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Microsatellite
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===Effects on gene regulation=== Length changes of microsatellites within [[Promoter (genetics)|promoters]] and other [[Cis-regulatory element|cis-regulatory regions]] can change gene expression quickly, between generations. The human genome contains many (>16,000) short sequence repeats in regulatory regions, which provide 'tuning knobs' on the expression of many genes.<ref name="Gymrek 22–29"/><ref name="Rockman 2002">{{cite journal | vauthors = Rockman MV, Wray GA | title = Abundant raw material for cis-regulatory evolution in humans | journal = Molecular Biology and Evolution | volume = 19 | issue = 11 | pages = 1991–2004 | date = November 2002 | pmid = 12411608 | doi = 10.1093/oxfordjournals.molbev.a004023 | doi-access = free }}</ref> Length changes in bacterial SSRs can affect [[Fimbria (bacteriology)|fimbriae]] formation in ''Haemophilus influenzae'', by altering promoter spacing.<ref name="Moxon 1994" /> Dinucleotide microsatellites are linked to abundant variation in cis-regulatory control regions in the human genome.<ref name="Rockman 2002" /> Microsatellites in control regions of the Vasopressin 1a receptor gene in voles influence their social behavior, and level of monogamy.<ref name="Hammock 2005">{{cite journal | vauthors = Hammock EA, Young LJ | title = Microsatellite instability generates diversity in brain and sociobehavioral traits | journal = Science | volume = 308 | issue = 5728 | pages = 1630–4 | date = June 2005 | pmid = 15947188 | doi = 10.1126/science.1111427 | bibcode = 2005Sci...308.1630H | s2cid = 18899853 }}</ref> In [[Ewing sarcoma]] (a type of painful bone cancer in young humans), a point mutation has created an extended GGAA microsatellite which binds a transcription factor, which in turn activates the EGR2 gene which drives the cancer.<ref>{{cite journal | vauthors = Grünewald TG, Bernard V, Gilardi-Hebenstreit P, Raynal V, Surdez D, Aynaud MM, Mirabeau O, Cidre-Aranaz F, Tirode F, Zaidi S, Perot G, Jonker AH, Lucchesi C, Le Deley MC, Oberlin O, Marec-Bérard P, Véron AS, Reynaud S, Lapouble E, Boeva V, Rio Frio T, Alonso J, Bhatia S, Pierron G, Cancel-Tassin G, Cussenot O, Cox DG, Morton LM, Machiela MJ, Chanock SJ, Charnay P, Delattre O | display-authors = 6 | title = Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite | journal = Nature Genetics | volume = 47 | issue = 9 | pages = 1073–8 | date = September 2015 | pmid = 26214589 | pmc = 4591073 | doi = 10.1038/ng.3363 }}</ref> In addition, other GGAA microsatellites may influence the expression of genes that contribute to the clinical outcome of Ewing sarcoma patients.<ref>{{cite journal | vauthors = Musa J, Cidre-Aranaz F, Aynaud MM, Orth MF, Knott MM, Mirabeau O, Mazor G, Varon M, Hölting TL, Grossetête S, Gartlgruber M, Surdez D, Gerke JS, Ohmura S, Marchetto A, Dallmayer M, Baldauf MC, Stein S, Sannino G, Li J, Romero-Pérez L, Westermann F, Hartmann W, Dirksen U, Gymrek M, Anderson ND, Shlien A, Rotblat B, Kirchner T, Delattre O, Grünewald TG | display-authors = 6 | title = Cooperation of cancer drivers with regulatory germline variants shapes clinical outcomes | journal = Nature Communications | volume = 10 | issue = 1 | pages = 4128 | date = September 2019 | pmid = 31511524 | pmc = 6739408 | doi = 10.1038/s41467-019-12071-2 | bibcode = 2019NatCo..10.4128M }}</ref>
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