Erbliche Genetik: Aktuelle Forschung

Abstrakt

Gonadal Dysgenesis-with Special Emphasis on the Molecular Mechanisms of SRY Mutations in Disorders of Sex Development (DSD) Reulting in Female Sex Reversal in 46XY Males

Kulvinder Kochar Kaur

SRY related high mobility group box (Sox) transcription factors have emerged in the animal kingdom to help cells maintain stemness, commit to a specific lineage, proliferate or die. Encoded by 20 genes in humans and mice they show a highly conserved high-mobility group boxdomain, which was originally identified in SRY, the sex determining region on the Y chromosome. This has derived from a high mobility group domain characterized of chromatin associated proteins. HMG (high mobility group) non histone chromosomal proteins include the AT hook, HMGN, and HMG domain families.