Rab25 is involved in hypospadias via the β1 integrin/EGFR pathway

Exp Cell Res. 2024 Mar 15;436(2):113980. doi: 10.1016/j.yexcr.2024.113980. Epub 2024 Feb 23.

Abstract

Background: Hypospadias is a common congenital abnormality of the penile. Abnormal regulation of critical genes involved in urethral development leads to hypospadias. We used the Rab25-/- mice and foreskin fibroblasts transfected with lentivirus in vitro and in vivo to investigate the role of Rab25 in hypospadias.

Methods: The expression levels of various molecules in tissue samples and foreskin fibroblasts were confirmed using molecular biology methods (western blotting, PCR, immunohistochemistry, etc.). A scanning electron microscope (SEM) was used to visualize the external morphology of genital tubercles (GTs) of gestation day (GD) 18.5 male wild-type (WT) and Rab25-/- mice.

Results: An expanded distal cleft and V-shaped urethral opening were observed in GD 18.5 Rab25-/- mice. We demonstrated that Rab25 mediated hypospadias through the β1 integrin/EGFR pathway. In addition, silencing Rab25 inhibited cell proliferation and migration and promoted apoptosis in the foreskin fibroblasts; Ki-67- and TUNEL-positive cells were mainly concentrated near the urethral seam.

Conclusion: These findings suggest that Rab25 plays an essential role in hypospadias by activation of β1 integrin/EGFR pathway, and Rab25 is a critical mediator of urethral seam formation in GD18.5 male fetal mice.

Keywords: EGFR; Genital tubercle; Hypospadias; Rab25; β1 integrin.

MeSH terms

  • Animals
  • ErbB Receptors / metabolism
  • Humans
  • Hypospadias* / genetics
  • Hypospadias* / metabolism
  • Integrin beta1 / genetics
  • Integrin beta1 / metabolism
  • Male
  • Mice
  • Penis / metabolism
  • Urethra / metabolism
  • rab GTP-Binding Proteins / genetics

Substances

  • Integrin beta1
  • ErbB Receptors
  • Rab25 protein, human
  • rab GTP-Binding Proteins
  • EGFR protein, human