SRY

Gene SRY (Sex-determining region Y; Yp11.3; OMIM: *480000) has a very an important role in the development of the male sex'. From the point of view of karyotype, male gender is conditioned by the presence of chromosome Y - however, the gene SRY plays a decisive role. It encodes a specific transcription factor that is at the beginning of the cascade determining the development of the male sex. Mutations of this gene cause the development of a female phenotype (female 46,XY), which is associated with gonadal dysgenesis.

Since the SRY region is located near one of the pseudoautosomal regions (PAR1), the translocation of the SRY region to the chromosome X can occur in case of uneven crossing-over. In such a case, it is possible that the resulting sperm will fertilize the egg, giving rise to the so-called XY-females" (46,XY, there is no SRY region on the Y and their X chromosome is normal) or XX-males'' (46,XX, SRY is translocated on the paternal X chromosome, men affected in this way are usually affected by reproductive disorders, as other genes important for spermatogenesis have not been transferred ).

Related Articles

 * Gonosomes
 * Y chromosome
 * Chromosomal sex determination