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Evidence for NR2F2/COUP-TFII involvement in human testis development.

Somboon Wankanit1,2, Housna Zidoune1,3, Joëlle Bignon-Topalovic1

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|August 1, 2024
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Summary

A novel NR2F2 gene variant impairs the function of COUP-TFII, a nuclear receptor crucial for human testis development and function, impacting gonad formation in 46,XY individuals. This discovery sheds light on disorders of sex development (DSD).

Keywords:
46,XY disorders/differences of sex development/differentiation (DSD)COUP-TFIINR2F2Sex determinationUnder-virilization

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Area of Science:

  • Endocrinology
  • Genetics
  • Developmental Biology

Background:

  • NR2F2 encodes the orphan nuclear receptor COUP-TFII, essential for murine fetal gonad development.
  • Human NR2F2 variants are linked to 46,XX true hermaphroditism, but COUP-TFII's role in the human testis remains unclear.

Purpose of the Study:

  • To investigate the function of COUP-TFII in human testis development.
  • To characterize a novel NR2F2 variant found in a patient with 46,XY disorders of sex development (DSD).

Main Methods:

  • Genetic analysis of a patient with 46,XY DSD.
  • In vitro studies of NR2F2 variant protein stability, localization, and interaction with NR5A1.
  • Reporter assays to assess NR5A1-mediated gene activation.

Main Results:

  • A de novo heterozygous NR2F2 variant (p.Arg246His) was identified in a 46,XY under-masculinized boy with primary hypogonadism.
  • The mutant COUP-TFII protein did not affect interaction with NR5A1 but lost its inhibitory effect on NR5A1-mediated LHB and INSL3 promoter activation.
  • These findings suggest COUP-TFII plays a role in human testis formation.

Conclusions:

  • COUP-TFII is implicated in human testis development and function.
  • This study expands the list of genes involved in both 46,XX and 46,XY DSD, including NR2F2, NR5A1, and WT1.