Alternative Gnas gene products have opposite effects on glucose and lipid metabolism

Proc Natl Acad Sci U S A. 2005 May 17;102(20):7386-91. doi: 10.1073/pnas.0408268102. Epub 2005 May 9.

Abstract

Gnas is an imprinted gene with multiple gene products resulting from alternative splicing of different first exons onto a common exon 2. These products include stimulatory G protein alpha-subunit (G(s)alpha), the G protein required for receptor-stimulated cAMP production; extralarge G(s)alpha (XLalphas), a paternally expressed G(s)alpha isoform; and neuroendocrine-specific protein (NESP55), a maternally expressed chromogranin-like protein. G(s)alpha undergoes tissue-specific imprinting, being expressed primarily from the maternal allele in certain tissues. Heterozygous mutation of exon 2 on the maternal (E2m-/+) or paternal (E2+/p-) allele results in opposite effects on energy metabolism. E2m-/+ mice are obese and hypometabolic, whereas E2+/p- mice are lean and hypermetabolic. We now studied the effects of G(s)alpha deficiency without disrupting other Gnas gene products by deleting G(s)alpha exon 1 (E1). E1+/p- mice lacked the E2+/p- phenotype and developed obesity and insulin resistance. The lean, hypermetabolic, and insulin-sensitive E2+/p- phenotype appears to result from XLalphas deficiency, whereas loss of paternal-specific G(s)alpha expression in E1+/p- mice leads to an opposite metabolic phenotype. Thus, alternative Gnas gene products have opposing effects on glucose and lipid metabolism. Like E2m-/+ mice, E1m-/+ mice had s.c. edema at birth, presumably due to loss of maternal G(s)alpha expression. However, E1m-/+ mice differed from E2m-/+ mice in other respects, raising the possibility for the presence of other maternal-specific gene products. E1m-/+ mice had more severe obesity and insulin resistance and lower metabolic rate relative to E1+/p- mice. Differences between E1m-/+ and E1+/p- mice presumably result from differential effects on G(s)alpha expression in tissues where G(s)alpha is normally imprinted.

Publication types

  • Comparative Study

MeSH terms

  • Alternative Splicing / genetics*
  • Analysis of Variance
  • Animals
  • Blood Glucose
  • Blotting, Northern
  • Body Composition
  • Chromogranins
  • DNA Primers
  • Energy Metabolism / genetics*
  • GTP-Binding Protein alpha Subunits, Gs / genetics
  • GTP-Binding Protein alpha Subunits, Gs / metabolism*
  • Genetic Vectors
  • Genomic Imprinting / genetics*
  • Glucose / metabolism*
  • Insulin Resistance / genetics
  • Lipid Metabolism*
  • Mice
  • Mice, Knockout
  • Mutation / genetics
  • Phenotype*
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • Radioimmunoassay
  • Triglycerides / blood

Substances

  • Blood Glucose
  • Chromogranins
  • DNA Primers
  • Protein Isoforms
  • Triglycerides
  • Gnas protein, mouse
  • GTP-Binding Protein alpha Subunits, Gs
  • Glucose