Sry: the master switch in mammalian sex determination

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

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Male development of chromosomally female mice transgenic for Sry

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A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes

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Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

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Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

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A SEX-CHROMOSOME ANOMALY IN A CASE OF GONADAL DYSGENESIS (TURNER'S SYNDROME)

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A Case of Human Intersexuality Having a Possible XXY Sex-Determining Mechanism

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Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

Sekido, R., & Lovell-Badge, R. (2008) · Nature · doi:10.1038/nature06944 · Cited by 969

Phylogeny of the SOX Family of Developmental Transcription Factors Based on Sequence and Structural Indicators

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Expression of a candidate sex-determining gene during mouse testis differentiation

Koopman, P., Münsterberg, A., Capel, B., Vivian, N., & Lovell-Badge, R. (1990) · Nature · doi:10.1038/348450a0 · Cited by 848

Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds

da Silva, S. M., Hacker, A., Harley, V., Goodfellow, P., Swain, A., & Lovell-Badge, R. (1996) · Nature Genetics · doi:10.1038/ng0996-62 · Cited by 795

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

Barbaux, S., Niaudet, P., Gubler, M.-C., Grünfeld, J.-P., Jaubert, F., Kuttenn, F., Fékété, C. N., Souleyreau-Therville, N., Thibaud, E., Fellous, M., et al. (1997) · Nature Genetics · doi:10.1038/ng1297-467 · Cited by 751

A male-specific role for SOX9 in vertebrate sex determination

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Sox9 induces testis development in XX transgenic mice

Vidal, V. P. I., Chaboissier, M.-C., de Rooij, D. G., & Schedl, A. (2001) · Nature Genetics · doi:10.1038/90046 · Cited by 679

The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos

Wright, E., Hargrave, M. R., Christiansen, J., Cooper, L., Kun, J., Evans, T., Gangadharan, U., Greenfield, A., & Koopman, P. (1995) · Nature Genetics · doi:10.1038/ng0195-15 · Cited by 659

Direct Interaction of SRY-Related Protein SOX9 and Steroidogenic Factor 1 Regulates Transcription of the Human Anti-Müllerian Hormone Gene

De Santa Barbara, P., Bonneaud, N., Boizet, B., Desclozeaux, M., Moniot, B., Sudbeck, P., Scherer, G., Poulat, F., & Berta, P. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.11.6653 · Cited by 604

Sex Chromosome Specialization and Degeneration in Mammals

Graves, J. A. M. (2006) · Cell · doi:10.1016/j.cell.2006.02.024 · Cited by 591

Male-to-Female Sex Reversal in Mice Lacking Fibroblast Growth Factor 9

Colvin, J. S., Green, R. P., Schmahl, J., Capel, B., & Ornitz, D. M. (2001) · Cell · doi:10.1016/s0092-8674(01)00284-7 · Cited by 588

Fgf9 and Wnt4 Act as Antagonistic Signals to Regulate Mammalian Sex Determination

Kim, Y., Kobayashi, A., Sekido, R., DiNapoli, L., Brennan, J., Chaboissier, M.-C., Poulat, F., Behringer, R. R., Lovell-Badge, R., & Capel, B. (2006) · PLoS Biology · doi:10.1371/journal.pbio.0040187 · Cited by 574

Expression of Sry, the mouse sex determining gene

Hacker, A., Capel, B., Goodfellow, P., & Lovell-Badge, R. (1995) · Development · doi:10.1242/dev.121.6.1603 · Cited by 570

Functional analysis of Sox8 and Sox9 during sex determination in the mouse

Chaboissier, M.-C., Kobayashi, A., Vidal, V. I. P., Lützkendorf, S., van de Kant, H. J. G., Wegner, M., de Rooij, D. G., Behringer, R. R., & Schedl, A. (2004) · Development · doi:10.1242/dev.01087 · Cited by 558

Two Splice Variants of the Wilms' Tumor 1 Gene Have Distinct Functions during Sex Determination and Nephron Formation

Hammes, A., Guo, J.-K., Lutsch, G., Leheste, J.-R., Landrock, D., Ziegler, U., Gubler, M.-C., & Schedl, A. (2001) · Cell · doi:10.1016/s0092-8674(01)00453-6 · Cited by 541

Autosomal XX sex reversal caused by duplication ofSOX9

Huang, B., Wang, S., Ning, Y., Lamb, A. N., & Bartley, J. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19991203)87:4<349::aid-ajmg13>3.0.co;2-n · Cited by 430

Gonadal differentiation, sex determination and normal Sry expression in mice require direct interaction between transcription partners GATA4 and FOG2

Tevosian, S. G., Albrecht, K. H., Crispino, J. D., Fujiwara, Y., Eicher, E. M., & Orkin, S. H. (2002) · Development · doi:10.1242/dev.129.19.4627 · Cited by 369

Homozygous Inactivation of Sox9 Causes Complete XY Sex Reversal in Mice1

Barrionuevo, F., Bagheri-Fam, S., Klattig, J., Kist, R., Taketo, M. M., Englert, C., & Scherer, G. (2006) · Biology of Reproduction · doi:10.1095/biolreprod.105.045930 · Cited by 366

Stabilization of β-catenin in XY gonads causes male-to-female sex-reversal

Maatouk, D. M., DiNapoli, L., Alvers, A., Parker, K. L., Taketo, M. M., & Capel, B. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn193 · Cited by 361

A transgenic insertion upstream of Sox9 is associated with dominant XX sex reversal in the mouse

Bishop, C. E., Whitworth, D. J., Qin, Y., Agoulnik, A. I., Agoulnik, I. U., Harrison, W. R., Behringer, R. R., & Overbeek, P. A. (2000) · Nature Genetics · doi:10.1038/82652 · Cited by 357

SOX9 is up-regulated by the transient expression of SRY specifically in Sertoli cell precursors

Sekido, R., Bar, I., Narváez, V., Penny, G., & Lovell-Badge, R. (2004) · Developmental Biology · doi:10.1016/j.ydbio.2004.07.011 · Cited by 351

Male-specific cell migration into the developing gonad

Martineau, J., Nordqvist, K., Tilmann, C., Lovell-Badge, R., & Capel, B. (1997) · Current Biology · doi:10.1016/s0960-9822(06)00415-5 · Cited by 350

Direct Regulation of Adult Brain Function by the Male-Specific Factor SRY

Dewing, P., Chiang, C. W. K., Sinchak, K., Sim, H., Fernagut, P.-O., Kelly, S., Chesselet, M.-F., Micevych, P. E., Albrecht, K. H., Harley, V. R., et al. (2006) · Current Biology · doi:10.1016/j.cub.2006.01.017 · Cited by 327

SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development

Hanley, N. A., Hagan, D. M., Clement-Jones, M., Ball, S. G., Strachan, T., Salas-Cortés, L., McElreavey, K., Lindsay, S., Robson, S., Bullen, P., et al. (2000) · Mechanisms of Development · doi:10.1016/s0925-4773(99)00307-x · Cited by 324

Male-to-female sex reversal in M33 mutant mice

Katoh-Fukui, Y., Tsuchiya, R., Shiroishi, T., Nakahara, Y., Hashimoto, N., Noguchi, K., & Higashinakagawa, T. (1998) · Nature · doi:10.1038/31482 · Cited by 313

In situ analysis of fetal, prepuberal and adult XX ↔ XY chimaeric mouse testes: Sertoli cells are predominantly, but not exclusively, XY

Palmer, S. J., & Burgoyne, P. S. (1991) · Development · doi:10.1242/dev.112.1.265 · Cited by 297

Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene

Biason-Lauber, A., Konrad, D., Meyer, M., deBeaufort, C., & Schoenle, E. J. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.016 · Cited by 296

Testis determination requires insulin receptor family function in mice

Nef, S., Verma-Kurvari, S., Merenmies, J., Vassalli, J.-D., Efstratiadis, A., Accili, D., & Parada, L. F. (2003) · Nature · doi:10.1038/nature02059 · Cited by 293

Mus poschiavinus Y Chromosome in the C57BL/6J Murine Genome Causes Sex Reversal

Eicher, E. M., Washburn, L. L., Whitney, J. B., & Morrow, K. E. (1982) · Science · doi:10.1126/science.7089579 · Cited by 289

A clinical and genetic study of campomelic dysplasia.

Mansour, S., Hall, C. M., Pembrey, M. E., & Young, I. D. (1995) · Journal of Medical Genetics · doi:10.1136/jmg.32.6.415 · Cited by 253

SOX9 Regulates Prostaglandin D Synthase Gene Transcription in Vivo to Ensure Testis Development

Wilhelm, D., Hiramatsu, R., Mizusaki, H., Widjaja, L., Combes, A. N., Kanai, Y., & Koopman, P. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m609578200 · Cited by 228

A critical time window of Sry action in gonadal sex determination in mice

Hiramatsu, R., Matoba, S., Kanai-Azuma, M., Tsunekawa, N., Katoh-Fukui, Y., Kurohmaru, M., Morohashi, K.-I., Wilhelm, D., Koopman, P., & Kanai, Y. (2009) · Development · doi:10.1242/dev.029587 · Cited by 226

Campomelic Dysplasia Translocation Breakpoints Are Scattered over 1 Mb Proximal to SOX9: Evidence for an Extended Control Region

Pfeifer, D., Kist, R., Dewar, K., Devon, K. L., Lander, E. S., Birren, B. W., Korniszewski, L., Back, E., & Scherer, G. (1999) · The American Journal of Human Genetics · doi:10.1086/302455 · Cited by 213

Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determination

Kim, Y., Bingham, N., Sekido, R., Parker, K. L., Lovell-Badge, R., & Capel, B. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0702581104 · Cited by 208

The PGD2 pathway, independently of FGF9, amplifies SOX9 activity in Sertoli cells during male sexual differentiation

Moniot, B., Declosmenil, F., Barrionuevo, F. J., Scherer, G., Aritake, K., Malki, S., Marzi, L., Cohen-Solal, A., Georg, I., Klattig, J., et al. (2009) · Development · doi:10.1242/dev.032631 · Cited by 195

Two Independent Nuclear Localization Signals Are Present in the DNA-binding High-mobility Group Domains of SRY and SOX9

Südbeck, P., & Scherer, G. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.44.27848 · Cited by 179

Expression of a linear Sry transcript in the mouse genital ridge

Jeske, Y. W. A., Bowles, J., Greenfield, A., & Koopman, P. A. (1995) · Nature Genetics · doi:10.1038/ng0895-480 · Cited by 177

The human SRY transcript

Clépet, C., Schater, A. J., Sinclair, A. H., Palmer, M. S., Lovell-Badge, R. H., & Goodfellow, P. N. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.12.2007 · Cited by 176

SOX8 Is Expressed during Testis Differentiation in Mice and Synergizes with SF1 to Activate the Amh Promoter in Vitro

Schepers, G., Wilson, M. J., Wilhelm, D., & Koopman, P. A. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m304067200 · Cited by 169

Loss of Mitogen-Activated Protein Kinase Kinase Kinase 4 (MAP3K4) Reveals a Requirement for MAPK Signalling in Mouse Sex Determination

Bogani, D., Siggers, P., Brixey, R., Warr, N., Beddow, S., Edwards, J., Williams, D., Wilhelm, D., Koopman, P., Flavell, R. A., et al. (2009) · PLoS Biology · doi:10.1371/journal.pbio.1000196 · Cited by 160

Defective importin β recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations

Harley, V. R., Layfield, S. L., Mitchell, C. L., Forwood, J. K., John, A., Briggs, L. J., McDowall, S. G., & Jans, D. A. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1137864100 · Cited by 152

Sex determination in mammals — Before and after the evolution of SRY

Wallis, M. C., Waters, P. D., & Graves, J. A. M. (2008) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-008-8109-z · Cited by 136

The biochemical role of SRY in sex determination

R. Harley, V., & N. Goodfellow, P. (1994) · Molecular Reproduction and Development · doi:10.1002/mrd.1080390211 · Cited by 114

Regulation of human SRY subcellular distribution by its acetylation/deacetylation

Thevenet, L., Méjean, C., Moniot, B., Bonneaud, N., Galéotti, N., Aldrian, G., Poulat, F., Berta, P., Benkirane, M., & Boizet‐Bonhoure, B. (2004) · The EMBO Journal · doi:10.1038/sj.emboj.7600352 · Cited by 114

Regulation of monoamine oxidase A by the SRY gene on the Y chromosome

Wu, J. B., Chen, K., Li, Y., Lau, Y. C., & Shih, J. C. (2009) · The FASEB Journal · doi:10.1096/fj.09-139097 · Cited by 112

Chromosome banding and DNA replication patterns in bird karyotypes

Schmid, M., Enderle, E., Schindler, D., & Schempp, W. (2008) · Cytogenetics and Cell Genetics · doi:10.1159/000132864 · Cited by 103

Sex‐Determining Genes in Mice: Building Pathways

Lovell-Badge, R. H., Canning, C., & Sekido, R. (2002) · Novartis Foundation symposium · doi:10.1002/0470868732.ch2 · Cited by 99

Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype

Veitia, R. A., Ion, A., Barbaux, S., Jobling, M. A., Souleyreau, N., Ennis, K., D, H. O. M., Tosi, M., Meo, T., Chibani, J. B., et al. (1997) · Human Genetics · doi:10.1007/s004390050422 · Cited by 99

The post-transcriptional roles of WT1, a multifunctional zinc-finger protein

Morrison, A. A., Viney, R. L., & Ladomery, M. (2007) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2007.10.002 · Cited by 93

FGF signaling directs a center-to-pole expansion of tubulogenesis in mouse testis differentiation

Hiramatsu, R., Harikae, K., Tsunekawa, N., Kurohmaru, M., Matsuo, I., & Kanai, Y. (2009) · Development · doi:10.1242/dev.040519 · Cited by 92

Sry Associates with the Heterochromatin Protein 1 Complex by Interacting with a KRAB Domain Protein1

Oh, H. J., Li, Y., & Lau, Y. C. (2004) · Biology of Reproduction · doi:10.1095/biolreprod.104.034447 · Cited by 84

Human SRY inhibits β-catenin-mediated transcription

Bernard, P., Sim, H., Knower, K. C., Vilain, E. J. N., & Harley, V. R. (2008) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2008.06.006 · Cited by 82

Regulation of tyrosine hydroxylase gene transcription by Sry

Milsted, A., Serova, L. I., Sabban, E. L., Dunphy, G., Turner, M. E., & Ely, D. (2004) · Neuroscience Letters · doi:10.1016/j.neulet.2004.07.052 · Cited by 82

The HMG box of SRY is a calmodulin binding domain

Harley, V. R., Lovell-Badge, R. H., Goodfellow, P. N., et al. (1996) · FEBS Letters · doi:10.1016/0014-5793(96)00694-1 · Cited by 79

Friend of GATA (FOG)-1 and FOG-2 Differentially Repress the GATA-Dependent Activity of Multiple Gonadal Promoters

Robert, N. M., Tremblay, J., & Viger, R. S. (2002) · Endocrinology · doi:10.1210/en.2002-220280 · Cited by 78

A cell-autonomous role for WT1 in regulating Sry in vivo

Bradford, S. T., Wilhelm, D., Bandiera, R., Vidal, V., Schedl, A., & Koopman, P. A. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp283 · Cited by 76

Epigenetic Gene Silencing by the SRY Protein Is Mediated by a KRAB-O Protein That Recruits the KAP1 Co-repressor Machinery*

Peng, H.-Z., Ivanov, A., Oh, H., Lau, Y.-F. C., & Rauscher, F. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.032086 · Cited by 75

The human and mouse sex-determining SRY genes repress the Rspol/β-catenin signaling

Lau, Y. C., & Li, Y. (2009) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/s1673-8527(08)60107-1 · Cited by 54

The Cerebellin 4 Precursor Gene Is a Direct Target of SRY and SOX9 in Mice1

Bradford, S. T., Hiramatsu, R., Maddugoda, M. P., Bernard, P., Chaboissier, M., Sinclair, A. H., Schedl, A., Harley, V. R., Kanai, Y., Koopman, P. A., et al. (2009) · Biology of Reproduction · doi:10.1095/biolreprod.108.071480 · Cited by 49

Goat SRY induces testis development in XX transgenic mice

Pannetier, M., Tilly, G., Kocer, A., Hudrisier, M., Renault, L., Chesnais, N., Costa, J., Provost, F. L., Vaiman, D., Vilotte, J.-L., et al. (2006) · FEBS Letters · doi:10.1016/j.febslet.2006.05.060 · Cited by 41

The poly(ADP-ribose) polymerase 1 interacts with Sry and modulates its biological functions

Li, Y., Oh, H. J., & Lau, Y. C. (2006) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2006.06.008 · Cited by 32

Ectopic expression of mouse Sry interferes with Wnt/β-catenin signaling in mouse embryonal carcinoma cell lines

Tamashiro, D. A. A., Alarcón, V. B., & Marikawa, Y. (2008) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2008.07.001 · Cited by 25

New insights into SRY regulation through identification of 5' conserved sequences

Ross, D. G. F., Bowles, J., Koopman, P. A., & Lehnert, S. A. (2008) · BMC Molecular Biology · doi:10.1186/1471-2199-9-85 · Cited by 25

The R-spondin/Lgr5/Rnf43 module: regulator of Wnt signal strength

de Lau, W., Peng, W. C., Gros, P., & Clevers, H. (2014) · Genes & Development · doi:10.1101/gad.235473.113 · Cited by 656

The R-spondin protein family

de Lau, W. B., Snel, B., & Clevers, H. C. (2012) · Genome Biology · doi:10.1186/gb-2012-13-3-242 · Cited by 299

Do you know the sex of your cells?

Shah, K., McCormack, C. E., & Bradbury, N. A. (2014) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00281.2013 · Cited by 219

Epigenetic impacts of endocrine disruptors in the brain

Walker, D. M., & Gore, A. C. (2017) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2016.09.002 · Cited by 94

MicroRNA dynamics at the onset of primordial germ and somatic cell sex differentiation during mouse embryonic gonad development

Fernández-Pérez, D., Brieño-Enríquez, M. A., Isoler-Alcaraz, J., Larriba, E., & del Mazo, J. (2018) · RNA · doi:10.1261/rna.062869.117 · Cited by 37