SOX9

SOX9
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	4EUW
Identifikatori
Aliasi	SOX9
Vanjski ID-jevi	OMIM: 608160 MGI: 98371 HomoloGene: 294 GeneCards: SOX9
Lokacija gena (čovjek)
Hrom.	Hromosom 17 (čovjek)
Kraj	72,126,416 bp
Lokacija gena (miš)
Hrom.	Hromosom 11 (miš)
Kraj	112,678,586 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific; • core promoter sequence-specific DNA binding; • protein kinase activity; • protein kinase A catalytic subunit binding; • beta-catenin binding; • pre-mRNA intronic binding; • chromatin binding; • GO:0001948, GO:0016582 vezivanje za proteine; • vezivanje sa DNK; • sequence-specific DNA binding; • GO:0000975 transcription cis-regulatory region binding; • bHLH transcription factor binding; • GO:0001158 cis-regulatory region sequence-specific DNA binding; • protein heterodimerization activity; • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding;
Ćelijska komponenta	• jedro; • transcription regulator complex; • nukleoplazma; • GO:0009327 makromolekulani kompleks;
Biološki proces	• skeletal system development; • cellular response to retinoic acid; • bronchus cartilage development; • positive regulation of protein phosphorylation; • heart valve development; • limb bud formation; • GO:1903364 positive regulation of protein catabolic process; • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II; • ureter morphogenesis; • negative regulation of immune system process; • chondrocyte development; • positive regulation of cell proliferation involved in heart morphogenesis; • oligodendrocyte differentiation; • chondrocyte hypertrophy; • prostate gland development; • lung smooth muscle development; • mammary gland development; • negative regulation of ossification; • negative regulation of photoreceptor cell differentiation; • cellular response to mechanical stimulus; • intrahepatic bile duct development; • regulation of cell adhesion; • negative regulation of chondrocyte differentiation; • positive regulation of mesenchymal cell proliferation; • astrocyte fate commitment; • positive regulation of chondrocyte differentiation; • Spermatogeneza; • prostate gland morphogenesis; • negative regulation of epithelial cell proliferation; • lung epithelial cell differentiation; • chondrocyte differentiation involved in endochondral bone morphogenesis; • negative regulation of canonical Wnt signaling pathway; • endocrine pancreas development; • negative regulation of cell population proliferation; • regulation of apoptotic process; • cellular response to transforming growth factor beta stimulus; • negative regulation of mesenchymal cell apoptotic process; • chromatin remodeling; • negative regulation of myoblast differentiation; • positive regulation of branching involved in ureteric bud morphogenesis; • cell fate commitment; • GO:0009373 regulation of transcription, DNA-templated; • epidermal growth factor receptor signaling pathway; • ossification; • regulation of cell proliferation involved in tissue homeostasis; • ureter smooth muscle cell differentiation; • ERK1 and ERK2 cascade; • notochord development; • positive regulation of epithelial cell migration; • Sertoli cell differentiation; • male sex determination; • negative regulation of gene expression; • transcription, DNA-templated; • metanephric nephron tubule formation; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • heart development; • regulation of branching involved in lung morphogenesis; • ureter urothelium development; • branching involved in ureteric bud morphogenesis; • cartilage development; • Harderian gland development; • positive regulation of kidney development; • central nervous system development; • heart valve formation; • positive regulation of cartilage development; • tissue homeostasis; • metanephric tubule development; • negative regulation of biomineral tissue development; • endochondral bone morphogenesis; • trachea cartilage development; • male germ-line sex determination; • lacrimal gland development; • Notch signaling pathway; • hair follicle development; • Ćelijska diferencijacija; • ureter development; • regulation of cell cycle process; • male gonad development; • positive regulation of epithelial cell proliferation; • cell fate specification; • intestinal epithelial structure maintenance; • positive regulation of extracellular matrix assembly; • extracellular matrix organization; • negative regulation of apoptotic process; • GO:1901227 negative regulation of transcription by RNA polymerase II; • Sertoli cell development; • positive regulation of mesenchymal stem cell differentiation; • retina development in camera-type eye; • cellular response to interleukin-1; • epithelial to mesenchymal transition; • homeostasis of number of cells within a tissue; • GO:0045996 negative regulation of transcription, DNA-templated; • cAMP-mediated signaling; • cartilage condensation; • positive regulation of male gonad development; • nucleosome assembly; • negative regulation of bone mineralization; • morphogenesis of a branching epithelium; • neural crest cell development; • protein kinase B signaling; • somatic stem cell population maintenance; • otic vesicle formation; • otic vesicle development; • endocardial cushion morphogenesis; • cellular response to epidermal growth factor stimulus; • positive regulation of epithelial cell differentiation; • renal vesicle induction; • GO:1901313 positive regulation of gene expression; • regulation of epithelial cell proliferation involved in lung morphogenesis; • regulation of cell population proliferation; • heart valve morphogenesis; • cytoskeleton organization; • cochlea morphogenesis; • positive regulation of cell population proliferation; • epithelial cell proliferation involved in prostatic bud elongation; • retinal rod cell differentiation; • protein localization to nucleus; • regulation of cell differentiation; • positive regulation of phosphatidylinositol 3-kinase signaling; • cellular response to heparin; • negative regulation of epithelial cell differentiation; • epithelial tube branching involved in lung morphogenesis; • GO:0072468 Transdukcija signala; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • negative regulation of pri-miRNA transcription by RNA polymerase II; • chondrocyte differentiation; • neural crest cell fate specification; • cellular response to BMP stimulus; • cell-cell adhesion; • transcription initiation from RNA polymerase II promoter; • GO:0034622 protein-containing complex assembly; • anterior head development; • morphogenesis of an epithelium; • aortic valve morphogenesis; • Regulacija ekspresije gena;
	Izvori:Amigo / QuickGO
Ortolozi
	6662
	20682
	ENSG00000125398
	ENSMUSG00000000567
	P48436
	Q04887
	NM_000346
	NM_011448
	NP_000337
	NP_035578
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Transkripcijski faktor SOX-9 je protein koji kod ljudi kodiran genom SOX9.^[5]^[6]

Funkcija

SOX-9 prepoznaje sekvencu CCTTGAG, zajedno sa ostalim članovima DNK-vezujućih proteina klase HMG-boksa. Ispoljava se proliferirajućim, ali ne hipertrofijskim hondrocitima, što je neophodno za diferencijaciju prekursorskih ćelija u hondrocite.^[7] i, sa stereoidnim faktorom 1, regulira transkripciju gena antimelerovskog hormona antimüllerovakog hormona (AMH).^[6]

SOX-9 također ima ključnu ulogu u spolnom razvoju muškaraca; radeći sa Sf1, SOX-9 može proizvesti AMH u Sertolijevim ćelijama da inhibira stvaranje ženskog reproduktivnog sistema.^[8] Također komunicira s nekoliko drugih gena kako bi pospješio razvoj muških spolnih organa. Proces započinje kada faktor transkripcije testis-determinirajući faktor (kodiran iz regije za određivanje spola SRY Y hromosoma aktivira aktivnost SOX-9 vezivanjem za pojačivač uzvodne sekvence.^[9] Nadalje, Sox9 aktivira FGF9 i formira povratne petlje sa FGF9^[10] i PGD2.^[9] Ove petlje su važne za proizvodnju SOX-9; bez njih, SOX-9-a bi ponestalo i gotovo sigurno bi uslijedio razvoj ženke. Aktivacija FGF9 puem SOX-9 pokreće vitalne procese u razvoju muškarca, poput stvaranja testisnih vrpci i umnožavanja Sertolijevih ćelija.^[11] U razvoju mozga, njegov mišji ortolog Sox-9 inducira ekspresiju Wwp1, Wwp2 i miR-140 za regulaciju ulaska u korteksne ploče novorođenih nervnih ćelija i reguliranje grananja i stvaranje aksona u korteksnim neuronima.^[12]

Klinički značaj

Mutacije dovode do sindroma koštane malformacije zvane kampomelna displazija, često sa autosomnom reverzijom spola ^[6] i rascijepljeno nepce.^[13]

Kod ljudi, SOX9 nalazi se u „genskoj pustinji“, na poziciji 17q24. Delecije, prekidi pomoću translokacije prelomnih tačaka i jednotočkastim mutacijaama visoko konzerviranih nekodirajućih elemenata lociranih > 1 Mb iz jedinice transkripcije s obje strane SOX9, povezane su sa Pierre-Robinovom sekvencom, često sa rascjepom nepca.^[13]^[14]

Protein Sox9 sudjelovao je u pokretanju i napredovanju više solidnih tumora. funkcije Sox9 u ^[15] Njegova uloga kao glavnog regulatora morfogeneze tokom razvoja čovjeka čini ga idealnim kandidatom za perturbaciju u malignim tkivima. Konkretno, čini se da Sox9 izaziva invazivnost i otpornost na terapiju kod rakova prostati^[16] kolorektuma,^[17]dojkama^[18] i drugim kancerina, a ponekad promovira i letalne metastaze.^[19] Izleda da mnogi od ovih onkogenih efekata Sox9 ovise od doze.^[20]

Kokalizacija i dinamika SOX9-a

SOX9 je uglavnom lokaliziran u jedru i vrlo je mobilan. Studije na ćelijskoj liniji hondrocita otkrile su da je gotovo 50% SOX9-a vezano za DNK i izravno je reguliran vanjskim faktorima. Njegovo poluvrijeme boravka na DNK je ~ 14 sekundi.^[21]

Uloga u reverziji spola

Mutacije u Sox9 ili bilo koji pridruženi geni mogu izazvatireverziju pola i hermafroditizam (ili intersekse kod ljudi). Ako Fgf9, koji aktivira Sox9, nije prisutan, fetus s X i Y hromosomom može razviti ženske spolne žlijezde; isto vrijedi i ako nije prisutan Dax1.^[11] Srodni fenomeni hermafroditizma mogu biti uzrokovani neobičnom aktivnošću SRY, obično kada se translocira na X-hromosom i njegova aktivnost pokrene se samo u nekim ćelijama.^[22]

Interakcije

Dokazano je da SOX9 ima interakcije sa steroidogenim faktorom 1,^[8] MED12.^[23] and MAF.^[24]

Također pogledajte

SOX geni
SRY

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000125398 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000000567 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, et al. (juni 1993). "Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1". Nature Genetics. 4 (2): 170–4. doi:10.1038/ng0693-170. PMID 8348155.
^ ^a ^b ^c "Entrez Gene: SOX9 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)".
^ Kumar, Vinay; Abbas, Abul K.; Aster, Jon C. (2015). Robbins and Cotran pathologic basis of disease (Ninth izd.). str. 1182. ISBN 9780808924500.
^ ^a ^b De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, et al. (novembar 1998). "Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene". Molecular and Cellular Biology. 18 (11): 6653–65. doi:10.1128/mcb.18.11.6653. PMC 109250. PMID 9774680.
^ ^a ^b Moniot B, Declosmenil F, Barrionuevo F, Scherer G, Aritake K, Malki S, et al. (juni 2009). "The PGD2 pathway, independently of FGF9, amplifies SOX9 activity in Sertoli cells during male sexual differentiation". Development. 136 (11): 1813–21. doi:10.1242/dev.032631. PMC 4075598. PMID 19429785.
^ Kim Y, Kobayashi A, Sekido R, DiNapoli L, Brennan J, Chaboissier MC, et al. (juni 2006). "Fgf9 and Wnt4 act as antagonistic signals to regulate mammalian sex determination". PLOS Biology. 4 (6): e187. doi:10.1371/journal.pbio.0040187. PMC 1463023. PMID 16700629.
^ ^a ^b Bouma GJ, Albrecht KH, Washburn LL, Recknagel AK, Churchill GA, Eicher EM (juli 2005). "Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells". Development. 132 (13): 3045–54. doi:10.1242/dev.01890. PMID 15944188.
^ Ambrozkiewicz MC, Schwark M, Kishimoto-Suga M, Borisova E, Hori K, Salazar-Lázaro A, et al. (decembar 2018). "Polarity Acquisition in Cortical Neurons Is Driven by Synergistic Action of Sox9-Regulated Wwp1 and Wwp2 E3 Ubiquitin Ligases and Intronic miR-140". Neuron. 100 (5): 1097–1115.e15. doi:10.1016/j.neuron.2018.10.008. PMID 30392800.
^ ^a ^b Dixon MJ, Marazita ML, Beaty TH, Murray JC (mart 2011). "Cleft lip and palate: understanding genetic and environmental influences". Nature Reviews. Genetics. 12 (3): 167–78. doi:10.1038/nrg2933. PMC 3086810. PMID 21331089.
^ Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, et al. (mart 2009). "Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence". Nature Genetics. 41 (3): 359–64. doi:10.1038/ng.329. PMID 19234473.
^ Jo, A; Denduluri, S; Zhang, B; Wang, Z; Yin, L; Yan, Z; Kang, R; Shi, LL; Mok, J; Lee, MJ; Haydon, RC (decembar 2014). "The versatile functions of Sox9 in development, stem cells, and human diseases". Genes & Diseases. 1 (2): 149–161. doi:10.1016/j.gendis.2014.09.004. PMC 4326072. PMID 25685828.
^ 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 (9. 1. 2020). "Transient Sox9 Expression Facilitates Resistance to Androgen-Targeted Therapy in Prostate Cancer". Clinical Cancer Research. 26 (7): 1678–1689. doi:10.1158/1078-0432.CCR-19-0098. PMID 31919137.
^ Prévostel, C; Blache, P (novembar 2017). "The dose-dependent effect of SOX9 and its incidence in colorectal cancer". European Journal of Cancer. 86: 150–157. doi:10.1016/j.ejca.2017.08.037. PMID 28988015.
^ Grimm, D; Bauer, J; Wise, P; Krüger, M; Simonsen, U; Wehland, M; Infanger, M; Corydon, TJ (23. 3. 2019). "The role of SOX family members in solid tumours and metastasis". Seminars in Cancer Biology. doi:10.1016/j.semcancer.2019.03.004. PMID 30914279.
^ Aguilar-Medina, M; Avendaño-Félix, M; Lizárraga-Verdugo, E; Bermúdez, M; Romero-Quintana, JG; Ramos-Payan, R; Ruíz-García, E; López-Camarillo, C (2019). "SOX9 Stem-Cell Factor: Clinical and Functional Relevance in Cancer". Journal of Oncology. 2019: 6754040. doi:10.1155/2019/6754040. PMC 6463569. PMID 31057614.
^ Yang, X; Liang, R; Liu, C; Liu, JA; Cheung, MPL; Liu, X; Man, OY; Guan, XY; Lung, HL; Cheung, M (14. 1. 2019). "SOX9 is a dose-dependent metastatic fate determinant in melanoma". Journal of Experimental & Clinical Cancer Research : CR. 38 (1): 17. doi:10.1186/s13046-018-0998-6. PMC 6330758. PMID 30642390.
^ Govindaraj K, Hendriks J, Lidke DS, Karperien M, Post JN (januar 2019). "Changes in Fluorescence Recovery After Photobleaching (FRAP) as an indicator of SOX9 transcription factor activity". Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms. 1862 (1): 107–117. doi:10.1016/j.bbagrm.2018.11.001. PMID 30465885.
^ Margarit E, Coll MD, Oliva R, Gómez D, Soler A, Ballesta F (januar 2000). "SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite". American Journal of Medical Genetics. 90 (1): 25–8. doi:10.1002/(SICI)1096-8628(20000103)90:1<25::AID-AJMG5>3.0.CO;2-5. PMID 10602113.
^ Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, et al. (juli 2002). "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex". Nucleic Acids Research. 30 (14): 3245–52. doi:10.1093/nar/gkf443. PMC 135763. PMID 12136106.
^ Huang W, Lu N, Eberspaecher H, De Crombrugghe B (decembar 2002). "A new long form of c-Maf cooperates with Sox9 to activate the type II collagen gene". The Journal of Biological Chemistry. 277 (52): 50668–75. doi:10.1074/jbc.M206544200. PMID 12381733.

Dopunska literatura

Ninomiya S, Narahara K, Tsuji K, Yokoyama Y, Ito S, Seino Y (mart 1995). "Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation". American Journal of Medical Genetics. 56 (1): 31–4. doi:10.1002/ajmg.1320560109. PMID 7747782.
Lefebvre V, de Crombrugghe B (mart 1998). "Toward understanding SOX9 function in chondrocyte differentiation". Matrix Biology. 16 (9): 529–40. doi:10.1016/S0945-053X(98)90065-8. PMID 9569122.
Harley VR (2002). The molecular action of testis-determining factors SRY and SOX9. Novartis Found. Symp. Novartis Foundation Symposia. 244. str. 57–66, discussion 66–7, 79–85, 253–7. doi:10.1002/0470868732.ch6. ISBN 9780470843468. PMID 11990798.
Kwok C, Weller PA, Guioli S, Foster JW, Mansour S, Zuffardi O, et al. (novembar 1995). "Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal". American Journal of Human Genetics. 57 (5): 1028–36. PMC 1801368. PMID 7485151.
Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanović M, et al. (decembar 1994). "Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene". Nature. 372 (6506): 525–30. Bibcode:1994Natur.372..525F. doi:10.1038/372525a0. PMID 7990924.
Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, et al. (decembar 1994). "Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9". Cell. 79 (6): 1111–20. doi:10.1016/0092-8674(94)90041-8. PMID 8001137.
Südbeck P, Schmitz ML, Baeuerle PA, Scherer G (juni 1996). "Sex reversal by loss of the C-terminal transactivation domain of human SOX9". Nature Genetics. 13 (2): 230–2. doi:10.1038/ng0696-230. PMID 8640233.
Cameron FJ, Hageman RM, Cooke-Yarborough C, Kwok C, Goodwin LL, Sillence DO, Sinclair AH (oktobar 1996). "A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal". Human Molecular Genetics. 5 (10): 1625–30. doi:10.1093/hmg/5.10.1625. PMID 8894698.
Meyer J, Südbeck P, Held M, Wagner T, Schmitz ML, Bricarelli FD, et al. (januar 1997). "Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations". Human Molecular Genetics. 6 (1): 91–8. doi:10.1093/hmg/6.1.91. PMID 9002675.
Cameron FJ, Sinclair AH (1997). "Mutations in SRY and SOX9: testis-determining genes". Human Mutation. 9 (5): 388–95. doi:10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0. PMID 9143916.
Wunderle VM, Critcher R, Hastie N, Goodfellow PN, Schedl A (septembar 1998). "Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia". Proceedings of the National Academy of Sciences of the United States of America. 95 (18): 10649–54. Bibcode:1998PNAS...9510649W. doi:10.1073/pnas.95.18.10649. PMC 27949. PMID 9724758.
De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, et al. (novembar 1998). "Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene". Molecular and Cellular Biology. 18 (11): 6653–65. doi:10.1128/mcb.18.11.6653. PMC 109250. PMID 9774680.
McDowall S, Argentaro A, Ranganathan S, Weller P, Mertin S, Mansour S, et al. (august 1999). "Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia". The Journal of Biological Chemistry. 274 (34): 24023–30. doi:10.1074/jbc.274.34.24023. PMID 10446171.
Huang W, Zhou X, Lefebvre V, de Crombrugghe B (juni 2000). "Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer". Molecular and Cellular Biology. 20 (11): 4149–58. doi:10.1128/MCB.20.11.4149-4158.2000. PMC 85784. PMID 10805756.
Thong MK, Scherer G, Kozlowski K, Haan E, Morris L (august 2000). "Acampomelic campomelic dysplasia with SOX9 mutation". American Journal of Medical Genetics. 93 (5): 421–5. doi:10.1002/1096-8628(20000828)93:5<421::AID-AJMG14>3.0.CO;2-5. PMID 10951468.
Ninomiya S, Yokoyama Y, Teraoka M, Mori R, Inoue C, Yamashita S, et al. (septembar 2000). "A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal". Clinical Genetics. 58 (3): 224–7. doi:10.1034/j.1399-0004.2000.580310.x. PMID 11076045.
Preiss S, Argentaro A, Clayton A, John A, Jans DA, Ogata T, et al. (juli 2001). "Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation". The Journal of Biological Chemistry. 276 (30): 27864–72. doi:10.1074/jbc.M101278200. PMID 11323423.

Vanjski linkovi

SOX9 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
SOX9 lokacija ljudskog genoma UCSC Genome Browser.

SOX9 detalji ljudskog genoma u UCSC Genome Browser.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000125398 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000000567 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8348155-5] Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, et al. (juni 1993). "Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1". Nature Genetics. 4 (2): 170–4. doi:10.1038/ng0693-170. PMID 8348155.

[entrez-6] "Entrez Gene: SOX9 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)".

[7] Kumar, Vinay; Abbas, Abul K.; Aster, Jon C. (2015). Robbins and Cotran pathologic basis of disease (Ninth izd.). str. 1182. ISBN 9780808924500.

[pmid9774680-8] De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, et al. (novembar 1998). "Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene". Molecular and Cellular Biology. 18 (11): 6653–65. doi:10.1128/mcb.18.11.6653. PMC 109250. PMID 9774680.

[Moniot-9] Moniot B, Declosmenil F, Barrionuevo F, Scherer G, Aritake K, Malki S, et al. (juni 2009). "The PGD2 pathway, independently of FGF9, amplifies SOX9 activity in Sertoli cells during male sexual differentiation". Development. 136 (11): 1813–21. doi:10.1242/dev.032631. PMC 4075598. PMID 19429785.

[pmid16700629-10] Kim Y, Kobayashi A, Sekido R, DiNapoli L, Brennan J, Chaboissier MC, et al. (juni 2006). "Fgf9 and Wnt4 act as antagonistic signals to regulate mammalian sex determination". PLOS Biology. 4 (6): e187. doi:10.1371/journal.pbio.0040187. PMC 1463023. PMID 16700629.

[pmid15944188-11] Bouma GJ, Albrecht KH, Washburn LL, Recknagel AK, Churchill GA, Eicher EM (juli 2005). "Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells". Development. 132 (13): 3045–54. doi:10.1242/dev.01890. PMID 15944188.

[12] Ambrozkiewicz MC, Schwark M, Kishimoto-Suga M, Borisova E, Hori K, Salazar-Lázaro A, et al. (decembar 2018). "Polarity Acquisition in Cortical Neurons Is Driven by Synergistic Action of Sox9-Regulated Wwp1 and Wwp2 E3 Ubiquitin Ligases and Intronic miR-140". Neuron. 100 (5): 1097–1115.e15. doi:10.1016/j.neuron.2018.10.008. PMID 30392800.

[Dixon_2011-13] Dixon MJ, Marazita ML, Beaty TH, Murray JC (mart 2011). "Cleft lip and palate: understanding genetic and environmental influences". Nature Reviews. Genetics. 12 (3): 167–78. doi:10.1038/nrg2933. PMC 3086810. PMID 21331089.

[pmid19234473-14] Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, et al. (mart 2009). "Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence". Nature Genetics. 41 (3): 359–64. doi:10.1038/ng.329. PMID 19234473.

[15] Jo, A; Denduluri, S; Zhang, B; Wang, Z; Yin, L; Yan, Z; Kang, R; Shi, LL; Mok, J; Lee, MJ; Haydon, RC (decembar 2014). "The versatile functions of Sox9 in development, stem cells, and human diseases". Genes & Diseases. 1 (2): 149–161. doi:10.1016/j.gendis.2014.09.004. PMC 4326072. PMID 25685828.

[Transient_Sox9_Expression_Facilitat-16] 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 (9. 1. 2020). "Transient Sox9 Expression Facilitates Resistance to Androgen-Targeted Therapy in Prostate Cancer". Clinical Cancer Research. 26 (7): 1678–1689. doi:10.1158/1078-0432.CCR-19-0098. PMID 31919137.

[17] Prévostel, C; Blache, P (novembar 2017). "The dose-dependent effect of SOX9 and its incidence in colorectal cancer". European Journal of Cancer. 86: 150–157. doi:10.1016/j.ejca.2017.08.037. PMID 28988015.

[18] Grimm, D; Bauer, J; Wise, P; Krüger, M; Simonsen, U; Wehland, M; Infanger, M; Corydon, TJ (23. 3. 2019). "The role of SOX family members in solid tumours and metastasis". Seminars in Cancer Biology. doi:10.1016/j.semcancer.2019.03.004. PMID 30914279.

[19] Aguilar-Medina, M; Avendaño-Félix, M; Lizárraga-Verdugo, E; Bermúdez, M; Romero-Quintana, JG; Ramos-Payan, R; Ruíz-García, E; López-Camarillo, C (2019). "SOX9 Stem-Cell Factor: Clinical and Functional Relevance in Cancer". Journal of Oncology. 2019: 6754040. doi:10.1155/2019/6754040. PMC 6463569. PMID 31057614.

[20] Yang, X; Liang, R; Liu, C; Liu, JA; Cheung, MPL; Liu, X; Man, OY; Guan, XY; Lung, HL; Cheung, M (14. 1. 2019). "SOX9 is a dose-dependent metastatic fate determinant in melanoma". Journal of Experimental & Clinical Cancer Research : CR. 38 (1): 17. doi:10.1186/s13046-018-0998-6. PMC 6330758. PMID 30642390.

[pmid30465885-21] Govindaraj K, Hendriks J, Lidke DS, Karperien M, Post JN (januar 2019). "Changes in Fluorescence Recovery After Photobleaching (FRAP) as an indicator of SOX9 transcription factor activity". Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms. 1862 (1): 107–117. doi:10.1016/j.bbagrm.2018.11.001. PMID 30465885.

[pmid10602113-22] Margarit E, Coll MD, Oliva R, Gómez D, Soler A, Ballesta F (januar 2000). "SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite". American Journal of Medical Genetics. 90 (1): 25–8. doi:10.1002/(SICI)1096-8628(20000103)90:1<25::AID-AJMG5>3.0.CO;2-5. PMID 10602113.

[pmid12136106-23] Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, et al. (juli 2002). "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex". Nucleic Acids Research. 30 (14): 3245–52. doi:10.1093/nar/gkf443. PMC 135763. PMID 12136106.

[pmid12381733-24] Huang W, Lu N, Eberspaecher H, De Crombrugghe B (decembar 2002). "A new long form of c-Maf cooperates with Sox9 to activate the type II collagen gene". The Journal of Biological Chemistry. 277 (52): 50668–75. doi:10.1074/jbc.M206544200. PMID 12381733.

[5]

[6]

[1]

[2]

[3]

[4]

[7]

[8]

[9]

[10]

[11]

[12]

[13]

[14]

[15]

[16]

[17]

[18]

[19]

[20]

[21]

[22]

[23]

[24]