Content deleted Content added
→Diseases and disorders: Added content Tags: Mobile edit Mobile web edit |
|||
(15 intermediate revisions by 11 users not shown) | |||
Line 1:
{{Short description|
{{Use dmy dates|date=June 2014}} {{Infobox chromosome
| 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)
| genes = 417 ([[Consensus CDS Project|CCDS]])<ref name="CCDS"/>
| type = [[Autosome]]
| centromere_position = [[Centromere#Acrocentric|Acrocentric]]<ref name="StrachanRead2010">{{cite book|author1=Tom Strachan|author2=Andrew Read|title=Human Molecular Genetics|url=https://books.google.com/books?id=dSwWBAAAQBAJ&pg=PA45|date=2 April 2010|publisher=Garland Science|isbn=978-1-136-84407-2|page=45}}</ref><br/>(15.0 Mbp<ref name="850bphs">Genome Decoration Page, NCBI. [
| chr = 22
| ensembl_id = 22
Line 15 ⟶ 16:
| genbank_id = CM000684
|caption=Human chromosome 22 pair after [[G banding|G-banding]].<br/>One is from mother, one is from father.|image2=Human_male_karyotpe_high_resolution_-_Chromosome_22.png}}
'''Chromosome 22''' is one of the 23 pairs of [[chromosome]]s in human [[cell (biology)|cells]]. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about
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 [[
==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 |
{| class="wikitable" style="text-align:right"
! Estimated by
! [[Protein-coding genes]]
Line 39:
|-
| [[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
| 2019-07-08
|-
Line 60:
{{columns-list|
* [[ADM2]]: encoding [[protein]] ADM2
* [[APOBEC3B]]: encoding [[protein]]
* [[ARFGAP3]]: encoding [[protein]] ADP-ribosylation factor GTPase-activating protein 3
* [[ASCC2]]: encoding [[protein]]
* [[ATF4]] (22q13) encoding protein cyclic AMP-dependent transcription factor ATF-4
* [[BCR (gene)|BCR]] (22q11) encoding breakpoint cluster region protein
Line 68:
* [[CBX7 (gene)|CBX7]] (22q13) encoding chromobox protein homolog 7
* [[CDC42EP1]]: CDC42 effector protein 1
* [[CECR1]]:
* [[CHEK2]] (22q12)
* [[COMT]]: Catechol-O-methyltransferase
* [[CRELD2]]:
* [[CSDC2]]:
* [[Casein kinase 1 isoform epsilon|CSNK1E]]: encoding [[enzyme]]
* [[DGCR5]]: encoding a [[long non-coding RNA]]
* [[DGCR6]]: DiGeorge
* [[EP300]]
* [[Ep300 antisense rna 1|EP300-AS1]]
* [[EWSR1]]
* [[TAFA5]]:
* [[FAM227a|FAM227A]]: encoding protein FAM227A
* [[FBLN1]]
* [[GTPBP1]]: GTP-binding protein 1
* [[HMGXB4]]: encoding protein HMG-box containing 4
* [[IFT27]]: encoding protein intraflagellar transport 27
* [[IGL@]]
* [[IGLJ3]] encoding [[protein]]
* [[IGLL5]]: encoding protein immunoglobulin lambda like polypeptide 5
* [[KIAA0930]]: encoding uncharacterized protein KIAA0930
* [[LINC00899]] encoding [[protein]]
* [[MAPK1]]
* [[MAPK12]]
* [[MCAT (gene)|MCAT]]: encoding [[enzyme]]
* [[MCM5]]
* [[Macrophage migration inhibitory factor|MIF]]
Line 99 ⟶ 102:
* [[MYH9]]
* [[Merlin (protein)|NF2]]
* [[NOL12]]: encoding [[protein]]
* [[PARVB]]
* [[PDGFB]]
* [[PI4KA]]: encoding [[enzyme]]
* [[PI4KAP2]]: pseudogene phosphatidylinositol 4-kinase alpha pseudogene 2
* [[PISD (gene)|PISD]]: encoding [[enzyme]]
* [[PNPLA3]]: encoding [[enzyme]]
* [[PRAME]]: encoding [[protein]]
* [[RAC2]]
* [[RBX1]]
* [[RNR5]]: encoding RNA, ribosomal 45S cluster 5
* [[
* [[
* [[
* [[RTL6]]: encoding protein retrotransposon Gag Like 6
* [[SAMM50]]: encoding [[protein]] sorting and assembly machinery component 50 homolog
* [[SEPT3]]: encoding [[protein]] neuronal-specific septin-3
* [[SEPT5]]
* [[SHFM3P1]]:
* [[SOX10]]
* [[SYNGR1]]: encoding [[protein]]
* [[TBC1D10A]]: encoding [[protein]] TBC1 domain family member 10A
* [[TEF (gene)|TEF]]: encoding [[protein]]
* [[THAP7]]: encoding [[protein]] THAP domain-containing protein 7
* [[THOC5]]: encoding [[protein]] THO complex subunit 5 homolog
* [[TRMU]]: encoding [[enzyme]]
* [[TTC28]]: encoding [[protein]]
* [[TTLL1]]: encoding [[enzyme]]
* [[Ku70|XRCC6]]: encoding [[protein]] Ku70
}}
{| class="wikitable"
|-
|{{Locus|22|q|11|.1-q11.2}} || [[IGL@]]||[[Asymmetric crying facies]] (Cayler cardiofacial syndrome) ||
Line 140 ⟶ 146:
| {{Locus|22|q|12|.1-q13.1}} || [[NEFH]]|| neurofilament, heavy polypeptide 200kDa ||
|-
| {{Locus|22|q|12|.1}}<ref>{{cite journal|last1=Beck|first1=Megan|last2=Peterson|first2=Jess F.|last3=McConnell|first3=Juliann|last4=McGuire|first4=Marianne|last5=Asato|first5=Miya|last6=Losee|first6=Joseph E.|last7=Surti|first7=Urvashi|last8=Madan-Khetarpal|first8=Suneeta|last9=Rajkovic|first9=Aleksandar|last10=Yatsenko|first10=Svetlana A.|title=Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the gene|journal=American Journal of Medical Genetics Part A|date=May 2015|volume=167|issue=5|pages=1047–1053|doi=10.1002/ajmg.a.36839|url=https://escholarship.org/uc/item/0vx445vv#page-1|pmid=25810350|s2cid=205319722}}</ref>|| [[CHEK2]]|| CHK2 checkpoint homolog (S. pombe) ||
|-
| {{Locus|22|q|12|.2}} || [[NF2 (gene)|NF2]]|| neurofibromin 2 || bilateral [[acoustic neuroma]]
Line 166 ⟶ 172:
* [[Cat eye syndrome]]
* [[Chronic myeloid leukemia]]
* [[DiGeorge
* [[Desmoplastic small round cell tumor]]
* [[22q11.2 distal deletion syndrome]]
Line 178 ⟶ 184:
* [[Neurofibromatosis type 2]]
* [[Opitz G/BBB syndrome]]
* [[Renal
* [[Rubinstein-Taybi syndrome]]
* [[Waardenburg syndrome]]
* [[Schizophrenia]]<ref name="pmid12477929">{{cite journal |vauthors=Liu H, Abecasis GR, Heath SC, Knowles A, Demars S, Chen YJ, Roos JL, Rapoport JL, Gogos JA, Karayiorgou M |title=Genetic variation in the 22q11 locus and susceptibility to schizophrenia |journal=[[Proc. Natl. Acad. Sci. U.S.A.]] |volume=99 |issue=26 |pages=16859–64 |date=December 2002 |pmid=12477929 |pmc=139234 |doi=10.1073/pnas.232186099 |bibcode=2002PNAS...9916859L |doi-access=free }}</ref>
{{div col end}}
Line 189 ⟶ 195:
* [[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
* [[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
==Cytogenetic band==
Line 205 ⟶ 211:
| width2 = 1003
| height2= 2801
| caption2 = G-banding patterns of human chromosome 22 in three different resolutions (400,<ref name="400bphs">Genome Decoration Page, NCBI. [
}}
{| class="wikitable" style="text-align:right"
|+ [[G banding|G-band]]s of human chromosome 22 in resolution 850 bphs<ref
! Chr.
! Arm<ref>"'''p'''": Short arm; "'''q'''": Long arm.</ref>
Line 288 ⟶ 294:
==Further reading==
* {{cite journal |vauthors=Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP | title=The DNA sequence of human chromosome 22 | journal=Nature | year=1999 | pages=489–95 | volume=402 | issue=6761 | pmid=10591208 | doi=10.1038/990031| bibcode=1999Natur.402..489D | doi-access=free }}
* {{cite journal | author=Gilbert F | title=Disease genes and chromosomes: disease maps of the human genome. Chromosome 22 | journal=Genet Test | year=1998 | pages=89–97 | volume=2 | issue=1 | pmid=10464604 | doi=10.1089/gte.1998.2.89}}
* {{cite journal |vauthors=Kurzrock R, Kantarjian HM, Druker BJ, Talpaz M | title=Philadelphia chromosome-positive leukemias: from basic mechanisms to molecular therapeutics | journal=Ann Intern Med | year=2003 | pages=819–30 | volume=138 | issue=10 | pmid=12755554 | doi=10.7326/0003-4819-138-10-200305200-00010| s2cid=25865321 }}
* {{cite journal |vauthors=Maynard TM, Haskell GT, Lieberman JA, LaMantia AS | title=22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome | journal=Int J Dev Neurosci | year=2002 | pages=407–19 | volume=20 | issue=3–5 | pmid=12175881 | doi=10.1016/S0736-5748(02)00050-3| s2cid=22941004 }}
* {{cite journal |vauthors=McDermid HE, Morrow BE | title=Genomic disorders on 22q11 | journal=Am J Hum Genet | year=2002 | pages=1077–88 | volume=70 | issue=5 | pmid=11925570 | doi=10.1086/340363 | pmc=447586}}
* {{cite journal |vauthors=McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH | title=The Philadelphia story: the 22q11.2 deletion: report on 250 patients | journal=Genet Couns | year=1999 | pages=11–24 | volume=10 | issue=1 | pmid=10191425}}
|