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.[1]
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 ).
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- ↑ KOČÁREK EDUARD, PÁNEK MARTIN and NOVOTNÁ DRAHUŠE. Clinical cytogenetics I: an introduction to clinical cytogenetics. 2., ed. Prague: Karolinum, 2010, 134 p.
