Essential role of RGS-PX1/sorting nexin 13 in mouse development and regulation of endocytosis dynamics

Proc Natl Acad Sci U S A. 2006 Nov 7;103(45):16776-81. doi: 10.1073/pnas.0607974103. Epub 2006 Oct 31.

Abstract

RGS-PX1 (also known as sorting nexin 13) is a member of both the regulator of G protein signaling (RGS) and sorting nexin (SNX) protein families. Biochemical and cell culture studies have shown that RGS-PX1/SNX13 attenuates Galphas-mediated signaling through its RGS domain and regulates endocytic trafficking and degradation of the epidermal growth factor receptor. To understand the functions of RGS-PX1/SNX13 in vivo, we generated mice carrying targeted mutations of Snx13 and found that systemic Snx13-null mice were embryonic lethal around midgestation. Snx13-null embryos had significant overall growth retardation and defects in neural tube closure, blood vessel formation, and the formation of the placental labyrinthine layer. Moreover, the Snx13-null visceral yolk sac endoderm cells showed dramatic changes in the organization of endocytic compartments, abundant autophagic vacuoles, and abnormal localization of several endocytic markers, including megalin, a receptor for nutrients and proteins; ARH, a coat protein that binds megalin; LAMP2; and LC3. These changes suggest that Snx13-null embryos are defective in nutrient uptake and transport, which may contribute to the other developmental abnormalities observed. Taken together, our findings demonstrate an essential role for RGS-PX1/SNX13 in mouse development and provide previously undescribed insights into its cellular function in the regulation of endocytosis dynamics.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Autophagy
  • Base Sequence
  • Carrier Proteins / genetics
  • Carrier Proteins / physiology*
  • DNA / genetics
  • Embryonic Development / physiology*
  • Endocytosis / physiology*
  • Endosomes / pathology
  • Female
  • Fetal Growth Retardation / etiology
  • Gene Targeting
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Neovascularization, Physiologic
  • Neural Tube Defects / etiology
  • Placenta / abnormalities
  • Pregnancy
  • Sorting Nexins
  • Vacuoles / pathology
  • Vesicular Transport Proteins / deficiency
  • Vesicular Transport Proteins / genetics
  • Vesicular Transport Proteins / physiology*

Substances

  • Carrier Proteins
  • Sorting Nexins
  • Vesicular Transport Proteins
  • DNA