Transgenic expression of the endothelin-B receptor prevents congenital intestinal aganglionosis in a rat model of Hirschsprung disease

J Clin Invest. 1998 Sep 15;102(6):1092-101. doi: 10.1172/JCI3702.

Abstract

The spotting lethal rat, a naturally occurring rodent model of Hirschsprung disease, carries a deletion in the endothelin-B receptor (EDNRB) gene that abrogates expression of functional EDNRB receptors. Rats homozygous for this mutation (sl) exhibit coat color spotting and congenital intestinal aganglionosis. These deficits result from failure of the neural crest-derived epidermal melanoblasts and enteric nervous system (ENS) precursors to completely colonize the skin and intestine, respectively. We demonstrate that during normal rat development, the EDNRB mRNA expression pattern is consistent with expression by ENS precursors throughout gut colonization. We used the human dopamine-beta-hydroxylase (DbetaH) promoter to direct transgenic expression of EDNRB to colonizing ENS precursors in the sl/sl rat. The DbetaH-EDNRB transgene compensates for deficient endogenous EDNRB in these rats and prevents the intestinal defect. The transgene has no effect on coat color spotting, indicating the critical time for EDNRB expression in enteric nervous system development begins after separation of the melanocyte lineage from the ENS lineage and their common precursor. The transgene dosage affects both the incidence and severity of the congenital intestinal defect, suggesting dosage-dependent events downstream of EDNRB activation in ENS development.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetylcholinesterase / isolation & purification
  • Animals
  • Animals, Genetically Modified
  • Enteric Nervous System / embryology*
  • Enteric Nervous System / pathology
  • Gene Dosage
  • Genetic Therapy / methods*
  • Hair Color / genetics
  • Hirschsprung Disease / mortality
  • Hirschsprung Disease / therapy*
  • Humans
  • Intestines / embryology*
  • Intestines / innervation
  • Intestines / pathology
  • Melanocytes
  • Promoter Regions, Genetic
  • RNA, Messenger / analysis
  • Rats
  • Rats, Mutant Strains
  • Receptor, Endothelin B
  • Receptors, Endothelin / biosynthesis*
  • Receptors, Endothelin / genetics
  • Skin / embryology
  • Stem Cells
  • Survival Analysis
  • Tissue Distribution

Substances

  • RNA, Messenger
  • Receptor, Endothelin B
  • Receptors, Endothelin
  • Acetylcholinesterase