1995
DOI: 10.1097/00006254-199502000-00020
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A Dosage Sensitive Locus at Chromosome Xp21 Is Involved in Male to Female Sex Reversal

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Cited by 394 publications
(55 citation statements)
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“…In addition, duplications of a region of the X chromosome containing DAX-1 cause dosage-sensitive sex reversal in XY individuals (MIM 300018). 3 Thus, it appears that DAX-1 is essential for the development of a functional hypothalamus-pituitary-gonadal axis. 1,2 Many different mutations in DAX-1 have been reported in sporadic and familial cases of AHC.…”
Section: Introductionmentioning
confidence: 99%
“…In addition, duplications of a region of the X chromosome containing DAX-1 cause dosage-sensitive sex reversal in XY individuals (MIM 300018). 3 Thus, it appears that DAX-1 is essential for the development of a functional hypothalamus-pituitary-gonadal axis. 1,2 Many different mutations in DAX-1 have been reported in sporadic and familial cases of AHC.…”
Section: Introductionmentioning
confidence: 99%
“…The SOX9 gene when mutated causes campomelic dysplasia together with gonadal dysgenesis in 46,XY subjects (8,9), while a SOX9 duplication is sufficient to cause testis development in a 46,XX embryo (10). WNT4 (11) and NR0B1 (nuclear receptor subfamily 0, group B, member 1, also known as DAX1) locus duplications are responsible for 46,XY gonadal dysgenesis (12), while mutations of NR0B1 cause congenital adrenal hypoplasia (13) and hypogonadic hypogonadism (14). Mutations in WNT4 have been reported in women with absence of uterus and signs of androgen excess (15,16).…”
mentioning
confidence: 99%
“…In mice, the knockout phenotype includes not only adrenal hypoplasia but also gonadal dysgenesis (15). When duplicated, 46, XY humans develop gonadal dysgenesis and male-to-female sex reversal, a phenomenon that requires significantly greater overexpression in mice (14,16,17). In potential explanation, expression of the NROB1 gene varies between humans and mice.…”
Section: Understanding the Normal Human Developmental Process Sex Detmentioning
confidence: 99%