sex determining region y protein



Top Publications

  1. Moniot B, Declosmenil F, Barrionuevo F, Scherer G, Aritake K, Malki S, et al. The PGD2 pathway, independently of FGF9, amplifies SOX9 activity in Sertoli cells during male sexual differentiation. Development. 2009;136:1813-21 pubmed publisher
    ..This mechanism participates together with FGF9 as an amplification system of Sox9 gene expression and activity during mammalian testicular organogenesis. ..
  2. Mao M, Wang S, Lv X, Wang Y, Xu J. Intravenous delivery of bone marrow-derived endothelial progenitor cells improves survival and attenuates lipopolysaccharide-induced lung injury in rats. Shock. 2010;34:196-204 pubmed publisher
    ..The beneficial effects of EPC engraftment is likely to come from maintaining the integrity of pulmonary alveolar-capillary barrier, reestablishing the endothelial function in vessels and ameliorating the inflammatory state. ..
  3. Caglayan A, Demiryilmaz F, Kendirci M, Ozyazgan I, Akalin H, Bittmann S. Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype. Genet Couns. 2009;20:173-9 pubmed
    ..We suggest that study of cytogenetic and molecular mosaicism involving sex chromosomes may help to further unravel the mysterious process in mixed gonadal dysgeneic patients...
  4. Chien S, Li Y, Ho M, Hsu P, Teng R, Lin W, et al. Rare rearrangements: a "jumping satellite" in one family and autosomal location of the SRY gene in an XX male. Am J Med Genet A. 2009;149A:2775-81 pubmed publisher
    ..A healthy boy was delivered at 37 weeks of gestation. At 1-year follow-up, the child's growth pattern and development were appropriate for age. ..
  5. Gao H, Wang S, Li H, Meng H. [Screening of sexual differentially expressed genes in the chicken early embryonic gonads using DNA microarray]. Sheng Wu Gong Cheng Xue Bao. 2009;25:230-4 pubmed
  6. Fitches A, Yousem S, Cieply K, Stebbings S, Highton J, Hung N. PCR detectable Y chromosome-specific DNA but no intact Y chromosome-bearing cells in polymyositis biopsies of two women with male offspring. Pathology. 2010;42:160-4 pubmed publisher
    ..No Y chromosome-bearing intact cells of lymphocytic, macrophage or muscle lineage were detected. Our results suggest that microchimeric fetal cells are not found in the lesional tissue of pregnancy-related polymyositis. ..
  7. Mitsuhashi T, Warita K, Tabuchi Y, Takasaki I, Kondo T, Sugawara T, et al. Global gene profiling and comprehensive bioinformatics analysis of a 46,XY female with pericentric inversion of the Y chromosome. Congenit Anom (Kyoto). 2010;50:40-51 pubmed publisher
    ..Our findings could serve as one of the basic datasets which will be used for future follow-up investigations. ..
  8. Philibert P, Leprieur E, Zenaty D, Thibaud E, Polak M, Frances A, et al. Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. Reprod Biol Endocrinol. 2010;8:28 pubmed publisher
    ..Among the genetic causes of low-testosterone primary amenorrhea due to 46,XY DSD, SRY gene is reported to be frequently involved, but other genes, such as SF1 and WT1, have never been studied for their prevalence...
  9. Murata C, Yamada F, Kawauchi N, Matsuda Y, Kuroiwa A. Multiple copies of SRY on the large Y chromosome of the Okinawa spiny rat, Tokudaia muenninki. Chromosome Res. 2010;18:623-34 pubmed publisher
    ..A species-specific substitution from alanine to serine was found in all copies at the DNA-binding surface within the HMG-box, suggesting that it occurred in an original SRY. ..

More Information


  1. Bradford S, Hiramatsu R, Maddugoda M, Bernard P, Chaboissier M, Sinclair A, et al. The cerebellin 4 precursor gene is a direct target of SRY and SOX9 in mice. Biol Reprod. 2009;80:1178-88 pubmed publisher
    ..Our findings suggest that both SRY and SOX9 contribute to the male-specific upregulation of Cbln4 in the developing testis, and they identified a direct in vivo target gene of SRY. ..
  2. Kuroiwa A, Ishiguchi Y, Yamada F, Shintaro A, Matsuda Y. The process of a Y-loss event in an XO/XO mammal, the Ryukyu spiny rat. Chromosoma. 2010;119:519-26 pubmed publisher
    ..These functions might have been retained through the acquisition of new genes, and therefore, the Y-loss has had no harmful effect on the maintenance of this species. ..
  3. Koopman P. The delicate balance between male and female sex determining pathways: potential for disruption of early steps in sexual development. Int J Androl. 2010;33:252-8 pubmed publisher
    ..For these reasons, the early steps in mammalian sexual development are vulnerable to genetic and environmental perturbation, and represent possible points of action of endocrine disrupting compounds. ..
  4. Parada Bustamante A, Rios R, Ebensperger M, Lardone M, Piottante A, Castro A. 46,XX/SRY-negative true hermaphrodite. Fertil Steril. 2010;94:2330.e13-6 pubmed publisher
    ..Conservative gonadal surgery should be performed only when all ovarian tissue can be resected. Our results suggest that letrozole is not an adequate treatment for 46,XX true hermaphrodite males with ovotestes. ..
  5. Kaur G, Delluc Clavieres A, Poon I, Forwood J, Glover D, Jans D. Calmodulin-dependent nuclear import of HMG-box family nuclear factors: importance of the role of SRY in sex reversal. Biochem J. 2010;430:39-48 pubmed publisher
    ..CaM-dependent nuclear translocation is thus a common mechanism for this family of important transcription factors. ..
  6. Scheffer P, van der Schoot C, Page Christiaens G, Bossers B, van Erp F, de Haas M. Reliability of fetal sex determination using maternal plasma. Obstet Gynecol. 2010;115:117-26 pubmed publisher
    ..6-100% and 95.6-100%, respectively). In all 10 cases in which the presence of fetal DNA could not be confirmed, a female was born. Noninvasive fetal sex determination in maternal plasma is highly reliable and clinically applicable. III. ..
  7. Sekido R. SRY: A transcriptional activator of mammalian testis determination. Int J Biochem Cell Biol. 2010;42:417-20 pubmed publisher
    ..Furthermore, this SRY action is limited to a certain time period during embryogenesis. ..
  8. Lovell Badge R. The early history of the Sox genes. Int J Biochem Cell Biol. 2010;42:378-80 pubmed publisher
    ..This is a brief account of how the first Sox genes were found. ..
  9. Poplinski A, Wieacker P, Kliesch S, Gromoll J. Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome. Eur J Endocrinol. 2010;162:169-75 pubmed publisher
    ..XIST hypomethylation clearly distinguishes (SRY+) XX-males from Klinefelter men. It does not, however, impair appropriate epigenetic regulation of representative X-linked loci. ..
  10. Kashimada K, Koopman P. Sry: the master switch in mammalian sex determination. Development. 2010;137:3921-30 pubmed publisher
    ..Here, we discuss the cascade of events triggered by SRY and the mechanisms that reinforce the differentiation of the testes in males while actively inhibiting ovarian development. ..
  11. Wilhelm D, Washburn L, Truong V, Fellous M, Eicher E, Koopman P. Antagonism of the testis- and ovary-determining pathways during ovotestis development in mice. Mech Dev. 2009;126:324-36 pubmed publisher
    ..Together these findings provide important new insights into the molecular regulation of testis and ovary development. ..
  12. Svingen T, Wilhelm D, Combes A, Hosking B, Harley V, Sinclair A, et al. Ex vivo magnetofection: a novel strategy for the study of gene function in mouse organogenesis. Dev Dyn. 2009;238:956-64 pubmed publisher
    ..This technique will likely be applicable to the study of gene function in a broader range of developing organs and tissues. ..
  13. Isidor B, Capito C, Paris F, Baron S, Corradini N, Cabaret B, et al. Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome. J Clin Endocrinol Metab. 2009;94:3467-71 pubmed publisher
    ..Importantly, the present report is the first one describing the association of SRY mutation in a male with TDS. This suggests that mutations in a sex-determining gene may contribute to the pathogenesis of TDS. ..
  14. Bouvier B, Lavery R. A free energy pathway for the interaction of the SRY protein with its binding site on DNA from atomistic simulations. J Am Chem Soc. 2009;131:9864-5 pubmed publisher
    ..The resulting free energy profile provides a detailed view of protein-DNA binding and identifies a metastable intermediate state. ..
  15. Belangero S, Christofolini D, Bianco B, Gava M, Wroclawski E, Barbosa C. Male infertility related to an aberrant karyotype, 46,XY,9ph,9qh+. Fertil Steril. 2009;91:2732.e1-3 pubmed publisher
    ..The morphologic difference between the homologous chromosomes 9 may have been responsible for an error in crossing-over, leading to aberrant spermatozoa and consequently to infertility. ..
  16. Zejskova L, Jancuskova T, Kotlabova K, Doucha J, Hromadnikova I. Feasibility of fetal-derived hypermethylated RASSF1A sequence quantification in maternal plasma--next step toward reliable non-invasive prenatal diagnostics. Exp Mol Pathol. 2010;89:241-7 pubmed publisher
  17. Kim J, Kim S, Song J, Choi J, Kim H, Lee K. An SRY-deleted XXY female resulting from a paternally inherited t(Y;22). Ann Clin Lab Sci. 2010;40:295-9 pubmed
    ..However, the patient should be closely followed in regard to fertility and the possibility of developing a gonadoblastoma...
  18. Hong Z, Huang X, Yin Z, Zhao W, Wang X. Immunosuppressive function of bone marrow mesenchymal stem cells on acute rejection of liver allografts in rats. Transplant Proc. 2009;41:403-9 pubmed publisher
    ..We conclude that IFN-gamma may enhance the immunosuppressive function of MSCs to protect liver allografts in rats from acute immunologic rejection. ..
  19. Lee H, Pazin D, Kahlon R, Correa S, Albrecht K. Novel markers of early ovarian pre-granulosa cells are expressed in an Sry-like pattern. Dev Dyn. 2009;238:812-25 pubmed publisher
  20. Zakrzewska K, Bouvier B, Michon A, Blanchet C, Lavery R. Protein-DNA binding specificity: a grid-enabled computational approach applied to single and multiple protein assemblies. Phys Chem Chem Phys. 2009;11:10712-21 pubmed publisher
    ..Although they all involve significant DNA deformation, it is found that this does not necessarily imply that the recognition will be dominated by the sequence-dependent mechanical properties of DNA. ..
  21. Barbaro M, Balsamo A, Anderlid B, Myhre A, Gennari M, Nicoletti A, et al. Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. Eur J Hum Genet. 2009;17:1439-47 pubmed publisher
  22. Irkilata H, Basal S, Taslipinar A, Gur A, Piskin M, Kurt B, et al. Ovotesticular disorder of sex development with a prostatic gland and review of literature. Andrologia. 2009;41:387-91 pubmed publisher
    ..Existence of prostate in an XX male without SRY is rarely seen and reveals a complete male phenotype. This finding is critical to figure out what happens in embryonal period. ..
  23. Cirello V, Perrino M, Colombo C, Muzza M, Filopanti M, Vicentini L, et al. Fetal cell microchimerism in papillary thyroid cancer: studies in peripheral blood and tissues. Int J Cancer. 2010;126:2874-8 pubmed publisher
  24. Akbas E, Soylemez F, Hallioglu O, Polat S, Turkoz G. Analysis of the SRY gene in a girl with 45,X/46,XY genotype. Genet Couns. 2009;20:249-54 pubmed
    ..Molecular analysis of the blood lymphocytes confirmed the presence of the SRY gene of the patient. We report here the clinical and cytogenetic findings in a patient with an unusual sex chromosome mosaicism. ..
  25. Pajares G, Balseiro A, Pérez Pardal L, Gamarra J, Monteagudo L, Goyache F, et al. Sry-negative XX true hermaphroditism in a roe deer. Anim Reprod Sci. 2009;112:190-7 pubmed publisher
    ..However, as in many other cases, the specific reason for the occurrence of this case of hermaphroditism could not be determined. ..
  26. Bradford S, Wilhelm D, Bandiera R, Vidal V, Schedl A, Koopman P. A cell-autonomous role for WT1 in regulating Sry in vivo. Hum Mol Genet. 2009;18:3429-38 pubmed publisher
    ..Thus, sex reversal in Wt1(+KTS)-null mice and Frasier syndrome patients results from a failure of Sertoli cells both to fully differentiate and to reach sufficient numbers to direct testis development. ..
  27. Peng H, Ivanov A, Oh H, Lau Y, Rauscher F. Epigenetic gene silencing by the SRY protein is mediated by a KRAB-O protein that recruits the KAP1 co-repressor machinery. J Biol Chem. 2009;284:35670-80 pubmed publisher
    ..Other KRAB domain proteins, which lack a zinc finger DNA-binding motif, may function in similar roles as adaptor proteins for epigenetic gene silencing. ..
  28. Cheng K, Gupta S. Quantitative tools for assessing the fate of xenotransplanted human stem/progenitor cells in chimeric mice. Xenotransplantation. 2009;16:145-51 pubmed publisher
  29. Shahid M, Dhillon V, Khalil H, Haque S, Batra S, Husain S, et al. A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient. BMC Med Genet. 2010;11:131 pubmed publisher
    ..The majority of mutations within the SRY gene are de novo affecting only a single individual in the family. The mutations within the high-mobility group (HMG) region have the potential to affect its DNA binding activity...
  30. Wijchers P, Yandim C, Panousopoulou E, Ahmad M, Harker N, Saveliev A, et al. Sexual dimorphism in mammalian autosomal gene regulation is determined not only by Sry but by sex chromosome complement as well. Dev Cell. 2010;19:477-84 pubmed publisher
    ..The identification of this additional layer in the establishment of sexual dimorphisms has implications for understanding sexual dimorphisms in physiology and disease. ..
  31. Oshima Y, Harwood F, Coutts R, Kubo T, Amiel D. Variation of mesenchymal cells in polylactic acid scaffold in an osteochondral repair model. Tissue Eng Part C Methods. 2009;15:595-604 pubmed publisher
    ..e. 24 weeks). These results could be essential for achieving cartilage regeneration by cell transplantation strategies with growth factors and/or gene therapy. ..
  32. Chernykh V, Kurilo L, Shilova N, Zolotukhina T, Ryzhkova O, Bliznetz E, et al. Hidden X chromosomal mosaicism in a 46,XX male. Sex Dev. 2009;3:183-7 pubmed publisher
    ..In situ hybridization revealed the presence of 3 SRY-positive cell lines bearing 1, 2 or 3 X chromosomes. Skewed inactivation of the paternal SRY-bearing X chromosome was detected by molecular analysis of the androgen receptor gene. ..
  33. Mitsuhashi T, Warita K, Sugawara T, Tabuchi Y, Takasaki I, Kondo T, et al. Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome. Congenit Anom (Kyoto). 2010;50:85-94 pubmed publisher
    ..The findings suggest that correct regulation of SRY expression is crucial for normal male sex differentiation, even if SRY is translated normally. ..
  34. Hersmus R, de Leeuw B, Stoop H, Bernard P, van Doorn H, Bruggenwirth H, et al. A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. Eur J Hum Genet. 2009;17:1642-9 pubmed publisher
  35. Franco C, Britto K, Wong E, Hou G, Zhu S, Chen M, et al. Discoidin domain receptor 1 on bone marrow-derived cells promotes macrophage accumulation during atherogenesis. Circ Res. 2009;105:1141-8 pubmed publisher
    ..Taken together, our data support an independent and critical role for DDR1 in macrophage accumulation at early and late stages of atherogenesis. ..
  36. Hromadnikova I, Benesova M, Zejskova L, Stehnova J, Doucha J, Sedlacek P, et al. The effect of DYS-14 copy number variations on extracellular fetal DNA quantification in maternal circulation. DNA Cell Biol. 2009;28:351-8 pubmed publisher
    ..We concluded that, regarding interindividual copy number variations, the DYS-14 sequence is not an optimal marker for extracellular fetal DNA quantification for differentiation between normal and complicated pregnancies. ..
  37. Pelzer M, Larsen M, Friedrich P, Aleff R, Bishop A. Repopulation of vascularized bone allotransplants with recipient-derived cells: detection by laser capture microdissection and real-time PCR. J Orthop Res. 2009;27:1514-20 pubmed publisher
  38. Lopez Valdes J, Nieto K, Najera N, Cervantes A, Kofman Alfaro S, Queipo G. Mix gonadal dysgenesis associated with ring Y chromosome mosaics in a phenotypic male. Sex Dev. 2009;3:177-82 pubmed publisher
    ..We suggest that a detailed cytogenetic and molecular analysis should be done in all males with bilateral descended testes and infertility...
  39. Wei Y, Nie Y, Lai J, Wan Y, Li Y. Comparison of the population capacity of hematopoietic and mesenchymal stem cells in experimental colitis rat model. Transplantation. 2009;88:42-8 pubmed publisher
    ..Combination transplantation of HSCs with MSCs could improve the gross morphologic scores of EC. ..
  40. Wainwright E, Wilhelm D. The game plan: cellular and molecular mechanisms of mammalian testis development. Curr Top Dev Biol. 2010;90:231-62 pubmed publisher
    ..Here, we review what is known about testis differentiation in mice and humans, with reference to other species where appropriate. ..
  41. Barrionuevo F, Scherer G. SOX E genes: SOX9 and SOX8 in mammalian testis development. Int J Biochem Cell Biol. 2010;42:433-6 pubmed publisher
    ..In the combined absence of Sox9 and Sox8, primary male infertility evolves, revealing functional redundancy. Loss of Sox10 has no effect on testis development. ..
  42. Lau Y, Li Y. The human and mouse sex-determining SRY genes repress the Rspol/beta-catenin signaling. J Genet Genomics. 2009;36:193-202 pubmed publisher
  43. Morte B, Diez D, Ausó E, Belinchon M, Gil Ibáñez P, Grijota Martinez C, et al. Thyroid hormone regulation of gene expression in the developing rat fetal cerebral cortex: prominent role of the Ca2+/calmodulin-dependent protein kinase IV pathway. Endocrinology. 2010;151:810-20 pubmed publisher
  44. Bogani D, Siggers P, Brixey R, Warr N, Beddow S, Edwards J, et al. Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination. PLoS Biol. 2009;7:e1000196 pubmed publisher
  45. Hromadnikova I, Zejskova L, Kotlabova K, Jancuskova T, Doucha J, Dlouha K, et al. Quantification of extracellular DNA using hypermethylated RASSF1A, SRY, and GLO sequences--evaluation of diagnostic possibilities for predicting placental insufficiency. DNA Cell Biol. 2010;29:295-301 pubmed publisher
    ..However, this is strongly individualized, and not a rule for all cases, and probably depends on the actual occurrence of excessive placental trophoblast apoptosis. ..
  46. Gontan C, Guttler T, Engelen E, Demmers J, Fornerod M, Grosveld F, et al. Exportin 4 mediates a novel nuclear import pathway for Sox family transcription factors. J Cell Biol. 2009;185:27-34 pubmed publisher
    ..This suggests that nuclear import of Sox proteins is facilitated by several parallel import pathways. ..
  47. Milsted A, Underwood A, Dunmire J, DelPuerto H, Martins A, Ely D, et al. Regulation of multiple renin-angiotensin system genes by Sry. J Hypertens. 2010;28:59-64 pubmed publisher
    ..These actions of Sry could result in increased blood pressure in males and contribute to sex differences in blood pressure. ..
  48. Gou X, Wang Y, Yang S, Deng W, Mao H. Genetic diversity and origin of Gayal and cattle in Yunnan revealed by mtDNA control region and SRY gene sequence variation. J Anim Breed Genet. 2010;127:154-60 pubmed publisher
    ..taurus. The phylogenetic pattern of Yunnan cattle was consistent with the recently described cattle matrilineal pool from China and indicated more contribution to the Yunnan cattle from B. indicus than from B. taurus. ..
  49. Barker J, Torregrossa M, Arnold A, Taylor J. Dissociation of genetic and hormonal influences on sex differences in alcoholism-related behaviors. J Neurosci. 2010;30:9140-4 pubmed publisher
    ..Conversely, alcohol drinking was predicted by gonadal phenotype independent of sex chromosome complement. These results indicate that different alcoholism-related behaviors are determined independently by gonadal and chromosomal sex. ..
  50. Buaas F, Val P, Swain A. The transcription co-factor CITED2 functions during sex determination and early gonad development. Hum Mol Genet. 2009;18:2989-3001 pubmed publisher
    ..This highlights the gene dosage sensitivity of the pathway's effect on Sry levels and embryonic gonad development...
  51. Navara K, Workman J, Oberdick J, Nelson R. Short day lengths skew prenatal sex ratios toward males in Siberian hamsters. Physiol Biochem Zool. 2010;83:127-34 pubmed publisher
    ..Thus, photoperiod functions as an effective seasonal cue, stimulating sex ratio skews toward males when day lengths are short. ..
  52. Graves J. Review: Sex chromosome evolution and the expression of sex-specific genes in the placenta. Placenta. 2010;31 Suppl:S27-32 pubmed publisher
    ..Imprinted paternal X inactivation in rodent extraembryonic tissues would be expected to mitigate the effect of foreign paternal antigens; however, paternal inactivation seems not to occur in the human placenta. ..