Revised exon-intron structure of human JAK3 locus

Eur J Hum Genet. 1999 Oct-Nov;7(7):837-40. doi: 10.1038/sj.ejhg.5200375.

Abstract

Jak3, a member of the Janus tyrosine kinase family is an intracellular kinase functionally coupled to cytokine receptors that share a common gamma chain (gamma c). Defects in the gamma c or Jak3 result in T-B + severe combined immunodeficiency (SCID). In order to clarify discrepancies between earlier reported genomic organisations of human JAK3, the present study was undertaken to redefine its whole exon-intron structure. The genomic structure of human JAK3 consists of 23 exons and 22 introns, and shows strong homology with the organisation of the murine JAK3 locus. The exon-intron sequences provided in this report can be used to facilitate the identification of new Jak3-deficient SCID patients, including prenatal diagnosis.

MeSH terms

  • Animals
  • Base Sequence
  • Exons / genetics*
  • Humans
  • Introns / genetics*
  • Janus Kinase 3
  • Mice
  • Molecular Sequence Data
  • Protein-Tyrosine Kinases / genetics*
  • Sequence Analysis, DNA

Substances

  • Protein-Tyrosine Kinases
  • JAK3 protein, human
  • Jak3 protein, mouse
  • Janus Kinase 3

Associated data

  • GENBANK/AJ224652
  • GENBANK/AJ224653
  • GENBANK/AJ224654
  • GENBANK/AJ224655
  • GENBANK/AJ224656
  • GENBANK/AJ224657