A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse

Bishop, Colin E., Whitworth, Deanne J., Qin, Yanjun, Agoulnik, Alexander I., Agoulnik, Irina A., Harrison, Wilbur R., Behringer, Richard R. and Overbeek, Paul A. (2000) A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse. Nature Genetics, 26 4: 490-494. doi:10.1038/82652


Author Bishop, Colin E.
Whitworth, Deanne J.
Qin, Yanjun
Agoulnik, Alexander I.
Agoulnik, Irina A.
Harrison, Wilbur R.
Behringer, Richard R.
Overbeek, Paul A.
Title A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1546-1718
1061-4036
Publication date 2000-12
Sub-type Letter to editor, brief commentary or brief communication
DOI 10.1038/82652
Volume 26
Issue 4
Start page 490
End page 494
Total pages 5
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Language eng
Abstract In most mammals, male development is triggered by the transient expression of the Y-chromosome gene, Sry, which initiates a cascade of gene interactions ultimately leading to the formation of a testis from the indifferent fetal gonad. Several genes, in particular Sox9, have a crucial role in this pathway. Despite this, the direct downstream targets of Sry and the nature of the pathway itself remain to be clearly established. We report here a new dominant insertional mutation, Odsex (Ods), in which XX mice carrying a 150-kb deletion (approximately 1 Mb upstream of Sox9) develop as sterile XX males lacking Sry. During embryogenesis, wild-type XX fetal gonads downregulate Sox9 expression, whereas XY and XX Ods/+ fetal gonads upregulate and maintain its expression. We propose that Ods has removed a long-range, gonad-specific regulatory element that mediates the repression of Sox9 expression in XX fetal gonads. This repression would normally be antagonized by Sry protein in XY embryos. Our data are consistent with Sox9 being a direct downstream target of Sry and provide genetic evidence to support a general repressor model of sex determination in mammals.
Q-Index Code CX
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Letter to editor, brief commentary or brief communication
Collection: School of Veterinary Science Publications
 
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Created: Wed, 09 Feb 2011, 11:46:02 EST by Dr Deanne Whitworth on behalf of School of Veterinary Science