title: WNT4 and RSPO1 are not involved in a case of male-to-female sex reversal with partial duplication of 1p.
abstract: Some studies suggest that WNT4 signaling acts to repress the male pathway and a single case of duplication of WNT4 located in 1p35 has been associated with ambiguous genitalia. Recently, RSPO1 located in 1p34.3 was shown to be essential in sex determination. We show that neither WNT4 nor RSPO1 are duplicated in another case of male-to-female sex reversal with partial duplication of 1p. Therefore, it can be assumed that in male-to-female sex reversal associated with duplication of 1p, other genetic factors may be involved.
authors.affiliation: Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany. peter.wieacker@medizin.uni-magdeburg.de
authors.forename: P
authors.initials: P
authors.lastname: Wieacker
authors.forename: M
authors.initials: M
authors.lastname: Volleth
mesh_terms: D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D012734:Disorders of Sex Development; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D019699:Thrombospondins / Q000235:genetics / Q000502:physiology*; D051153:Wnt Proteins / Q000235:genetics / Q000502:physiology*; D060528:Wnt4 Protein; D000098907:R-Spondins
chemical_list: D019699:Thrombospondins; D051153:Wnt Proteins; D060528:Wnt4 Protein; C503243:RSPO1 protein, human; D000098907:R-Spondins; C555581:WNT4 protein, human