The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y Chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9]

Harley, Vincent R.; Clarkson, Michael; Argentaro, Anthony

doi:10.1210/er.2002-0025

Cited by 214 publications

(184 citation statements)

References 176 publications

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“…In the cane toad, we detected expression of Sox9 at the young metamorph stage before the presumed point of sexual differentiation, suggesting a continuous expression of the gene in the developing gonads of both sexes, similar to the situation in chicken, fish, and frog (Morais da Silva et al, 1996;Spotila et al, 1998;Takase et al, 2000;Ijiri et al, 2008). Thus, Sox9 expression generally conformed to that seen in other vertebrates, and its expression in the gonads of cane toads supports its likely function as an ancient tetrapod testis-associated gene (Harley et al, 2003;Nakamoto et al, 2005;DiNapoli and Capel, 2008).…”

Section: Discussionsupporting

confidence: 70%

Cloning and expression of candidate sexual development genes in the cane toad (Bufo marinus)

Abramyan

Feng

Koopman

2009

Developmental Dynamics

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The development of the reproductive system in bufonids (true toads) is unique in several respects: sexual differentiation occurs later than in other anurans, and toads develop a Bidder's organ, a rudimentary ovary that can be manipulated in males to produce mature oocytes. To illuminate the genesis of this unusual reproductive system, we isolated from the cane toad (Bufo marinus) the orthologues of several known vertebrate sex-determining genes, determined their primary structure, and studied their expression by reverse transcriptase-polymerase chain reaction and in situ hybridization of tissue sections. We report here that cane toad Sox9, Dmrt1, and p450aromatase (Cyp19a1) are highly homologous to their counterparts in other vertebrates. They show profiles of expression that generally follow patterns observed in other taxa, but with some novel features. Our data suggest that these genes likely play key roles in sex determination and early gonad development in bufonids.

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Section: Discussionsupporting

confidence: 70%

Cloning and expression of candidate sexual development genes in the cane toad (Bufo marinus)

Abramyan

Feng

Koopman

2009

Developmental Dynamics

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“…Alternatively, it is likely that SRY antibodies may cross-react to other related proteins present in the germ cells, leading to generation of nonspecific signals in immunochemical procedure. Indeed, SRY is known to share significant homology with the SOX family of proteins (Haqq & Donahoe 1998, Harley et al 2003. In this context, it is noteworthy that, in one study, SRY protein was not detectable in the germ cells of fetal testis with a monoclonal antibody (Hanley et al 2000), but was found to be localized to the nuclei of germ cells in another study (Salas-Cortes et al 1999).…”

Section: Discussionmentioning

confidence: 97%

“…Extensive molecular and cytogenetic studies in man and other mammals have identified the SRY (sex-determining region on Y) gene on the short arm of the Y chromosome, which fulfills the genetic and conceptual requirement of a testis-determining factor (TDF). SRY is appropriately expressed in the genital ridges at the onset of gonadal differentiation in both mice and man (Hacker et al 1995, Hanley et al 2000; the gene is mutated in a subset of 46XY females and is detected in the genome of most XX males (reviewed in Haqq & Donahoe 1998, Harley et al 2003. That XX mice transgenic for the SRY gene develop as males and exhibit male mating behavior (Koopman et al 1991) is the ultimate validation of equating SRY to the TDF.…”

Section: Introductionmentioning

confidence: 99%

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Ontogeny and cellular localization of SRY transcripts in the human testes and its detection in spermatozoa

Modi¹,

Shah²,

Sachdeva³

et al. 2005

Reproduction

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The sex-determining region on the Y (SRY) gene is unequivocally designated as the testis-determining factor in mammals; however, its roles beyond sex determination, if any, have been hitherto unknown. To determine whether SRY has any roles beyond sex determination, herein the expression of SRY mRNA was investigated in the midtrimester human fetal, infantile and adult testes as well as in ejaculated spermatozoa. High levels of SRY transcripts were in situ localized to the Sertoli cells of the developing testis at 9 weeks of gestation, and the expression persisted at comparable levels throughout the midtrimester (until 22 weeks) and also in the testis of an infant at 3 months of age. The germ cells and other somatic cells in the testes of fetuses and the infant were negative for SRY expression. The mRNA for SRY was detected in the spermatogenic cells, particularly the spermatogonia and the round spermatids; the expression was negligible in the meiotic stages. A single transcript of ,1.2 kb was detected in the adult testes and isolated spermatogonial cells. In the adult testis, in situ hybridization (ISH) studies revealed a switch in the cellular localization of SRY transcripts. SRY transcripts were also demonstrable by RT-PCR of RNA from ejaculated human spermatozoa. ISH revealed the presence of SRY transcripts in the midpiece of 50% of ejaculated sperm. These results suggest that SRY may have extensive roles in male reproductive physiology, such as maturation of fetal testis, spermatogenesis, sperm maturation and early embryonic development.

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“…For the other 30 patients, the sex-determining region Y gene, SRY (a specific marker for the Y chromosome), was identified by PCR amplification (Harley et al, 2003). The SRY primers used were described previously (Tu et al, 2008).…”

Section: Karyotype Analysis or Y Chromosome Identificationmentioning

confidence: 99%

Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome

Yang¹,

Zhao²,

Tu³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Mutations in the Wilms' tumor gene, WT1, can lead to syndromic steroid-resistant nephrotic syndrome and isolated steroidresistant nephrotic syndrome. WT1 mutations have been identified in the majority of children with Denys-Drash or Frasier syndrome. WT1 mutations have not previously been identified in boys with sporadic isolated steroidresistant nephrotic syndrome, but, recently, four boys with isolated nephrotic syndrome were identified to have WT1 mutations. However, whether boys with sporadic isolated steroid-resistant nephrotic syndrome should be routinely subjected to mutation analysis of WT1 has not been established. We examined 35 boys with sporadic isolated steroid-resistant nephrotic syndrome for mutations in WT1. Mutation analysis of all 10 exons of WT1 was performed by polymerase chain reaction and direct sequencing. all 35 patients. No causative WT1 mutation was identified in any of the patients. The WT1 mutation, IVS4+14T>C, which is not predicted to affect splicing, was identified in one patient who achieved complete remission after 8 weeks of oral prednisone treatment, indicating that IVS4+14T>C is not a causative mutation. Five WT1 polymorphisms were also identified in some patients and controls. Our results suggest that mutation analysis of WT1 should not be routinely performed for genetically defined boys with sporadic isolated steroid-resistant nephrotic syndrome.

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The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y Chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9]

Cited by 214 publications

References 176 publications

Cloning and expression of candidate sexual development genes in the cane toad (Bufo marinus)

Cloning and expression of candidate sexual development genes in the cane toad (Bufo marinus)

Ontogeny and cellular localization of SRY transcripts in the human testes and its detection in spermatozoa

Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome

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