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{{Infobox_gene}}

'''轉錄因子SOX9'''是一種[[蛋白質]]，在人類中由''SOX9''[[基因]]編碼，是[[塞特利氏細胞]]等细胞的标志物。<ref name="pmid8348155">{{cite journal | vauthors = Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, Goodpasture C, Guldberg P, Held KR, Reinwein H | title = Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1 | journal = Nature Genetics | volume = 4 | issue = 2 | pages = 170–174 | date = June 1993 | pmid = 8348155 | doi = 10.1038/ng0693-170 | s2cid = 12263655 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SOX9 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6662}}</ref>

==功能==
SOX9識別序列CCTTGAG，與其他[[HMG-box]]類[[DNA結合結構域|DNA結合]]蛋白一起發揮作用。它由增殖但非肥大軟骨細胞表達，對於前體細胞分化為[[軟骨細胞]]至關重要<ref>{{cite book | vauthors = Kumar V, Abbas AK, Aster JC |title=Robbins and Cotran pathologic basis of disease | url = https://archive.org/details/robbinscotranpat0009unse |isbn=9780808924500 |page=[https://archive.org/details/robbinscotranpat0009unse/page/1182 1182] |edition=Ninth |year=2015 |publisher=Elsevier/Saunders }}</ref>，並且與[[類固醇生成因子1]]一起調節抗苗勒氏激素（[[抗苗勒氏激素|AMH]]）基因的轉錄。<ref name="entrez"/>

SOX9也在雄性性發育中扮演著關鍵角色；通過與Sf1協同作用，SOX9可以在[[賽特利氏細胞]]中產生AMH，以抑制女性生殖系統的形成。<ref name="pmid9774680">{{cite journal | vauthors = De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, Scherer G, Poulat F, Berta P | title = Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene | url = https://archive.org/details/sim_molecular-and-cellular-biology_1998-11_18_11/page/6652 | journal = Molecular and Cellular Biology | volume = 18 | issue = 11 | pages = 6653–6665 | date = November 1998 | pmid = 9774680 | pmc = 109250 | doi = 10.1128/mcb.18.11.6653 }}</ref> 它還與其他幾個基因互作，以促進雄性生殖器官的發育。該過程始於轉錄因子[[睾丸決定因子]]（由[[Y染色體]]的性別決定區[[SRY]]編碼）通過結合在該基因[[上游與下游（DNA）|上游]]的一段[[增強子（遺傳學）|增強子]]序列，激活SOX9活性。<ref name="Moniot">{{cite journal | vauthors = Moniot B, Declosmenil F, Barrionuevo F, Scherer G, Aritake K, Malki S, Marzi L, Cohen-Solal A, Georg I, Klattig J, Englert C, Kim Y, Capel B, Eguchi N, Urade Y, Boizet-Bonhoure B, Poulat F | title = The PGD2 pathway, independently of FGF9, amplifies SOX9 activity in Sertoli cells during male sexual differentiation | journal = Development | volume = 136 | issue = 11 | pages = 1813–1821 | date = June 2009 | pmid = 19429785 | pmc = 4075598 | doi = 10.1242/dev.032631 }}</ref> 接著，SOX9活化[[FGF9]]並與FGF9形成前饋迴路<ref name="pmid16700629">{{cite journal | vauthors = Kim Y, Kobayashi A, Sekido R, DiNapoli L, Brennan J, Chaboissier MC, Poulat F, Behringer RR, Lovell-Badge R, Capel B | title = Fgf9 and Wnt4 act as antagonistic signals to regulate mammalian sex determination | journal = PLOS Biology | volume = 4 | issue = 6 | pages = e187 | date = June 2006 | pmid = 16700629 | pmc = 1463023 | doi = 10.1371/journal.pbio.0040187 | doi-access = free }}</ref>和[[PGD2]]。<ref name="Moniot"/>

這些迴路對於產生SOX9十分重要；如果沒有這些迴路，SOX9將會耗盡，且幾乎可以確定會出現女性的發育。SOX9活化FGF9啟動男性發育中的重要過程，例如創建[[睪丸索]]以及[[塞特利氏細胞]]的增殖。<ref name="pmid16700629"/> SOX9與[[Dax1]]的結合實際上會產生塞爾托利細胞，這是雄性發育中另一個重要的過程。<ref name="pmid15944188">{{cite journal | vauthors = Bouma GJ, Albrecht KH, Washburn LL, Recknagel AK, Churchill GA, Eicher EM | title = Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells | journal = Development | volume = 132 | issue = 13 | pages = 3045–3054 | date = July 2005 | pmid = 15944188 | doi = 10.1242/dev.01890 | doi-access = free }}</ref> 在[[大腦發育]]中，其小鼠直系同源基因SOX9誘導[[WWP1|Wwp1]]、[[WWP2|Wwp2]]和miR-140的表達，以調節新生神經細胞進入皮質板，並調節皮質神經元的軸突分支和軸突形成。<ref>{{cite journal | vauthors = Ambrozkiewicz MC, Schwark M, Kishimoto-Suga M, Borisova E, Hori K, Salazar-Lázaro A, Rusanova A, Altas B, Piepkorn L, Bessa P, Schaub T, Zhang X, Rabe T, Ripamonti S, Rosário M, Akiyama H, Jahn O, Kobayashi T, Hoshino M, Tarabykin V, Kawabe H | title = Polarity Acquisition in Cortical Neurons Is Driven by Synergistic Action of Sox9-Regulated Wwp1 and Wwp2 E3 Ubiquitin Ligases and Intronic miR-140 | journal = Neuron | volume = 100 | issue = 5 | pages = 1097–1115.e15 | date = December 2018 | pmid = 30392800 | doi = 10.1016/j.neuron.2018.10.008 | doi-access = free }}</ref>

Sox9，也被稱為SRY-Box轉錄因子9，是性別決定中一個重要的基因。SOX家族基因全都是Y染色體性別決定因子SRY的轉錄因子。SRY基因編碼SOX轉錄因子，同時它上調Sox9。Sox9之後啟動Fgf9，即成纖維細胞生長因子9，這也是雄性腺體形成過程中的另一個關鍵轉錄因子。Fgf9通過正向前饋級聯上調Sox9，這導致塞特利氏細胞分化，最終形成睪丸。<ref name="Normal Levels of Sox9 Expression in">{{cite journal | vauthors = Gonen N, Quinn A, O'Neill HC, Koopman P, Lovell-Badge R | title = Normal Levels of Sox9 Expression in the Developing Mouse Testis Depend on the TES/TESCO Enhancer, but This Does Not Act Alone | journal = PLOS Genetics | volume = 13 | issue = 1 | pages = e1006520 | date = January 2017 | pmid = 28045957 | pmc = 5207396 | doi = 10.1371/journal.pgen.1006520 | doi-access = free }}</ref>

SOX9是[[Notch訊息傳遞途徑]]以及[[Hedgehog途徑]]的標靶，<ref>Place E, Manning E, Kim DW, Kinjo A, Nakamura G and Ohyama K (2022) SHH and Notch regulate SOX9+ progenitors to govern arcuate POMC neurogenesis. Front. Neurosci. 16:855288. doi: 10.3389/fnins.2022.855288</ref>並在調節[[神經幹細胞]][[細胞命運決定|命運]]中扮演角色。體內和體外研究顯示SOX9對[[神經元生成]]具有負調控作用，對[[膠質細胞生成]]和幹細胞存活具有正調控作用。<ref>Vogel, Julia K.; Wegner, Michael PhD,*. Sox9 in the developing central nervous system: a jack of all trades?. Neural Regeneration Research 16(4):p 676-677, April 2021. | DOI: 10.4103/1673-5374.295327
</ref>

在成年關節軟骨細胞中，通過[[siRNA]]介導的SOX9或[[RTL3]]敲低會導致另一個基因的下調，以及[[II型膠原蛋白]]（[[COL2A1]]）mRNA和蛋白表達的降低。<ref>{{cite journal | vauthors = Ball HC, Ansari MY, Ahmad N, Novak K, Haqqi TM | title = A retrotransposon gag-like-3 gene RTL3 and SOX-9 co-regulate the expression of COL2A1 in chondrocytes | journal = Connective Tissue Research | volume = 62 | issue = 6 | pages = 615–628 | date = November 2021 | pmid = 33043724 | pmc = 8404968 | doi = 10.1080/03008207.2020.1828380 }}</ref>

在缺乏SRY的情況下，於XY性腺中過度表現SOX9可以進一步促進雄性性別決定和睾丸發育。<ref name="未命名-20251117144556">Ortega, Egle A., et al. “Sry-Independent Overexpression of Sox9 Supports Spermatogenesis and Fertility in the Mouse.” Biology of Reproduction, vol. 93, no. 6, 1 Dec. 2015, pp. 1–12, https://doi.org/10.1095/biolreprod.115.135400.</ref> 亦可發現，在XX性腺異位表現SOX9，即使在缺乏SRY的情況下亦會導致睾丸的發育。<ref name="未命名_2-20251117144556">Vidal, Valerie P.I., et al. “Sox9 induces testis development in XX transgenic mice.” Nature Genetics, vol. 28, July 2001, pp. 216–217, https://doi.org/10.1038/90046.</ref> 這兩者皆證明，SOX9在缺乏SRY的情況下，無論在XX或XY性腺中，仍將持續於睾丸發育、睾丸分化和性別決定上發揮關鍵作用。亦有詳細說明SOX9可替代SRY的功能。<ref name="未命名-20251117144556"/><ref name="未命名_2-20251117144556"/>

== 臨床意義 ==
突變會導致骨骼畸形症候群[[彎骨發育不全]]，通常伴有[[常染色體性別反轉]]<ref name="entrez" />和[[裂顎]]。<ref name="Dixon_2011">{{cite journal | vauthors = Dixon MJ, Marazita ML, Beaty TH, Murray JC | title = Cleft lip and palate: understanding genetic and environmental influences | journal = Nature Reviews. Genetics | volume = 12 | issue = 3 | pages = 167–178 | date = March 2011 | pmid = 21331089 | pmc = 3086810 | doi = 10.1038/nrg2933 }}</ref>

SOX9位於人類17q24的[[基因沙漠]]中。SOX9兩側距轉錄單位超過1[[鹼基對#長度測量|Mb]]的高度保守非編碼元件的缺失、被[[染色體易位|易位]]斷點干擾以及單點突變，都與[[皮埃爾·羅賓症候群|皮埃爾·羅賓序列]]相關，且常伴有[[顎裂]]。<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 | title = Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence | journal = Nature Genetics | volume = 41 | issue = 3 | pages = 359–364 | date = March 2009 | pmid = 19234473 | doi = 10.1038/ng.329 | s2cid = 29933548 }}</ref>

SOX9蛋白已被認為與多種[[實質固態瘤]](solid tumors)的發生和進展有關。<ref name="The versatile functions of Sox9 in">{{cite journal | vauthors = Jo A, Denduluri S, Zhang B, Wang Z, Yin L, Yan Z, Kang R, Shi LL, Mok J, Lee MJ, Haydon RC | title = The versatile functions of Sox9 in development, stem cells, and human diseases | journal = Genes & Diseases | volume = 1 | issue = 2 | pages = 149–161 | date = December 2014 | pmid = 25685828 | pmc = 4326072 | doi = 10.1016/j.gendis.2014.09.004 }}</ref> 其作為[[形態發生]]的主調節因子在[[人體發育]]過程中的角色，使其成為惡性組織中擾動的理想候選者。具體而言，SOX9似乎在前列腺、<ref name="Transient Sox9 Expression Facilitat">{{cite journal | vauthors = Nouri M, Massah S, Caradec J, Lubik AA, Li N, Truong S, Lee AR, Fazli L, Ramnarine VR, Lovnicki JM, Moore J, Wang M, Foo J, Gleave ME, Hollier BG, Nelson C, Collins C, Dong X, Buttyan R | title = Transient Sox9 Expression Facilitates Resistance to Androgen-Targeted Therapy in Prostate Cancer | journal = Clinical Cancer Research | volume = 26 | issue = 7 | pages = 1678–1689 | date = April 2020 | pmid = 31919137 | doi = 10.1158/1078-0432.CCR-19-0098 | doi-access = free }}</ref>結直腸、<ref>{{cite journal | vauthors = Prévostel C, Blache P | title = The dose-dependent effect of SOX9 and its incidence in colorectal cancer | journal = European Journal of Cancer | volume = 86 | pages = 150–157 | date = November 2017 | pmid = 28988015 | doi = 10.1016/j.ejca.2017.08.037 }}</ref>乳腺<ref>{{cite journal | vauthors = Grimm D, Bauer J, Wise P, Krüger M, Simonsen U, Wehland M, Infanger M, Corydon TJ | title = The role of SOX family members in solid tumours and metastasis | journal = Seminars in Cancer Biology | volume = 67 | issue = Pt 1 | pages = 122–153 | date = December 2020 | pmid = 30914279 | doi = 10.1016/j.semcancer.2019.03.004 | hdl-access = free | doi-access = free | hdl = 21.11116/0000-0007-D3EE-F }}</ref>和其他癌症中誘導侵襲性和治療抵抗性，從而促進致命的轉移。<ref>{{cite journal | vauthors = Aguilar-Medina M, Avendaño-Félix M, Lizárraga-Verdugo E, Bermúdez M, Romero-Quintana JG, Ramos-Payan R, Ruíz-García E, López-Camarillo C | title = SOX9 Stem-Cell Factor: Clinical and Functional Relevance in Cancer | journal = Journal of Oncology | volume = 2019 | pages = 6754040 | date = 2019 | pmid = 31057614 | pmc = 6463569 | doi = 10.1155/2019/6754040 | doi-access = free }}</ref>SOX9的許多這些致癌效應似乎是劑量依賴的。<ref>{{cite journal | vauthors = Yang X, Liang R, Liu C, Liu JA, Cheung MP, Liu X, Man OY, Guan XY, Lung HL, Cheung M | title = SOX9 is a dose-dependent metastatic fate determinant in melanoma | journal = Journal of Experimental & Clinical Cancer Research | volume = 38 | issue = 1 | pages = 17 | date = January 2019 | pmid = 30642390 | pmc = 6330758 | doi = 10.1186/s13046-018-0998-6 | doi-access = free }}</ref><ref name="Transient Sox9 Expression Facilitat"/><ref name="The versatile functions of Sox9 in"/>

== SOX9 的定位和動態 ==
SOX9 主要定位於細胞核中，且具有高度的流動性。對軟骨細胞系的研究顯示，近50%的 SOX9 與 DNA 結合，並且直接受到外部因素的調控。其在 DNA 上的駐留半衰期約為14秒。<ref name="pmid30465885">{{cite journal | vauthors = Govindaraj K, Hendriks J, Lidke DS, Karperien M, Post JN | title = Changes in Fluorescence Recovery After Photobleaching (FRAP) as an indicator of SOX9 transcription factor activity | journal = Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms | volume = 1862 | issue = 1 | pages = 107–117 | date = January 2019 | pmid = 30465885 | doi = 10.1016/j.bbagrm.2018.11.001 | doi-access = free }}</ref>

==在性別分化中的角色==

SOX9幫助引導SRY在性別分化中的激活。SOX9或任何相關基因的[[突變]]可能導致性別逆轉。如果SOX9激活的FGF9不存在，具有X和Y[[染色體]]的[[胎兒]]將成為女性。<ref name="Moniot"/> 如果[[Dax1|DAX1]]不存在，情況也是如此。<ref name="pmid15944188" /> 相關現象可能由於SRY在[[XX男性綜合症]]中的不尋常活動引起，通常是當它轉位到X染色體上並且其活動僅在某些細胞中被激活時。<ref name="pmid10602113">{{cite journal | vauthors = Margarit E, Coll MD, Oliva R, Gómez D, Soler A, Ballesta F | title = SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite | journal = American Journal of Medical Genetics | volume = 90 | issue = 1 | pages = 25–28 | date = January 2000 | pmid = 10602113 | doi = 10.1002/(SICI)1096-8628(20000103)90:1<25::AID-AJMG5>3.0.CO;2-5 }}</ref> SOX9的突變或缺失可能導致XY胎兒成為女性，因為SOX9是一個關鍵的效應基因，通過SRY基因作用來分化支持細胞並推動男性睾丸的形成。<ref name="Normal Levels of Sox9 Expression in"/>

==相互作用==

已顯示SOX9與[[類固醇生成因子1]]<ref name="pmid9774680" />、[[MED12]]<ref name="pmid12136106">{{cite journal | vauthors = Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P | title = SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex | journal = Nucleic Acids Research | volume = 30 | issue = 14 | pages = 3245–3252 | date = July 2002 | pmid = 12136106 | pmc = 135763 | doi = 10.1093/nar/gkf443 }}</ref>、[[MAF (gene)|MAF]]<ref name="pmid12381733">{{cite journal | vauthors = Huang W, Lu N, Eberspaecher H, De Crombrugghe B | title = A new long form of c-Maf cooperates with Sox9 to activate the type II collagen gene | url = https://archive.org/details/sim_journal-of-biological-chemistry_2002-12-27_277_52/page/50668 | journal = The Journal of Biological Chemistry | volume = 277 | issue = 52 | pages = 50668–50675 | date = December 2002 | pmid = 12381733 | doi = 10.1074/jbc.M206544200 | doi-access = free }}</ref>、[[SWI/SNF]]、[[KMT2C|MLL3]]和[[MLL4]]發生[[蛋白質交互作用|相互作用]]。<ref>{{cite journal | vauthors = Yang Y, Gomez N, Infarinato N, Adam RC, Sribour M, Baek I, Laurin M, Fuchs E | title = The pioneer factor SOX9 competes for epigenetic factors to switch stem cell fates | journal = Nature Cell Biology | volume = 25 | issue = 8 | pages = 1185–1195 | date = August 2023 | pmid = 37488435 | pmc = 10415178 | doi = 10.1038/s41556-023-01184-y | doi-access = free }}</ref>

== 基因剔除模型 ==
SOX9的功能喪失突變可能導致彎曲肢體發育不全症（CD），這是由於影響蛋白質功能的突變和破壞基因表達的易位。已經有SOX9基因剔除小鼠顯示出中風恢復的改善，特別是在抑制如NOGO和硫酸軟骨素蛋白聚糖（CSPGs）等軸突萌芽抑制劑時。SOX9的去除導致CSPG水平降低，這增加了組織保護並改善了中風後的神經恢復。這些SOX9基因剔除小鼠促進修復性軸突萌芽、神經保護和中風後的恢復。<ref>{{cite journal | vauthors = Xu X, Bass B, McKillop WM, Mailloux J, Liu T, Geremia NM, Hryciw T, Brown A | title = Sox9 knockout mice have improved recovery following stroke | journal = Experimental Neurology | volume = 303 | pages = 59–71 | date = May 2018 | pmid = 29425963 | doi = 10.1016/j.expneurol.2018.02.001 }}</ref>

== 參見 ==

* [[SOX基因家族]]

== 進一步閱讀 ==

{{refbegin | 2}}
* {{cite journal | vauthors = Ninomiya S, Narahara K, Tsuji K, Yokoyama Y, Ito S, Seino Y | title = Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation | journal = American Journal of Medical Genetics | volume = 56 | issue = 1 | pages = 31–34 | date = March 1995 | pmid = 7747782 | doi = 10.1002/ajmg.1320560109 }}
* {{cite journal | vauthors = Lefebvre V, de Crombrugghe B | title = Toward understanding SOX9 function in chondrocyte differentiation | journal = Matrix Biology | volume = 16 | issue = 9 | pages = 529–540 | date = March 1998 | pmid = 9569122 | doi = 10.1016/S0945-053X(98)90065-8 }}
* {{cite book | author=Harley VR |title=The Genetics and Biology of Sex Determination |chapter=The Molecular Action of Testis-Determining Factors SRY and SOX9 |volume=244 |pages= 57–66; discussion 66–7, 79–85, 253–7 |year= 2002 |pmid= 11990798 |doi=10.1002/0470868732.ch6 |series=Novartis Foundation Symposia |isbn=9780470843468 }}
* {{cite journal | vauthors = Kwok C, Weller PA, Guioli S, Foster JW, Mansour S, Zuffardi O, Punnett HH, Dominguez-Steglich MA, Brook JD, Young ID | title = Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal | url = https://archive.org/details/sim_american-journal-of-human-genetics_1995-11_57_5/page/1028 | journal = American Journal of Human Genetics | volume = 57 | issue = 5 | pages = 1028–1036 | date = November 1995 | pmid = 7485151 | pmc = 1801368 }}
* {{cite journal | vauthors = Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanović M, Weissenbach J, Mansour S, Young ID, Goodfellow PN | title = Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene | url = https://archive.org/details/sim_nature-uk_1994-12-08_372_6506/page/524 | journal = Nature | volume = 372 | issue = 6506 | pages = 525–530 | date = December 1994 | pmid = 7990924 | doi = 10.1038/372525a0 | s2cid = 1472426 | bibcode = 1994Natur.372..525F }}
* {{cite journal | vauthors = Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Bricarelli FD, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W, Scherer G | title = Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9 | journal = Cell | volume = 79 | issue = 6 | pages = 1111–1120 | date = December 1994 | pmid = 8001137 | doi = 10.1016/0092-8674(94)90041-8 | s2cid = 24982682 }}
* {{cite journal | vauthors = Südbeck P, Schmitz ML, Baeuerle PA, Scherer G | title = Sex reversal by loss of the C-terminal transactivation domain of human SOX9 | journal = Nature Genetics | volume = 13 | issue = 2 | pages = 230–232 | date = June 1996 | pmid = 8640233 | doi = 10.1038/ng0696-230 | s2cid = 22617889 }}
* {{cite journal | vauthors = Cameron FJ, Hageman RM, Cooke-Yarborough C, Kwok C, Goodwin LL, Sillence DO, Sinclair AH | title = A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal | journal = Human Molecular Genetics | volume = 5 | issue = 10 | pages = 1625–1630 | date = October 1996 | pmid = 8894698 | doi = 10.1093/hmg/5.10.1625 | doi-access = free }}
* {{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 | 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 = 91–98 | 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 = 388–395 | year = 1997 | pmid = 9143916 | doi = 10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0 | s2cid = 45387678 }}
* {{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 = 10649–10654 | date = September 1998 | pmid = 9724758 | pmc = 27949 | doi = 10.1073/pnas.95.18.10649 | doi-access = free | bibcode = 1998PNAS...9510649W }}
* {{cite journal | vauthors = De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, Scherer G, Poulat F, Berta P | title = Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene | url = https://archive.org/details/sim_molecular-and-cellular-biology_1998-11_18_11/page/6652 | journal = Molecular and Cellular Biology | volume = 18 | issue = 11 | pages = 6653–6665 | 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 | title = Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia | url = https://archive.org/details/sim_journal-of-biological-chemistry_1999-08-20_274_34/page/24022 | journal = The Journal of Biological Chemistry | volume = 274 | issue = 34 | pages = 24023–24030 | date = August 1999 | pmid = 10446171 | doi = 10.1074/jbc.274.34.24023 | doi-access = free }}
* {{cite journal | vauthors = Huang W, Zhou X, Lefebvre V, de Crombrugghe B | title = Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer | url = https://archive.org/details/sim_molecular-and-cellular-biology_2000-06_20_11/page/4148 | journal = Molecular and Cellular Biology | volume = 20 | issue = 11 | pages = 4149–4158 | date = June 2000 | pmid = 10805756 | pmc = 85784 | doi = 10.1128/MCB.20.11.4149-4158.2000 }}
* {{cite journal | vauthors = Thong MK, Scherer G, Kozlowski K, Haan E, Morris L | title = Acampomelic campomelic dysplasia with SOX9 mutation | journal = American Journal of Medical Genetics | volume = 93 | issue = 5 | pages = 421–425 | date = August 2000 | pmid = 10951468 | doi = 10.1002/1096-8628(20000828)93:5<421::AID-AJMG14>3.0.CO;2-5 }}
* {{cite journal | vauthors = Ninomiya S, Yokoyama Y, Teraoka M, Mori R, Inoue C, Yamashita S, Tamai H, Funato M, Seino Y | title = A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal | journal = Clinical Genetics | volume = 58 | issue = 3 | pages = 224–227 | date = September 2000 | pmid = 11076045 | doi = 10.1034/j.1399-0004.2000.580310.x | s2cid = 28618271 }}
* {{cite journal | vauthors = Preiss S, Argentaro A, Clayton A, John A, Jans DA, Ogata T, Nagai T, Barroso I, Schafer AJ, Harley VR | title = Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation | url = https://archive.org/details/sim_journal-of-biological-chemistry_2001-07-27_276_30/page/27864 | journal = The Journal of Biological Chemistry | volume = 276 | issue = 30 | pages = 27864–27872 | date = July 2001 | pmid = 11323423 | doi = 10.1074/jbc.M101278200 | doi-access = free }}
{{refend}}

== 参考文献 ==
{{Reflist|2}}

== 外部链接 ==
* {{MeshName|SOX9+protein,+human}}
* {{UCSC genome browser|SOX9}}
* {{UCSC gene details|SOX9}}
* {{PDBe-KB2|P48436|Human Transcription factor SOX-9}}
* {{PDBe-KB2|Q04887|Mouse Transcription factor SOX-9}}

{{NLM content}}

{{性别}}
{{转录因子与细胞内受体|g4}}
[[Category:转录因子]]

SOX9 - 版本历史

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