Abstract The Y chromosome–linked gene sex-determining region (SRY) is believed to be the master initiator of male sex determination in almost all eutherian mammals, functioning upregulate expression its direct target SRY-related HMG box–containing 9 (SOX9). XX maleness humans a rare syndrome with frequency 1 20,000–25,000 males. Approximately 90% these cases carry some amount chromosome sequenc...

Transfer of certain Mus domesticus-derived Y chromosomes (Sry(DOM) alleles, e.g., Sry(POS) and Sry(AKR)) onto the C57BL/6J (B6) mouse strain causes abnormal gonad development due to an aberrant interaction between the Sry(DOM) allele and the B6-derived autosomal (tda) genes. For example, B6 XY(POS) fetuses develop ovaries and ovotestes and B6 XY(AKR) fetuses have delayed testis cord development...

Neurotrophin 3 (Ntf3) is expressed in Sertoli cells and acts as a chemo-attractant for cell migration from the mesonephros into the developing testis, a process critical to the early morphological events of testis cord formation. The male sex-determining gene Sry initiates the process of testicular development. Sox9 is a key regulator of male sex determination and is directly regulated by SRY. ...

SRY-mutation-caused sex reversal is a rare disease and mostly associated with a de novo mutation since the patients with defective SRY is infertile. There are many reports about SRY-mutation associated 46, XY ovarian disorder of sex development (DSD), but few described their molecular mechanism. Here we report a de novo mutation 224G>T (R75M) in SRY associated with a phenotypic female, 46, XY k...

SRY, a Y chromosome-encoded DNA-binding protein, is required for testis organogenesis in mammals. Expression of the SRY gene in the genital ridge is followed by diverse early cell events leading to Sertoli cell determination/differentiation and subsequent sex cord formation. Little is known about SRY regulation and its mode of action during testis development, and direct gene targets for SRY ar...

SRY is a sex-determining gene that encodes a transcription factor, which triggers male development in most mammals. The molecular mechanism of SRY action in testis determination is, however, poorly understood. In this study, we demonstrate that WDR5, which encodes a WD-40 repeat protein, is a direct target of SRY. EMSA experiments and ChIP assays showed that SRY could bind to the WDR5 gene prom...

Sex determination in all mammals is initiated by the Sry locus on the Y chromosome. Sry is a member of the large Sox HMG gene family postulated to have evolved from an ancestor of its paralogue on the Y chromosome, Sox3. This study investigates the relationship of Sry to the Sox genes of other animals, rooted against the HMG protein genes of a number of protists. It also looks at the evolution ...

Sry (sex-determining region on the Y chromosome) is a master gene that initiates testis differentiation of the bipotential indifferent gonad in mammals. In mice, Sry expression is transiently activated in a center-to-pole wave along the anteroposterior (AP) axis of developing XY gonads. Shortly after the onset of Sry activation, Sox9 (Sry-related HMG box-9), a fundamental testis-differentiation...

The sex-determining region of Chr Y (Sry) gene is sufficient to induce testis formation and the subsequent male development of internal and external genitalia in chromosomally female mice and humans. In XX sex-reversed males, such as XX/Sry-transgenic (XX/Sry) mice, however, testicular germ cells always disappear soon after birth because of germ cell-autonomous defects. Therefore, it remains un...