[1] BARRIONUEVO F, SCHERER G. SOX E genes:SOX9 and SOX8 in mammalian testis development[J]. Int J Biochem Cell Biol, 2010, 42(3):433-436.
[2] LIAO J Y, HU N, ZHOU N, et al. SOX9 potentiates BMP2-induced chondrogenic differentiation and inhibits BMP2-induced osteogenic differentiation[J]. PLoS One, 2014, 9(2):e89025.
[3] BI W M, DENG J M, ZHANG Z P, et al. SOX9 is required for cartilage formation[J]. Nat Genet, 1999, 22(1):85-89.
[4] VONG K I, LEUNG C K Y, BEHRINGER R R, et al. SOX9 is critical for suppression of neurogenesis but not initiation of gliogenesis in the cerebellum[J]. Mol Brain, 2015, 8:25.
[5] MCDONALD E, LI J M, KRISHNAMURTHY M, et al. SOX9 regulates endocrine cell differentiation during human fetal pancreas development[J]. Int J Biochem Cell Biol, 2012, 44(1):72-83.
[6] KIMURA M S, MUTOH H, SUGANO K. SOX9 is expressed in normal stomach, intestinal metaplasia, and gastric carcinoma in humans[J]. J Gastroenterol, 2011, 46(11):1292-1299.
[7] MATHEU A, COLLADO M, WISE C, et al. Oncogenicity of the developmental transcription factor SOX9[J]. Cancer Res, 2012, 72(5):1301-1315.
[8] QIN Y J, BISHOP C E. SOX9 is sufficient for functional testis development producing fertile male mice in the absence of SRY[J]. Hum Mol Genet, 2005, 14(9):1221-1229.
[9] QIN Y J, KONG L K, POIRIER C, et al. Long-range activation of SOX9 in Odd Sex (Ods) mice[J]. Hum Mol Genet, 2004, 13(12):1213-1218.
[10] BARRIONUEVO F, BAGHERI-FAM S, KLATTIG J, et al. Homozygous inactivation of SOX9 causes complete XY sex reversal in mice[J]. Biol Reprod, 2006, 74(1):195-201.
[11] FRÖJDMAN K, HARLEY V R, PELLINIEMI L J. SOX9 protein in rat Sertoli cells is age and stage dependent[J]. Histochem Cell Biol, 2000, 113(1):31-36.
[12] DAIGLE M, ROUMAUD P, MARTIN L J. Expressions of SOX9, SOX5, and SOX13 transcription factors in mice testis during postnatal development[J]. Mol Cell Biochem, 2015, 407(1-2):209-221.
[13] JIMÉNEZ R, BARRIONUEVO F J, BURGOS M. Natural exceptions to normal gonad development in mammals[J]. Sex Dev, 2012, 7(1-3):147-162.
[14] SVINGEN T, KOOPMAN P. Building the mammalian testis:origins, differentiation, and assembly of the component cell populations[J]. Gene Dev, 2013, 27(22):2409-2426.
[15] ORVIS G D, BEHRINGER R R. Cellular mechanisms of Müllerian duct formation in the mouse[J]. Dev Biol, 2007, 306(2):493-504.
[16] SEKIDO R, LOVELL-BADGE R. Genetic control of testis development[J]. Sex Dev, 2013, 7:21-32.
[17] SÁNCHEZ L, CHAOUIYA C. Primary sex determination of placental mammals:a modelling study uncovers dynamical developmental constraints in the formation of Sertoli and granulosa cells[J]. BMC Syst Biol, 2016, 10:37.
[18] ALBRECHT K H, EICHER E M. Evidence that Sry is expressed in pre-Sertoli cells and Sertoli and granulosa cells have a common precursor[J]. Dev Biol, 2001, 240(1):92-107.
[19] LI Y M, ZHENG M, LAU Y F C. The sex-determining factors SRY and SOX9 regulate similar target genes and promote testis cord formation during testicular differentiation[J]. Cell Rep, 2014, 8(3):723-733.
[20] CANNING C A, LOVELL-BADGE R. SRY and sex determination:how lazy can it be?[J]. Trends Genet, 2002, 18(3):111-113.
[21] WAGNER T, WIRTH J, MEYER J, et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9[J]. Cell, 1994, 79(6):1111-1120.
[22] LECOINTRE C, PICHON O, HAMEL A, et al. Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9[J]. Am J Med Genet A, 2009, 149A(6):1183-1189.
[23] YAO B J,WANG Q Q,LIU C F,t al. The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers[J]. Nucleic Acids Res, 2015, 43(11):5394-5408.
[24] MANSOUR S,HALL C M,PEMBREY M E,et al.A clinical and genetic study of campomelic dysplasia[J]. J Med Genet, 1995, 32(6):415-420.
[25] BARRIONUEVO F J,BURGOS M,SCHERER G,et al.Genes promoting and disturbing testis development[J]. Histol Histopathol, 2012, 27(11):1361-1383.
[26] FOSTER J W,DOMINGUEZ-STEGLICH M A,GUIOLI S,et al.Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene[J].Nature,1994, 372(6506):525-530.
[27] 江玲霞. 猪SOX9基因cDNA的全长克隆及功能预测[D].南京:南京农业大学, 2008.
JIANG L X. Cloning and function prediction of the full-length cDNA of porcine SOX9 gene[D]. Nanjing:Nanjing Agricultural University, 2008. (in Chinese)
[28] 徐 超. 牛SOX9基因的克隆及早期胎儿性别相关基因的表达分析[D]. 北京:中国农业科学院, 2010.
XU C. Bovine SOX9 cloning and analysis of sex-related gene expression in early fetus[D]. Beijing:Chinese Academy of Agricultural Sciences, 2010. (in Chinese)
[29] BERNARD P, TANG P S, LIU S Y, et al. Dimerization of SOX9 is required for chondrogenesis, but not for sex determination[J]. Hum Mol Genet, 2003, 12(14):1755-1765.
[30] MCDOWALL S, ARGENTARO A, RANGANATHAN S, et al. Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia[J].J Biol Chem,1999,274(34):24023-24030.
[31] HUANG W D,ZHOU X,LEFEBVRE V,et al. Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer[J]. Mol Cell Biol, 2000, 20(11):4149-4158.
[32] SÜDBECK P, SCHERER G. Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9[J]. J Biol Chem, 1997, 272(44):27848-27852.
[33] PREISS S, ARGENTARO A, CLAYTON A, et al. Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation[J]. J Biol Chem, 2001, 276(30):27864-27872.
[34] KASHIMADA K, KOOPMAN P. SRY:the master switch in mammalian sex determination[J]. Development, 2010, 137(23):3921-3930.
[35] TEVOSIAN S G, ALBRECHT K H, CRISPINO J D, et al. Gonadal differentiation, sex determination and normal SRY expression in mice require direct interaction between transcription partners GATA4 and FOG2[J]. Development, 2002, 129(19):4627-4634.
[36] KIDOKORO T, MATOBA S, HIRAMATSU R, et al. Influence on spatiotemporal patterns of a male-specific SOX9 activation by ectopic SRY expression during early phases of testis differentiation in mice[J]. Dev Biol, 2005, 278(2):511-525.
[37] DE SANTA BARBARA P, MONIOT B, POULAT F, et al. Expression and subcellular localization of SF-1, SOX9, WT1, and AMH proteins during early human testicular development[J]. Dev Dyn, 2000, 217(3):293-298.
[38] SEKIDO R, LOVELL-BADGE R. Sex determination and SRY:down to a wink and a nudge?[J]. Trends Genet, 2009, 25(1):19-29.
[39] SEKIDO R, LOVELL-BADGE R. Sex determination involves synergistic action of SRY and SF1 on a specific SOX9 enhancer[J]. Nature, 2008, 453(7197):930-934.
[40] LUDBROOK L M, BERNARD P, BAGHERI-FAM S, et al. Excess DAX1 leads to XY ovotesticular disorder of sex development (DSD) in mice by inhibiting steroidogenic factor-1 (SF1) activation of the testis enhancer of SRY-box-9 (SOX9)[J]. Endocrinology, 2012, 153(4):1948-1958.
[41] COLÜIN J S, GREEN R P, SCHMAHL J, et al. Male-to-female sex reversal in mice lacking fibroblast growth factor 9[J]. Cell, 2001, 104(6):875-889.
[42] KIM Y, KOBAYASHI A, SEKIDO R, et al. Fgf9 and Wnt4 act as antagonistic signals to regulate mammalian sex determination[J]. PLoS Biol, 2006, 4(6):e187.
[43] MONIOT B, DECLOSMENIL F, BARRIONUEVO F, et al. The PGD2 pathway, independently of FGF9, amplifies SOX9 activity in Sertoli cells during male sexual differentiation[J]. Development, 2009, 136(11):1813-1821.
[44] LOVELL-BADGE R, GONEN N, SAMSON S, et al. Regulation of SOX9 in the gonad during sex determination[J]. Transgenic Res, 2016, 25(2):216.
[45] BEHRINGER R R, CATE R L, FROELICK G J, et al. Abnormal sexual development in transgenic mice chronically expressing Müllerian inhibiting substance[J]. Nature, 1990, 345(6271):167-170.
[46] RODRÍGUEZ-MARÍ A, YAN Y L, BREMILLER R A, et al. Characterization and expression pattern of zebrafish anti-Müllerian hormone (amh) relative to SOX9a, SOX9b, and CYP19a1a, during gonad development[J]. Gene Expr Patterns, 2005, 5(5):655-667.
[47] ARANGO N A, LOVELL-BADGE R, BEHRINGER R R. Targeted mutagenesis of the endogenous mouse Mis gene promoter:in vivo definition of genetic pathways of vertebrate sexual development[J]. Cell, 1999, 99(4):409-419.
[48] VIDAL V P I, CHABOISSIER M C, DE-ROOIJ D G, et al. SOX9 induces testis development in XX transgenic mice[J]. Nat Genet, 2001, 28(3):216-217.
[49] COX J J, WILLATT L, HOMFRAY T, et al. A SOX9 duplication and familial 46, XX developmental testicular disorder[J]. N Engl J Med, 2011, 364(1):91-93.
[50] KIM G J, SOCK E, BUCHBERGER A, et al. Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46, XY or 46, XX disorder of sex development[J]. J Med Genet, 2015, 52(4):240-247.
[51] ARBOLEDA V A, FLEMING A, BARSEGHYAN H, et al. Regulation of sex determination in mice by a non-coding genomic region[J]. Genetics, 2014, 197(3):885-897.
[52] GAO X F, CHEN G A, HUANG J, et al. Clinical, cytogenetic, and molecular analysis with 46, XX male sex reversal syndrome:case reports[J]. J Assist Reprod Genet, 2013, 30(3):431-435.
[53] MENDONCA B B, DOMENICE S, ARNHOLD I J, et al. 46, XY disorders of sex development (DSD)[J]. Clin Endocrinol, 2009, 70(2):173-187.
[54] CHIANG E F L, PAI C I, WYATT M, et al. Two SOX9 genes on duplicated zebrafish chromosomes:expression of similar transcription activators in distinct sites[J]. Dev Biol, 2001, 231(1):149-163.
[55] ADOLFI M C, CARREIRA A C, JESUS L W, et al. Molecular cloning and expression analysis of dmrt1 and SOX9 during gonad development and male reproductive cycle in the lambari fish, Astyanax altiparanae[J]. Reprod Biol Endocrinol, 2015, 13:2.
[56] 李讨讨, 马友记, 卢曾奎, 等. SOX9基因在绵羊不同组织中的表达及其在睾丸中的定位[J]. 农业生物技术学报, 2016, 24(10):1529-1535.
LI T T, MA Y J, LU Z K, et al. Expression of SOX9 gene in different tissues and localization in testis of sheep (Ovis aires)[J]. Journal of Agricultural Biotechnology, 2016, 24(10):1529-1535. (in Chinese)
[57] BANCO B, PALMIERI C, SIRONI G, et al. Immunohistochemical expression of SOX9 protein in immature, mature, and neoplastic canine Sertoli cells[J]. Theriogenology, 2016, 85(8):1408-1414.
[58] BARRIONUEVO F, GEORG I, SCHERTHAN H, et al. Testis cord differentiation after the sex determination stage is independent of SOX9 but fails in the combined absence of SOX9 and SOX8[J]. Dev Biol, 2009, 327(2):301-312.
[59] 李 振, 任有蛇, 焦光月, 等. 雄激素受体基因在绵羊公羔不同组织中的表达特性及性腺中的定位[J]. 畜牧兽医学报, 2013, 44(8):1251-1257.
LI Z, REN Y S, JIAO G Y, et al. The expression of androgen receptor gene in different tissues and cellular localization in gonad of male sheep lambs[J]. Acta Veterinaria et Zootechnica Sinica, 2013, 44(8):1251-1257. (in Chinese)
[60] 梁洺源,朱化彬,陈晓丽,等.支持细胞调控精原干细胞增殖、分化和凋亡的研究进展[J].畜牧兽医学报, 2016, 47(2):225-231.
LIANG M Y, ZHU H B, CHEN X L, et al. The study progress of the proliferation, differentiation and apoptosis of spermatogonial stem cells under the regulation of sertoli cells[J]. Acta Veterinaria et Zootechnica Sinica, 2016, 47(2):225-231. (in Chinese)
[61] CHEN S R, LIU Y X. Regulation of spermatogonial stem cell self-renewal and spermatocyte meiosis by Sertoli cell signaling[J]. Reproduction, 2015, 149(4):R159-R167.
[62] ZHANG R, SUN J, ZOU K. Advances in isolation methods for spermatogonial stem cells[J]. Stem Cell Rev Rep, 2016, 12(1):15-25. |