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SOX9 sits in a [[gene desert]] on 17q24 in humans. Deletions, disruptions by [[chromosomal translocation|translocation]] breakpoints and a single point mutation of highly conserved non-coding elements located > 1 [[Base pair#Length measurements|Mb]] from the transcription unit on either side of SOX9 have been associated with [[Pierre Robin syndrome|Pierre Robin Sequence]], often with a [[cleft palate]].<ref name="Dixon_2011"/><ref name="pmid19234473">{{cite journal | vauthors = Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S | display-authors = 6 | title = Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence | journal = Nature Genetics | volume = 41 | issue = 3 | pages = 359–64 | date = March 2009 | pmid = 19234473 | doi = 10.1038/ng.329 | s2cid = 29933548 }}</ref>
The Sox9 protein has been implicated in both initiation and progression of multiple solid tumors.<ref name="The versatile functions of Sox9 in">{{cite journal |last1=Jo |first1=A |last2=Denduluri |first2=S |last3=Zhang |first3=B |last4=Wang |first4=Z |last5=Yin |first5=L |last6=Yan |first6=Z |last7=Kang |first7=R |last8=Shi |first8=LL |last9=Mok |first9=J |last10=Lee |first10=MJ |last11=Haydon |first11=RC |title=The versatile functions of Sox9 in development, stem cells, and human diseases. |journal=Genes & Diseases |date=December 2014 |volume=1 |issue=2 |pages=149–161 |doi=10.1016/j.gendis.2014.09.004 |pmid=25685828|pmc=4326072 }}</ref> Its role as a master regulator of [[morphogenesis]] during [[Development of the human body|human development]] makes it an ideal candidate for perturbation in malignant tissues. Specifically, Sox9 appears to induce invasiveness and therapy-resistance in prostate,<ref name="Transient Sox9 Expression Facilitat">{{cite journal |last1=Nouri |first1=M |last2=Massah |first2=S |last3=Caradec |first3=J |last4=Lubik |first4=AA |last5=Li |first5=N |last6=Truong |first6=S |last7=Lee |first7=AR |last8=Fazli |first8=L |last9=Ramnarine |first9=VR |last10=Lovnicki |first10=JM |last11=Moore |first11=J |last12=Wang |first12=M |last13=Foo |first13=J |last14=Gleave |first14=ME |last15=Hollier |first15=BG |last16=Nelson |first16=C |last17=Collins |first17=C |last18=Dong |first18=X |last19=Buttyan |first19=R |title=Transient Sox9 Expression Facilitates Resistance to Androgen-Targeted Therapy in Prostate Cancer. |journal=Clinical Cancer Research |date=9 January 2020 |volume=26 |issue=7 |pages=1678–1689 |doi=10.1158/1078-0432.CCR-19-0098 |pmid=31919137|doi-access=free }}</ref> colorectal,<ref>{{cite journal |last1=Prévostel |first1=C |last2=Blache |first2=P |title=The dose-dependent effect of SOX9 and its incidence in colorectal cancer. |journal=European Journal of Cancer |date=November 2017 |volume=86 |pages=150–157 |doi=10.1016/j.ejca.2017.08.037 |pmid=28988015}}</ref> breast<ref>{{cite journal |last1=Grimm |first1=D |last2=Bauer |first2=J |last3=Wise |first3=P |last4=Krüger |first4=M |last5=Simonsen |first5=U |last6=Wehland |first6=M |last7=Infanger |first7=M |last8=Corydon |first8=TJ |title=The role of SOX family members in solid tumours and metastasis. |journal=Seminars in Cancer Biology |date=23 March 2019 |volume=67 |issue=Pt 1 |pages=122–153 |doi=10.1016/j.semcancer.2019.03.004 |pmid=30914279|doi-access=free }}</ref> and other cancers, and therefore promotes lethal metastasis.<ref>{{cite journal |last1=Aguilar-Medina |first1=M |last2=Avendaño-Félix |first2=M |last3=Lizárraga-Verdugo |first3=E |last4=Bermúdez |first4=M |last5=Romero-Quintana |first5=JG |last6=Ramos-Payan |first6=R |last7=Ruíz-García |first7=E |last8=López-Camarillo |first8=C |title=SOX9 Stem-Cell Factor: Clinical and Functional Relevance in Cancer. |journal=Journal of Oncology |date=2019 |volume=2019 |pages=6754040 |doi=10.1155/2019/6754040 |pmid=31057614|pmc=6463569 |doi-access=free }}</ref> Many of these oncogenic effects of Sox9 appear dose dependent.<ref>{{cite journal |last1=Yang |first1=X |last2=Liang |first2=R |last3=Liu |first3=C |last4=Liu |first4=JA |last5=Cheung |first5=MPL |last6=Liu |first6=X |last7=Man |first7=OY |last8=Guan |first8=XY |last9=Lung |first9=HL |last10=Cheung |first10=M |title=SOX9 is a dose-dependent metastatic fate determinant in melanoma. |journal=Journal of Experimental & Clinical Cancer Research |date=14 January 2019 |volume=38 |issue=1 |pages=17 |doi=10.1186/s13046-018-0998-6 |pmid=30642390|pmc=6330758 }}</ref><ref name="Transient Sox9 Expression Facilitat"/><ref name="The versatile functions of Sox9 in"/>
== SOX9 localisation and dynamics ==
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* {{cite journal | vauthors = Meyer J, Südbeck P, Held M, Wagner T, Schmitz ML, Bricarelli FD, Eggermont E, Friedrich U, Haas OA, Kobelt A, Leroy JG, Van Maldergem L, Michel E, Mitulla B, Pfeiffer RA, Schinzel A, Schmidt H, Scherer G | display-authors = 6 | title = Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations | journal = Human Molecular Genetics | volume = 6 | issue = 1 | pages = 91–8 | date = January 1997 | pmid = 9002675 | doi = 10.1093/hmg/6.1.91 | doi-access = free }}
* {{cite journal | vauthors = Cameron FJ, Sinclair AH | title = Mutations in SRY and SOX9: testis-determining genes | journal = Human Mutation | volume = 9 | issue = 5 | pages = 388–95 | year = 1997 | pmid = 9143916 | doi = 10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0 }}
* {{cite journal | vauthors = Wunderle VM, Critcher R, Hastie N, Goodfellow PN, Schedl A | title = Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 95 | issue = 18 | pages = 10649–54 | date = September 1998 | pmid = 9724758 | pmc = 27949 | doi = 10.1073/pnas.95.18.10649 | bibcode = 1998PNAS...9510649W | doi-access = free }}
* {{cite journal | vauthors = De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, Scherer G, Poulat F, Berta P | display-authors = 6 | title = Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene | journal = Molecular and Cellular Biology | volume = 18 | issue = 11 | pages = 6653–65 | date = November 1998 | pmid = 9774680 | pmc = 109250 | doi = 10.1128/mcb.18.11.6653 }}
* {{cite journal | vauthors = McDowall S, Argentaro A, Ranganathan S, Weller P, Mertin S, Mansour S, Tolmie J, Harley V | display-authors = 6 | title = Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia | journal = The Journal of Biological Chemistry | volume = 274 | issue = 34 | pages = 24023–30 | date = August 1999 | pmid = 10446171 | doi = 10.1074/jbc.274.34.24023 | doi-access = free }}
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