Targeted disruption of Huntingtin-associated protein-1 (Hap1) results in postnatal death due to depressed feeding behavior

Hum Mol Genet. 2002 Apr 15;11(8):945-59. doi: 10.1093/hmg/11.8.945.

Abstract

HAP-1 is a huntingtin-associated protein that is enriched in the brain. To gain insight into the normal physiological role of HAP-1, mice were generated with homozygous disruption at the Hap1 locus. Loss of HAP-1 expression did not alter the gross brain expression levels of its interacting partners, huntingtin and p150glued. Newborn Hap1(-/-) animals are observed at the expected Mendelian frequency suggesting a non-essential role of HAP-1 during embryogenesis. Postnatally, Hap1(-/-) pups show decreased feeding behavior that ultimately leads to malnutrition, dehydration and premature death. Seventy percent of Hap1(-/-) pups fail to survive past the second postnatal day (P2) and 100% of Hap1(-/-) pups fail to survive past P9. From P2 until death, Hap1(-/-) pups show markedly decreased amounts of ingested milk. Hap1(-/-) pups that survive to P8 show signs of starvation including greatly decreased serum leptin levels, decreased brain weight and atrophy of the brain cortical mantel. HAP-1 is particularly enriched in the hypothalamus, which is well documented to regulate feeding behavior. Our results demonstrate that HAP-1 plays an essential role in regulating postnatal feeding.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animal Nutritional Physiological Phenomena
  • Animals
  • Animals, Suckling
  • Body Constitution
  • Dynactin Complex
  • Eating / genetics
  • Eating / physiology*
  • Homozygote
  • Huntingtin Protein
  • Hypothalamus / embryology
  • Hypothalamus / metabolism
  • Leptin / metabolism
  • Mice
  • Microtubule-Associated Proteins / metabolism
  • Mutagenesis, Site-Directed
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Nerve Tissue Proteins / physiology*
  • Neurons / pathology
  • Nuclear Proteins / metabolism
  • Starvation / genetics
  • Starvation / metabolism

Substances

  • Dynactin Complex
  • Hap1 protein, mouse
  • Htt protein, mouse
  • Huntingtin Protein
  • Leptin
  • Microtubule-Associated Proteins
  • Nerve Tissue Proteins
  • Nuclear Proteins