Combined haploinsufficiency of SF-1 and GATA4 does not reveal a genetic interaction in mouse gonadal development

C. Pelusi, L. Zhao, N. R. Stallings, K. L. Parker

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

The nuclear receptor steroidogenic factor 1 (SF-1 or NR5A1) and the zinc finger protein GATA4 mediate key events in the early steps of gonadal development and sex differentiation, presumably by activating the expression of essential target genes. An important SF-1 target in male sex differentiation is the gene encoding the anti-Müllerian hormone (AMH), which induces regression of the Müllerian ducts in the developing male embryo. In cell transfection studies, there is apparent cooperation between GATA4 and SF-1 in the regulation of both human and mouse Amh promoters. We hypothesized that compound haploinsufficiency of both SF-1 and GATA4, by reducing their synergism, might cause a more severe phenotype than that seen in mice that were heterozygous for either SF-1 or Gata4 alone. Surprisingly, in adult and embryonic mice, compound haploinsufficiency of SF-1 and GATA4 caused no gonadal or reproductive abnormalities beyond those seen in SF-1+/- mice. Thus, although cooperation between SF-1 and GATA4 very likely is important for regulation of their target genes, such synergy was not revealed in our in vivo studies of gonadal development and function.

Original languageEnglish (US)
Pages (from-to)152-160
Number of pages9
JournalSexual Development
Volume1
Issue number3
DOIs
StatePublished - Jun 2007

Fingerprint

Haploinsufficiency
Sex Differentiation
Steroidogenic Factor 1
Essential Genes
Zinc Fingers
Cytoplasmic and Nuclear Receptors
Genes
Transfection
Embryonic Structures
Hormones
Phenotype
Proteins

Keywords

  • AMH
  • GATA4
  • Gonadogenesis
  • Sexual development
  • SF-1
  • Testosterone

ASJC Scopus subject areas

  • Developmental Biology
  • Embryology
  • Endocrinology, Diabetes and Metabolism

Cite this

Combined haploinsufficiency of SF-1 and GATA4 does not reveal a genetic interaction in mouse gonadal development. / Pelusi, C.; Zhao, L.; Stallings, N. R.; Parker, K. L.

In: Sexual Development, Vol. 1, No. 3, 06.2007, p. 152-160.

Research output: Contribution to journalArticle

Pelusi, C. ; Zhao, L. ; Stallings, N. R. ; Parker, K. L. / Combined haploinsufficiency of SF-1 and GATA4 does not reveal a genetic interaction in mouse gonadal development. In: Sexual Development. 2007 ; Vol. 1, No. 3. pp. 152-160.
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