WNT4 and RSPO1 Are Not Involved in a Case of Male-to-Female Sex Reversal with Partial Duplication of 1p | Zendy

Peter Wieacker | Zendy; Marianne Volleth | Zendy

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<i>WNT4</i> and <i>RSPO1</i> Are Not Involved in a Case of Male-to-Female Sex Reversal with Partial Duplication of 1p

Author(s) -

Peter Wieacker,

Marianne Volleth

Publication year - 2007

Publication title -

sexual development

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.528

H-Index - 44

eISSN - 1661-5433

pISSN - 1661-5425

DOI - 10.1159/000100032

Subject(s) - biology , testis determining factor , gene duplication , wnt4 , sex reversal , genetics , gene , medicine , y chromosome , wnt signaling pathway

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.

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