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Gonadal effects of a mouse Denys-Drash Syndrome mutation

Lookup NU author(s): Dr Colin Miles

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Abstract

Gonadal effects of the Denys-Drash syndrome (DDS) mutation Wt1 tmT396 were examined in chimaeric and heterozygous mice. Since the only heterozygote was 41,XXY, Sertoli cell function was assessed by comparison with age-matched control XXY testes. Control XXY Sertoli cells showed immunoexpression of WT1 and androgen receptor (AR) indistinguishable from wild-type (40,XY), but expressed anti-Mullerian hormone (AMH). In contrast, DDS Sertoli cells showed only faint immunoexpression of WT1 and did not express AR or AMH. While XY ↔ XY DDS chimaeras were male, XX ↔ XY chimaeras were predominantly female. In the rare XX ↔ XY DDS males the Sertoli cell lineage was largely derived from Wt1 mutant XY cells. We conclude that DDS mutant cells can form Sertoli cells, that the dominant mutation does not cause male sex reversal in mice but distorts the sex ratio of XX ↔ XY chimaeras, and that there may be a link between WT1, AMH and AR expression by Sertoli cells in vivo. © Springer 2005.


Publication metadata

Author(s): Patek CE, Saunders PTK, Miles CG, Berry RL, Hastie ND, Sharpe RM, Hooper ML

Publication type: Article

Publication status: Published

Journal: Transgenic Research

Year: 2005

Volume: 14

Issue: 5

Pages: 691-702

ISSN (print): 0962-8819

ISSN (electronic): 1573-9368

Publisher: Springer Netherlands

URL: http://dx.doi.org/10.1007/s11248-005-7216-y

DOI: 10.1007/s11248-005-7216-y

PubMed id: 16245160


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