Genomes and Genes
Experts and Doctors on testis in Brisbane, Queensland, Australia
Locale: Brisbane, Queensland, Australia
- Rae F, Hooper J, Eyre H, Sutherland G, Nicol D, Clements J. TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is located on 17q24 and upregulated in renal cell carcinoma. Genomics. 2001;77:200-7 pubmed..In addition to a putative role in brain and testis, the over-expression of TTYH2 in renal cell carcinoma suggests that it may have an important role in kidney tumorigenesis. ..
- Spiller C, Feng C, Jackson A, Gillis A, Rolland A, Looijenga L, et al. Endogenous Nodal signaling regulates germ cell potency during mammalian testis development. Development. 2012;139:4123-32 pubmed publisher..Thus, Nodal signaling provides a molecular control mechanism that regulates male germ cell potency in normal development and testicular cancer. ..
- Bowles J, Koopman P. Retinoic acid, meiosis and germ cell fate in mammals. Development. 2007;134:3401-11 pubmed..Although this knowledge clarifies a long-standing mystery in reproductive biology, it also poses many new questions, which we discuss in this review. ..
- Combes A, Bowles J, Feng C, Chiu H, Khoo P, Jackson A, et al. Expression and functional analysis of Dkk1 during early gonadal development. Sex Dev. 2011;5:124-30 pubmed publisher..Nor did we find significant differences in expression of key markers of testis and ovarian development. We propose that DKK1 may play a protective role that is not unmasked by loss-of-function in the absence of other stressors. ..
- Jeanes A, Wilhelm D, Wilson M, Bowles J, McClive P, Sinclair A, et al. Evaluation of candidate markers for the peritubular myoid cell lineage in the developing mouse testis. Reproduction. 2005;130:509-16 pubmed..Although not strictly specific for PM cells, these markers are likely to be useful in studying the biology of early PM cells in the fetal testis...
- Bowles J, Knight D, Smith C, Wilhelm D, Richman J, Mamiya S, et al. Retinoid signaling determines germ cell fate in mice. Science. 2006;312:596-600 pubmed..Thus, precise regulation of retinoid levels during fetal gonad development provides the molecular control mechanism that specifies germ cell fate. ..
- Oey H, Youngson N, Whitelaw E. The characterisation of piRNA-related 19mers in the mouse. BMC Genomics. 2011;12:315 pubmed publisher..While pr19RNAs appear not to bind directly to Miwi or Mili, their abundance relative to secondary piRNAs, in combination with their precise length, suggests they may be more than by-products of secondary piRNA biogenesis. ..
- Polanco J, Wilhelm D, Davidson T, Knight D, Koopman P. Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development. Hum Mol Genet. 2010;19:506-16 pubmed publisher..1, our results functionally implicate SOX10 in the etiology of these DSDs. ..
- Wainwright E, Jorgensen J, Kim Y, Truong V, Bagheri Fam S, Davidson T, et al. SOX9 regulates microRNA miR-202-5p/3p expression during mouse testis differentiation. Biol Reprod. 2013;89:34 pubmed publisher..Our findings indicate that expression of the conserved gonad microRNA, miR-202-5p/3p, is downstream of the testis-determining factor SOX9, suggesting an early role in testis development. ..
- Beverdam A, Svingen T, Bagheri Fam S, Bernard P, McClive P, Robson M, et al. Sox9-dependent expression of Gstm6 in Sertoli cells during testis development in mice. Reproduction. 2009;137:481-6 pubmed publisher..Our data suggest that Gstm6 plays a male-specific role in gonad development or function, possibly by modulating the exposure of somatic tissue and/or germ cells to endogenous or exogenous toxicants. ..
- Ross D, Bowles J, Hope M, Lehnert S, Koopman P. Profiles of gonadal gene expression in the developing bovine embryo. Sex Dev. 2009;3:273-83 pubmed publisher..Therefore, Bos taurus may represent a useful model in which to study gene expression during sex determination, relevant to human development...
- Combes A, Spiller C, Harley V, Sinclair A, Dunwoodie S, Wilhelm D, et al. Gonadal defects in Cited2-mutant mice indicate a role for SF1 in both testis and ovary differentiation. Int J Dev Biol. 2010;54:683-9 pubmed publisher..These data suggest a novel role for SF1 in promoting ovarian development in addition to its roles in testis differentiation. ..
- Bowles J, Feng C, Knight D, Smith C, Roeszler K, Bagheri Fam S, et al. Male-specific expression of Aldh1a1 in mouse and chicken fetal testes: implications for retinoid balance in gonad development. Dev Dyn. 2009;238:2073-80 pubmed publisher..Our data suggest that low levels of RA may be required for early developmental events in the testis, or that Aldh1a1 expression in the fetus may prefigure a later requirement for ALDH1A1 in regulating spermatogenesis postnatally. ..
- Hooper J, Nicol D, Dickinson J, Eyre H, Scarman A, Normyle J, et al. Testisin, a new human serine proteinase expressed by premeiotic testicular germ cells and lost in testicular germ cell tumors. Cancer Res. 1999;59:3199-205 pubmed..These findings demonstrate a new cell surface serine proteinase, loss of which may have a direct or indirect role in the progression of testicular tumors of germ cell origin. ..
- Koopman P. Sry and Sox9: mammalian testis-determining genes. Cell Mol Life Sci. 1999;55:839-56 pubmed
- Koopman P, Bullejos M, Loffler K, Bowles J. Expression-based strategies for discovery of genes involved in testis and ovary development. Novartis Found Symp. 2002;244:240-9; discussion 249-57 pubmed..One of these, vanin 1, appears to play a role in mediating migration of mesonephric cells into the male genital ridge. Progress in characterizing other genes arising from the screen is discussed. ..
- Smith J, Bowles J, Wilson M, Koopman P. HMG box transcription factor gene Hbp1 is expressed in germ cells of the developing mouse testis. Dev Dyn. 2004;230:366-70 pubmed..We conclude that Hbp1 is up-regulated specifically in germ cells of the developing XY gonad. The expression of Hbp1 in XY germ cells appears to correlate with the onset of mitotic arrest in these cells. ..
- Svingen T, Beverdam A, Bernard P, McClive P, Harley V, Sinclair A, et al. Sex-specific expression of a novel gene Tmem184a during mouse testis differentiation. Reproduction. 2007;133:983-9 pubmed..Tmem184a expression is further shown to be expressed exclusively within the Sertoli cells of the developing testis cords, suggesting that it may mediate sex-specific signaling events during Sertoli cell differentiation. ..
- 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. ..
- Beverdam A, Svingen T, Bagheri Fam S, McClive P, Sinclair A, Harley V, et al. Protein tyrosine kinase 2 beta (PTK2B), but not focal adhesion kinase (FAK), is expressed in a sexually dimorphic pattern in developing mouse gonads. Dev Dyn. 2010;239:2735-41 pubmed publisher..Fak mRNA and FAK protein were expressed in gonads of both sexes at all stages examined. Our data suggest cell type- and stage-specific roles for PTK2B during early testis development. ..
- Wilhelm D, Martinson F, Bradford S, Wilson M, Combes A, Beverdam A, et al. Sertoli cell differentiation is induced both cell-autonomously and through prostaglandin signaling during mammalian sex determination. Dev Biol. 2005;287:111-24 pubmed..Our data indicate a mechanism whereby Sry uses both a cell-autonomous mechanism and a PGD2-mediated signaling mechanism to stimulate expression of Sox9 and induce the differentiation of Sertoli cells in vivo. ..
- 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. ..
- Combes A, Wilhelm D, Davidson T, Dejana E, Harley V, Sinclair A, et al. Endothelial cell migration directs testis cord formation. Dev Biol. 2009;326:112-20 pubmed publisher..Our data reveal that migration of endothelial cells is required for testis cord formation, consistent with increasing evidence of a broader role for endothelial cells in establishing tissue architecture during organogenesis. ..
- Wilson M, Liaw L, Koopman P. Osteopontin and related SIBLING glycoprotein genes are expressed by Sertoli cells during mouse testis development. Dev Dyn. 2005;233:1488-95 pubmed..Dmp and Bsp mRNA was also expressed in the developing testis cords, supporting the view that all three SIBLING proteins may contribute to testis differentiation. ..
- Polanco J, Wilhelm D, Mizusaki H, Jackson A, Browne C, Davidson T, et al. Functional analysis of the SRY-KRAB interaction in mouse sex determination. Biol Cell. 2009;101:55-67 pubmed publisher..Overlapping expression and potential redundancy between members of the large KRAB-O gene cluster may mask any loss-of-function in vivo, presenting clear challenges for further functional analysis. ..
- Chawengsaksophak K, Svingen T, Ng E, Epp T, Spiller C, Clark C, et al. Loss of Wnt5a disrupts primordial germ cell migration and male sexual development in mice. Biol Reprod. 2012;86:1-12 pubmed publisher..Our results indicate multiple roles for Wnt5a during mammalian reproductive development and help to clarify further the etiology of Robinow syndrome (OMIM 268310), a disease previously linked to the WNT5A pathway. ..
- Scarman A, Hooper J, Boucaut K, Sit M, Webb G, Normyle J, et al. Organization and chromosomal localization of the murine Testisin gene encoding a serine protease temporally expressed during spermatogenesis. Eur J Biochem. 2001;268:1250-8 pubmed..These data identify the murine ortholog to human Testisin and demonstrate that the murine Testisin gene is temporally regulated during murine spermatogenesis. ..
- Svingen T, Beverdam A, Verma P, Wilhelm D, Koopman P. Aard is specifically up-regulated in Sertoli cells during mouse testis differentiation. Int J Dev Biol. 2007;51:255-8 pubmed..Although low levels of Aard transcripts were detected in other tissues by quantitative RT-PCR assays, high levels of Aard expression is specific to the testis in both embryonic and adult mice. ..
- Wilson M, Jeyasuria P, Parker K, Koopman P. The transcription factors steroidogenic factor-1 and SOX9 regulate expression of Vanin-1 during mouse testis development. J Biol Chem. 2005;280:5917-23 pubmed..Our findings account for the sex- and cell-type-specific expression of Vanin-1 in the developing mouse gonad in vivo, which we suggest is required to provide an appropriate environment for male germ cell development. ..
- Schepers G, Wilson M, Wilhelm D, Koopman P. SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro. J Biol Chem. 2003;278:28101-8 pubmed
- Svingen T, McClelland K, Masumoto K, Sujino M, Nagano M, Shigeyoshi Y, et al. Prokr2-deficient mice display vascular dysmorphology of the fetal testes: potential implications for Kallmann syndrome aetiology. Sex Dev. 2011;5:294-303 pubmed publisher..This phenotype offers potential insight into the clinical heterogeneity observed within familial cases, and may contribute to the gender bias in Kallmann syndrome patients. ..
- Georgas K, Bowles J, Yamada T, Koopman P, Little M. Characterisation of Crim1 expression in the developing mouse urogenital tract reveals a sexually dimorphic gonadal expression pattern. Dev Dyn. 2000;219:582-7 pubmed..Crim1 also displays a striking male-specific expression pattern in the fetal gonads, its expression strongest in the Sertoli cells of the developing testis. ..
- 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. ..
- Kent J, Wheatley S, Andrews J, Sinclair A, Koopman P. A male-specific role for SOX9 in vertebrate sex determination. Development. 1996;122:2813-22 pubmed..These results suggest that SOX9 may have a wider role in the development of the genitourinary system. ..