Absence of functional insulin receptor substrate-3 (IRS-3) gene in humans

Diabetologia. 2002 Dec;45(12):1697-702. doi: 10.1007/s00125-002-0945-z. Epub 2002 Sep 27.

Abstract

Aim/hypothesis: Insulin receptor substrate (IRS) proteins play important roles in insulin action and pancreatic beta-cell function. At least four mammalian IRS molecules have been identified. Although genes and cDNAs encoding human IRS-1, IRS-2, and IRS-4 have been cloned, IRS-3 has been identified only in rodents. Thus, we have attempted to clone the human IRS-3 gene.

Methods: Insulin-stimulated rat or human adipocytes were subjected to Western blot analysis to assess IRS-3 tyrosine phosphorylation. Human liver and adipose cDNA libraries were screened in an effort to clone IRS-3 cDNA. A PCR-based approach was designed to amplify IRS-3 cDNA. Reverse transcription PCR was carried out using mRNA from adipose tissue, liver, and skeletal muscle as templates in combination with an in silico screen using mouse IRS-1, IRS-2 and IRS-3 in a tblastn search of the draft public human genome.

Results: In human adipocytes we did not detect a M(r) 60 000 phosphoprotein corresponding to IRS-3, whereas in rat adipocytes IRS-3 protein and insulin-stimulated tyrosine phosphorylation was readily observed. None of the molecular approaches provided evidence for a functional IRS-3gene in human tissue. Two deletions in human IRS-3 gene were identified using bioinformatics. The human IRS-3 gene product is predicted to lack a phosphotyrosine binding domain and also the sequence corresponding amino acid 353-407 of murine IRS-3. The contiguous sequence of genomic DNA between these two homologous regions does not have the coding information for human IRS-3.

Conclusion/interpretation: In silico screening of the human IRS-3 genome region, combined with further biological and molecular validation, provides evidence against a functional IRS-3 in humans.

Publication types

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

MeSH terms

  • Adipocytes / metabolism
  • Adult
  • Amino Acid Sequence / genetics
  • Animals
  • Cloning, Molecular
  • Computational Biology
  • Female
  • Gene Deletion
  • Gene Library
  • Genome, Human
  • Humans
  • Insulin Receptor Substrate Proteins
  • Male
  • Mice
  • Middle Aged
  • Molecular Sequence Data
  • Phosphoproteins / deficiency*
  • Phosphoproteins / genetics*
  • Phosphoproteins / physiology
  • Phosphorylation
  • Rats
  • Reverse Transcriptase Polymerase Chain Reaction
  • Tyrosine / metabolism

Substances

  • IRS3P protein, human
  • Insulin Receptor Substrate Proteins
  • Irs3 protein, mouse
  • Irs3 protein, rat
  • Phosphoproteins
  • Tyrosine