Gonadal effects of a mouse Denys-Drash syndrome mutation.

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 immuno-expression 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 immuno-expression 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.

journal_name

Transgenic Res

journal_title

Transgenic research

authors

Patek CE,Saunders PT,Miles CG,Berry RL,Hastie ND,Sharpe RM,Hooper ML

doi

10.1007/s11248-005-7216-y

subject

Has Abstract

pub_date

2005-10-01 00:00:00

pages

691-702

issue

5

eissn

0962-8819

issn

1573-9368

journal_volume

14

pub_type

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