...Rajini Sreenivasan; Nitzan Gonen; Andrew Sinclair SOX genesare master regulatory genes controlling development and are fundamental to the establishment of sex determination in a multitude of organisms. The discovery of the master sex-determining gene SRY in 1990 was pivotal for the understanding...

... sex determination but alter levels of other lncRNA [Mulvey et al., 2014]. [email protected] The mammalian SRY evolved from an ancient transcription factor, SRY-line HMG Box Transcription Factor 3 ( SOX3 ) simply by a rearrangement that sent its expression into the developing...

... of the TFs that control sex determination in vertebrates. The discovery of SRY [Gubbay et al., 1990; Sinclair et al., 1990], the Y chromosome-encoded mammalian testis determining factor, accelerated knowledge in this field by providing an entry point into the genetic cascade of which SRY is the initiator...

...Naoki Okashita; Makoto Tachibana Mammalian male sex differentiation is triggered during embryogenesis by the activation of the Y-linked testis-determining gene SRY . Since insufficient or delayed expression of SRY results in XY gonadal sex reversal, accurate regulation of SRY is critical for male...

... and SRY promoters. Subject 1 presented with a micropenis and hypospadias. Subject 2 showed complete female external genitalia with a 46,XY karyotype. Both patients were responsive to hCG stimulation tests and did not manifest CHD. A novel heterozygous variant, c.643A>G (p.R215G), in GATA4...

... karyotype based on chromosome analysis of amniotic fluid cells. Further analysis of her Y chromosome indicated that the additional Y chromosome contains no SRY gene on the short arm but carries the azoospermia factor region on the long arm, including azoospermia factor a, b and c (AZFa, AZFb, AZFc...

... hybridized to the related regions of the sex-determining region Y ( SRY ), centromere X/Y (CEP X/Y), and short stature homeobox ( SHOX ) genes. Simultaneous SNP array-CGH was conducted. As to our knowledge, we present the first patient with mosaic isodicentric Y chromosome with 3 different cell lines...

...Lisa De Lorenzi; Silvana Arrighi; Elena Rossi; Pierangela Grignani; Carlo Previderè; Stefania Bonacina; Fausto Cremonesi; Pietro Parma In mammals, the sex of the embryo depends on the SRY gene. In the presence of at least one intact and functional copy of this genetic factor (XY embryo...

... containing a Y chromosome can be missed. The aim of this study was to determine the presence and incidence of Y chromosome-derived material in TS patients using PCR and the markers SRY , DYZ1, DYZ3, DYS132, ZFY, and TSPY . Fifty-five TS patients (aged 5.5-26.75 years) were analyzed. A total of 17/55 (30.9...

...Izabela Szczerbal; Joanna Nowacka-Woszuk; Stanislaw Dzimira; Wojciech Atamaniuk; Wojciech Nizanski; Marek Switonski Testicular or ovotesticular disorder of sex development (DSD) in genetic females (78,XX; SRY -negative) has been reported quite frequently in numerous dog breeds and is usually...

.... Intersex Male Karyotype Testis Tomcat Sex chromosome DSD SRY Normal sexual development in mammals is a multi-step process that includes the establishment of chromosomal, gonadal, and phenotypic sex. Impairment in any of these pathways leads to abnormal sexual development [Lyle, 2007; Meyers...

... or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Disorders of sexual development FISH Gonadal mosaicism SRY 45,X mosaicism Gonadal development begins during the 5th week of gestation as bipotential gonads, composed...

... marker FOXL2 is detected in X*Y follicle cells and exhibits the same pattern as in XX and XX* ovaries, whereas SOX9 and DMRT1 are absent at all stages of follicular differentiation. However, surprisingly, X*Y ovaries display a higher level of Sry transcripts compared to testes. Our findings confirm...

.... Both patients showed short stature (boy –2.29 SDS, man –4.05 SDS) and an unbalanced translocation of Yp, including SRY , onto the long arm of chromosome 10 and short arm of chromosome 14, respectively. The growth pattern of the 2 patients and literature data suggest the presence of a specific growth...

... of ovotestis-like structures in the abdominal cavity. By RB-banding the animal showed the normal female equine karyotype (2n = 64,XX). Molecular analysis revealed the absence of the SRY and ZFY genes and the presence of ZFX , a typical female equine condition. The entire RSPO1 coding region was examined...

...I. Georg; S. Bagheri-Fam; K.C. Knower; P. Wieacker; G. Scherer; V.R. Harley During mouse sex determination, SRY upregulates the core testis-specific enhancer of Sox9 , TESCO. Mutations in human SRY are found in one third of cases with XY pure gonadal dysgenesis (XY GD; Swyer syndrome), while two...

...A. Sánchez; J.A. Marchal; I. Romero-Fernández; E. Pinna-Senn; M.I. Ortiz; J.L. Bella; J.A. Lisanti Several species of the South American genus Akodon present fully fertile XY females besides XX ones. To analyze the possibility of a Sry mutation as the cause of sex reversal in A. azarae...

... at CRL 12 (day 32). SRY expression began at CRL 18 (day 37) and peaked at CRL 20 (day 39), leading to a cascade of regulatory, signaling, and steroidogenic gene expression at later stages, detected by quantitative real-time RT-PCR and immunohistochemistry. Testis cords were distinguishable at CRL 27 (day...

...V. Díaz-Hernández; A. León del Río; M. Zamora; H. Merchant-Larios Sex determination in mammalian gonads depends on the concerted action of SRY and SOX at the genital ridge. Although most research on the mechanisms involved in sex determination has been done in mice, the study of non-model organisms...

...S.T. Bradford; D. Wilhelm; P. Koopman The Y chromosome gene SRY is the initiator of male sexual differentiation in mammals, but the molecular and cellular mechanisms operating downstream of SRY remain undefined. A deeper understanding of these issues relies on the ability to visualize SRY protein...