene 6
* [[EP300]]
* [[Ep300 antisense rna 1|EP300-AS1]]
* [[EWSR1]]
* [[TAFA5]]: Familyfamily with sequence similarity 19 member A5
* [[FAM227a|FAM227A]]: encoding protein FAM227A
* [[FBLN1]]
* [[GTPBP1]]: GTP-binding protein 1
* [[HMGXB4]]: encoding protein HMG-box containing 4
* [[IFT27]]: encoding protein Intraflagellarintraflagellar transport 27
* [[IGL@]]
* [[IGLJ3]] encoding [[protein]] Immunoglobulinimmunoglobulin lambda joining 3
* [[IGLL5]]: encoding protein Immunoglobulinimmunoglobulin lambda like polypeptide 5
* [[KIAA0930]]: encoding uncharacterized protein KIAA0930
* [[LINC00899]] encoding [[protein]] Longlong intergenic non-protein coding RNA 899
* [[MAPK1]]
* [[MAPK12]]
* [[MCAT (gene)|MCAT]]: encoding [[enzyme]] Malonylmalonyl CoA-acyl carrier protein transacylase, mitochondrial
* [[MCM5]]
* [[Macrophage migration inhibitory factor|MIF]]
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* [[MYH9]]
* [[Merlin (protein)|NF2]]
* [[NOL12]]: encoding [[protein]] Nucleolarnucleolar protein 12
* [[PARVB]]
* [[PDGFB]]
* [[PI4KA]]: encoding [[enzyme]] Phosphatidylinositolphosphatidylinositol 4-kinase alpha
* [[PI4KAP2]]: pseudogene phosphatidylinositol 4-kinase alpha pseudogene 2
* [[PISD (gene)|PISD]]: encoding [[enzyme]] Phosphatidylserinephosphatidylserine decarboxylase proenzyme
* [[PNPLA3]]: encoding [[enzyme]] Patatinpatatin-like phospholipase domain-containing protein 3
* [[PRAME]]: encoding [[protein]] Melanomamelanoma antigen preferentially expressed in tumors
* [[RAC2]]
* [[RBX1]]
* [[RNR5]]: encoding RNA, ribosomal 45S cluster 5
* [[RNU12]]: encoding protein RNA, U12 small nuclear
* [[CTA-126B4.3|RRP7A]]: encoding [[protein]] Ribosomalribosomal RNA-processing protein 7 homolog A
* [[RTCB]]: encoding protein RNA 2',3'-cyclic phosphate and 5'-OH ligase
* [[RTL6]]: encoding protein Retrotransposonretrotransposon Gag Like 6
* [[SAMM50]]: encoding [[protein]] Sortingsorting and assembly machinery component 50 homolog
* [[SEPT3]]: encoding [[protein]] Neuronalneuronal-specific septin-3
* [[SEPT5]]
* [[SHFM3P1]]:
* [[SOX10]]
* [[SYNGR1]]: encoding [[protein]] Synaptogyrinsynaptogyrin-1
* [[TBC1D10A]]: encoding [[protein]] TBC1 domain family member 10A
* [[TEF (gene)|TEF]]: encoding [[protein]] Thyrotrophthyrotroph embryonic factor
* [[THAP7]]: encoding [[protein]] THAP domain-containing protein 7
* [[THOC5]]: encoding [[protein]] THO complex subunit 5 homolog
* [[TRMU]]: encoding [[enzyme]] Mitochondrialmitochondrial tRNA-specific 2-thiouridylase 1
* [[TTC28]]: encoding [[protein]] Tetratricopeptidetetratricopeptide repeat domain 28
* [[TTLL1]]: encoding [[enzyme]] Probableprobable tubulin polyglutamylase TTLL1
* [[Ku70|XRCC6]]: encoding [[protein]] Ku70
}}
 
{| class="wikitable"
|! '''Locus''' ||!! '''Gene''' ||!! '''Description''' ||!! '''Condition'''
|-
|{{Locus|22|q|11|.1-q11.2}} || [[IGL@]]||[[Asymmetric crying facies]] (Cayler cardiofacial syndrome) ||
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* [[Cat eye syndrome]]
* [[Chronic myeloid leukemia]]
* [[DiGeorge Syndromesyndrome]]
* [[Desmoplastic small round cell tumor]]
* [[22q11.2 distal deletion syndrome]]
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* [[Neurofibromatosis type 2]]
* [[Opitz G/BBB syndrome]]
* [[Renal Medullarymedullary Carcinomacarcinoma]]
* [[Rubinstein-Taybi syndrome]]
* [[Waardenburg syndrome]]
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* [[22q11.2 distal deletion syndrome]]
* [[22q13 deletion syndrome]]
* Other chromosomal conditions: Other changes in the number or structure of chromosome 22 can have a variety of effects, including intellectual disability, delayed development, physical abnormalities, and other medical problems. These changes include an extra piece of chromosome 22 in each cell ([[partial trisomy]]), a missing segment of the chromosome in each cell (partial monosomy), and a circular structure called ring chromosome 22 that is caused by the breakage and reattachment of both ends of the chromosome.
* [[Cat-eye syndrome]] is a rare disorder most often caused by a chromosomal change called an inverted duplicated 22. A small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated (copied). The extra genetic material causes the characteristic signs and symptoms of cat-eye syndrome, including an eye abnormality called [[ocular iris coloboma]] (a gap or split in the colored part of the eye), small skin tags or pits in front of the ear, heart defects, kidney problems, and, in some cases, delayed development.
* A rearrangement ([[Chromosomal translocation|translocation]]) of genetic material between chromosomes 9 and 22 is associated with several types of blood cancer ([[leukemia]]). This chromosomal abnormality, which is commonly called the [[Philadelphia chromosome]], is found only in cancer cells. The Philadelphia chromosome has been identified in most cases of a slowly progressing form of blood cancer called [[chronic myeloid leukemia]], or CML. It also has been found in some cases of more rapidly progressing blood cancers (acute leukemias). The presence of the Philadelphia chromosome can help predict how the cancer will progress and provides a target for molecular therapies.
* [[Emanuel Syndromesyndrome]] is a translocation of chromosomes 11 and 22. Originally known as Supernumerarysupernumerary der (22) Syndromesyndrome, it occurs when an individual has an extra chromosome composed of pieces of the 11th and 22nd chromosomes.
 
==Cytogenetic band==
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| width2 = 1003
| height2= 2801
| caption2 = G-banding patterns of human chromosome 22 in three different resolutions (400,<ref name="400bphs">Genome Decoration Page, NCBI. [http://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_400_V1 Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3)]. Last update 2014-03-04. Retrieved 2017-04-26.</ref> 550<ref name="550bphs">Genome Decoration Page, NCBI. [http://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_550_V1 Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3)]. Last update 2015-08-11. Retrieved 2017-04-26.</ref> and 850<ref name="850bphs">Genome Decoration Page, NCBI. [http://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.</ref>). Band length in this diagram is based on the ideograms from ISCN (2013).<ref name="Nomenclature2013">{{cite book|author=International Standing Committee on Human Cytogenetic Nomenclature|title=ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013)|url=https://books.google.com/books?id=lGCLrh0DIwEC|year=2013|publisher=Karger Medical and Scientific Publishers|isbn=978-3-318-02253-7}}</ref> This type of ideogram represents actual relative band length observed under a microscope at the different moments during the [[Mitosis|mitotic process]].<ref name="SethakulvichaiManitpornsut2012">{{cite journalbook|last1=Sethakulvichai|first1=W.|last2=Manitpornsut|first2=S.|last3=Wiboonrat|first3=M.|last4=Lilakiatsakun|first4=W.|last5=Assawamakin|first5=A.|last6=Tongsima|first6=S.|title=2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE) |chapter=Estimation of band level resolutions of human chromosome images |year=2012|pages=276–282|journal=In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on|doi=10.1109/JCSSE.2012.6261965|isbn=978-1-4673-1921-8|s2cid=16666470|chapter-url=https://www.researchgate.net/publication/261304470}}</ref>
}}
{| class="wikitable" style="text-align:right"
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