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A phenotypic spectrum of sexual development in Dax1 (Nr0b1)-deficient mice: consequence of the C57BL/6J strain on sex determination.

Authors
 Susan Y. Park  ;  Eun-Jig Lee  ;  Donna Emge  ;  Carolyn L. Jahn  ;  J. Larry Jameson 
Citation
 BIOLOGY OF REPRODUCTION, Vol.79(6) : 1038-1045, 2008 
Journal Title
 BIOLOGY OF REPRODUCTION 
ISSN
 0006-3363 
Issue Date
2008
MeSH
Adaptor Proteins, Signal Transducing ; Animals ; Apoptosis/physiology ; DAX-1 Orphan Nuclear Receptor ; DNA-Binding Proteins/genetics* ; DNA-Binding Proteins/physiology* ; Female ; Immunohistochemistry ; In Situ Hybridization ; Male ; Meiosis/genetics ; Meiosis/physiology ; Mice ; Mice, Inbred C57BL/genetics* ; Mice, Inbred C57BL/physiology* ; Mice, Knockout ; Microscopy, Confocal ; Phenotype ; Proteins/genetics ; Reverse Transcriptase Polymerase Chain Reaction ; SOX9 Transcription Factor/genetics ; Sertoli Cells/physiology ; Sex Determination Processes* ; Sexual Maturation/genetics* ; Sexual Maturation/physiology* ; Up-Regulation/genetics ; Up-Regulation/physiology
Keywords
Dax1 ; developmental biology ; gamete biology ; germ cell sex ; Nr0b1 ; ovary ; Sertoli cells ; sex determination
Abstract
Nuclear receptor subfamily 0, group B, member 1 (Nr0b1; hereafter referred to as Dax1) is an orphan nuclear receptor that regulates adrenal and gonadal development. Dosage-sensitive sex reversal, adrenal hypoplasia congenita, critical region on the X chromosome, gene 1 (Dax1) mutations in the mouse are sensitive to genetic background. In this report, a spectrum of impaired gonadal differentiation was observed as a result of crossing the Dax1 knockout on the 129SvIm/J strain onto the C57BL/6J strain over two generations of breeding. Dax1-mutant XY mice of a mixed genetic background (129;B6Dax1(-/Y) [101 total]) developed gonads that were predominantly testislike (n = 61), ovarianlike (n = 27), or as intersex (n = 13). During embryonic development, Sox9 expression in the gonads of 129;B6Dax1(-/Y) mutants was distributed across a wide quantitative range, and a threshold level of Sox9 (>0.4-fold of wild-type) was associated with testis development. Germ cell fate also varied widely, with meiotic germ cells being more prevalent in the ovarianlike regions of embryonic gonads, but also observed within testicular tissue. Ptgds, a gene associated with Sox9 expression and Sertoli cell development, was markedly downregulated in Dax1(-/Y) mice. Stra8, a gene associated with germ cell meiosis, was upregulated in Dax1(-/Y) mice. In both cases, the changes in gene expression also occurred in pure 129 mice but were amplified in the B6 genetic background. Sertoli cell apoptosis was prevalent in 129;B6Dax1(-/Y) gonads. In summary, Dax1 deficiency on a partial B6 genetic background results in further modulation of gene expression changes that affect both Sertoli cell and germ cell fate, leading to a phenotypic spectrum of gonadal differentiation.
Files in This Item:
T200804847.pdf Download
DOI
10.1095/biolreprod.108.069492
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Eun Jig(이은직) ORCID logo https://orcid.org/0000-0002-9876-8370
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/108319
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