[DAX-1 abnormality].
DAX-1 is an orphan nuclear receptor that plays a key role in the development and function of the adrenal gland and hypothalamic-pituitary-gonadal axis. Absence of DAX-1 results in X-linked adrenal hypoplasia congenita, a human inherited disorder characterized by adrenal insufficiency and hypogonadotropic hypogonadism. The DAX-1 gene may be responsible for a male-to-female sex reversal syndrome, referred to as dosage sensitive sex reversal(DSS), due to the duplication of a small region of human chromosome Xp21. Dax-1 and Sry have been shown to act antagonistically in the mouse system, where over-expression of Dax-1 leads to female development and increasing activity of Sry to male development. Although these data strongly implicate Dax-1 in sex determination, there is no evidence that DAX-1 is equivalent to DSS in human.
Kinoshita
Ei-ichi
E
Department of Pediatrics, Nagasaki University School of Medicine.
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics; D000818:Animals; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008297:Male; D051379:Mice; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*
D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; C539966:Nr0b1 protein, mouse; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D014157:Transcription Factors