SRY: Difference between revisions
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#REDIRECT [[Sex-determining region Y protein]] |
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{{otheruses1|the SRY gene}} |
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{{PBB_Controls |
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| update_page = yes |
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| require_manual_inspection = no |
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| update_protein_box = yes |
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| update_summary = yes |
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| update_citations = yes |
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}} |
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{{GNF_Protein_box |
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| image = PBB_Protein_SRY_image.jpg |
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| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1hry. |
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| PDB = {{PDB2|1hry}}, {{PDB2|1hrz}}, {{PDB2|1j46}}, {{PDB2|1j47}} |
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| Name = Sex determining region Y |
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| HGNCid = 11311 |
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| Symbol = SRY |
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| AltSymbols =; TDF; TDY |
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| OMIM = 480000 |
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| ECnumber = |
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| Homologene = 48168 |
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| MGIid = 98660 |
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| GeneAtlas_image1 = PBB_GE_SRY_207893_at_tn.png |
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| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008301 |text = DNA bending activity}} {{GNF_GO|id=GO:0016563 |text = transcription activator activity}} |
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| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} |
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| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007548 |text = sex differentiation}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}} {{GNF_GO|id=GO:0030238 |text = male sex determination}} |
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| Orthologs = {{GNF_Ortholog_box |
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| Hs_EntrezGene = 6736 |
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| Hs_Ensembl = ENSG00000184895 |
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| Hs_RefseqProtein = NP_003131 |
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| Hs_RefseqmRNA = NM_003140 |
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| Hs_GenLoc_db = |
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| Hs_GenLoc_chr = Y |
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| Hs_GenLoc_start = 2714896 |
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| Hs_GenLoc_end = 2715740 |
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| Hs_Uniprot = Q05066 |
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| Mm_EntrezGene = 21674 |
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| Mm_Ensembl = ENSMUSG00000069036 |
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| Mm_RefseqmRNA = NM_011564 |
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| Mm_RefseqProtein = NP_035694 |
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| Mm_GenLoc_db = |
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| Mm_GenLoc_chr = Y |
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| Mm_GenLoc_start = 1947341 |
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| Mm_GenLoc_end = 1948528 |
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| Mm_Uniprot = Q2T9H0 |
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}} |
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}} |
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'''SRY''' ('''Sex-determining Region Y''') is a [[sex]]-determining [[gene]] on the [[Y chromosome]] in [[human]]s and other [[primate]]s. It is not the only, or even most common sex-determining gene in [[mammal]]s. Most non-primate mammals use the Y chromosome gene [[UBE1]] for the same purpose. |
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The SRY gene encodes the [[testis determining factor]], which is also referred to as the '''SRY protein'''. |
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<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. --> |
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{{PBB_Summary |
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| section_title = |
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| summary_text = This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome.<ref>{{cite web | title = Entrez Gene: SRY sex determining region Y| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6736| accessdate = }}</ref> |
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}} |
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==Impact upon anatomical sex== |
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Since its discovery, the importance of the SRY gene in sex determination has been extensively documented: |
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* Humans with one Y chromosome and multiple [[X chromosome]]s ([[Klinefelter's syndrome|XXY]], XXXY etc.) are usually males. |
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* Individuals with a male [[phenotype]] and an XX (female) [[genotype]] have been observed; these males have the SRY gene in one or both X chromosomes, moved there by [[chromosomal translocation]]. (However, these males are infertile.) |
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* Similarly, there are females with an XXY or XY genotype. These females have no SRY gene in their Y chromosome, or the SRY gene exists but is defective (mutated). |
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==SRY and the Olympics== |
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One of the most controversial uses of this discovery was as a means for [[Gender verification in sports|gender verification]] at the [[Olympic Games]], under a system implemented by the [[International Olympic Committee]] in [[1992]]. Athletes with a SRY gene were not permitted to participate as females, although all athletes in whom this was "detected" at the [[1996 Summer Olympics]] were ruled [[Type I and type II errors|false positive]]s and were not disqualified. In the late 1990s, a number of relevant professional societies in United States called for elimination of gender verification, including the [[American Medical Association]], the [[American Academy of Pediatrics]], the [[American College of Physicians]], the [[American College of Obstetricians and Gynecologists]], the [[Endocrine Society]] and the [[American Society of Human Genetics]], stating that the method used was uncertain and ineffective.<ref name="facius"/> The screening was eliminated as of the [[2000 Summer Olympics]].<ref name="facius">{{cite web | last = Facius | first = Georg M. | year = August 2004 | url = http://www.bodieslikeours.org/index.php?option=content&task=view&id=242 | title = The Major Medical Blunder of the 20th Century | publisher = Bodies Like Ours | accessdate = May 30 | accessyear = 2006}}</ref><ref>{{cite journal | first = LJ | last = Elsas | coauthors = Ljungqvist A, Ferguson-Smith MA, Simpson JL, Genel M, Carlson AS, Ferris E, de la Chapelle A, Ehrhardt AA | year = 2000 | month = July-August | title = Gender verification of female athletes | journal = Genetics in Medicine | volume = 2 | issue = 4 | pages = 249-54 | id = PMID 11252710 | accessdate = 2006-05-30}}</ref><ref>{{cite journal | first = BD | last = Dickinson | coauthors = Genel M, Robinowitz CB, Turner PL, Woods GL | year = 2002 | month = October | title = Gender verification of female Olympic athletes | journal = Medicine & Science in Sports & Exercise | volume = 34 | issue = 10 | pages = 1543 | id = PMID 12370551 | accessdate = 2006-05-30}}</ref> |
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==SRY-related diseases and defects== |
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Individuals with XY genotype and functional SRY gene can have a female [[phenotype]], where the underlying cause is [[androgen insensitivity syndrome]] (AIS). |
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SRY has been linked to the fact that men are more likely than women to develop [[dopamine]]-related diseases such as [[schizophrenia]] and [[Parkinson's disease]]. SRY makes a protein that controls concentrations of dopamine, the neurotransmitter that carries signals from the brain that control movement and coordination.<ref>{{cite journal | first = P | last = Dewing | coauthors = Chiang CW, Sinchak K, Sim H, Fernagut PO, Kelly S, Chesselet MF, Micevych PE, Albrecht KH, Harley VR, Vilain E | year = 2006 | month = Feb 21 | title = Direct regulation of adult brain function by the male-specific factor SRY | journal = Current Biology | volume = 16 | issue = 4 | pages = 415-20 | id = PMID 16488877 | accessdate = 2006-05-30}}</ref><ref>{{cite conference | author=Haaxma, C., ''et al.'' | title=Gender differences in Parkinson's disease | booktitle=1st World Parkinson Congress | year=Feb. 22-26, 2006}}</ref> |
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==See also== |
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*[[Sex-determination system]] |
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*[[Testis-determining factor]] |
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==References== |
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{{reflist}} |
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==Further reading== |
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{{refbegin | 2}} |
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{{PBB_Further_reading |
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| citations = |
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*{{cite journal | author=Haqq CM, King CY, Ukiyama E, ''et al.'' |title=Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY. |journal=Science |volume=266 |issue= 5190 |pages= 1494-500 |year= 1995 |pmid= 7985018 |doi= }} |
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*{{cite journal | author=Goodfellow PN, Lovell-Badge R |title=SRY and sex determination in mammals. |journal=Annu. Rev. Genet. |volume=27 |issue= |pages= 71-92 |year= 1994 |pmid= 8122913 |doi= 10.1146/annurev.ge.27.120193.000443 }} |
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*{{cite journal | author=Hawkins JR |title=Mutational analysis of SRY in XY females. |journal=Hum. Mutat. |volume=2 |issue= 5 |pages= 347-50 |year= 1994 |pmid= 8257986 |doi= 10.1002/humu.1380020504 }} |
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*{{cite journal | author=Harley VR |title=The molecular action of testis-determining factors SRY and SOX9. |journal=Novartis Found. Symp. |volume=244 |issue= |pages= 57-66; discussion 66-7, 79-85, 253-7 |year= 2002 |pmid= 11990798 |doi= }} |
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*{{cite journal | author=Jordan BK, Vilain E |title=Sry and the genetics of sex determination. |journal=Adv. Exp. Med. Biol. |volume=511 |issue= |pages= 1-13; discussion 13-4 |year= 2003 |pmid= 12575752 |doi= }} |
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*{{cite journal | author=Oh HJ, Lau YF |title=KRAB: a partner for SRY action on chromatin. |journal=Mol. Cell. Endocrinol. |volume=247 |issue= 1-2 |pages= 47-52 |year= 2006 |pmid= 16414182 |doi= 10.1016/j.mce.2005.12.011 }} |
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*{{cite journal | author=Polanco JC, Koopman P |title=Sry and the hesitant beginnings of male development. |journal=Dev. Biol. |volume=302 |issue= 1 |pages= 13-24 |year= 2007 |pmid= 16996051 |doi= 10.1016/j.ydbio.2006.08.049 }} |
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*{{cite journal | author=Hawkins JR, Taylor A, Berta P, ''et al.'' |title=Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. |journal=Hum. Genet. |volume=88 |issue= 4 |pages= 471-4 |year= 1992 |pmid= 1339396 |doi= }} |
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*{{cite journal | author=Hawkins JR, Taylor A, Goodfellow PN, ''et al.'' |title=Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. |journal=Am. J. Hum. Genet. |volume=51 |issue= 5 |pages= 979-84 |year= 1992 |pmid= 1415266 |doi= }} |
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*{{cite journal | author=Ferrari S, Harley VR, Pontiggia A, ''et al.'' |title=SRY, like HMG1, recognizes sharp angles in DNA. |journal=EMBO J. |volume=11 |issue= 12 |pages= 4497-506 |year= 1992 |pmid= 1425584 |doi= }} |
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*{{cite journal | author=Jäger RJ, Harley VR, Pfeiffer RA, ''et al.'' |title=A familial mutation in the testis-determining gene SRY shared by both sexes. |journal=Hum. Genet. |volume=90 |issue= 4 |pages= 350-5 |year= 1993 |pmid= 1483689 |doi= }} |
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*{{cite journal | author=Vilain E, McElreavey K, Jaubert F, ''et al.'' |title=Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. |journal=Am. J. Hum. Genet. |volume=50 |issue= 5 |pages= 1008-11 |year= 1992 |pmid= 1570829 |doi= }} |
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*{{cite journal | author=Müller J, Schwartz M, Skakkebaek NE |title=Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female. |journal=J. Clin. Endocrinol. Metab. |volume=75 |issue= 1 |pages= 331-3 |year= 1992 |pmid= 1619028 |doi= }} |
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*{{cite journal | author=McElreavey KD, Vilain E, Boucekkine C, ''et al.'' |title=XY sex reversal associated with a nonsense mutation in SRY. |journal=Genomics |volume=13 |issue= 3 |pages= 838-40 |year= 1992 |pmid= 1639410 |doi= }} |
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*{{cite journal | author=Sinclair AH, Berta P, Palmer MS, ''et al.'' |title=A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. |journal=Nature |volume=346 |issue= 6281 |pages= 240-4 |year= 1990 |pmid= 1695712 |doi= 10.1038/346240a0 }} |
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*{{cite journal | author=Berkovitz GD, Fechner PY, Zacur HW, ''et al.'' |title=Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. |journal=Medicine (Baltimore) |volume=70 |issue= 6 |pages= 375-83 |year= 1991 |pmid= 1956279 |doi= }} |
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*{{cite journal | author=Berta P, Hawkins JR, Sinclair AH, ''et al.'' |title=Genetic evidence equating SRY and the testis-determining factor. |journal=Nature |volume=348 |issue= 6300 |pages= 448-50 |year= 1991 |pmid= 2247149 |doi= 10.1038/348448A0 }} |
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*{{cite journal | author=Jäger RJ, Anvret M, Hall K, Scherer G |title=A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. |journal=Nature |volume=348 |issue= 6300 |pages= 452-4 |year= 1991 |pmid= 2247151 |doi= 10.1038/348452a0 }} |
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*{{cite journal | author=Ellis NA, Goodfellow PJ, Pym B, ''et al.'' |title=The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. |journal=Nature |volume=337 |issue= 6202 |pages= 81-4 |year= 1989 |pmid= 2909893 |doi= 10.1038/337081a0 }} |
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*{{cite journal | author=Whitfield LS, Hawkins TL, Goodfellow PN, Sulston J |title=41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome. |journal=Genomics |volume=27 |issue= 2 |pages= 306-11 |year= 1995 |pmid= 7557997 |doi= }} |
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}} |
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{{refend}} |
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==External links== |
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* {{MeshName|Genes,+sry}} |
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* {{MeshName|Sex-Determining+Region+Y+Protein}} |
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{{Transcription factors}} |
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[[Category:Transcription factors]] |
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[[Category:Genes]] |
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[[de:Sex determining region of Y]] |
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[[es:SRY]] |
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[[fr:SRY]] |
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[[fi:Sry]] |
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[[sv:SRY-gen]] |
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[[zh:SRY基因]] |
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Latest revision as of 15:51, 12 June 2022
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