title: Revised exon-intron structure of human JAK3 locus.
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.
authors.affiliation: Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, The Netherlands. R.Brooimans@wkz.azu.nl
authors.forename: R A
authors.initials: RA
authors.lastname: Brooimans
authors.forename: A J
authors.initials: AJ
authors.lastname: van der Slot
authors.forename: A J
authors.initials: AJ
authors.lastname: van den Berg
authors.forename: B J
authors.initials: BJ
authors.lastname: Zegers
mesh_terms: D000818:Animals; D001483:Base Sequence; D005091:Exons / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics*; D053616:Janus Kinase 3; D051379:Mice; D008969:Molecular Sequence Data; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; C507935:Jak3 protein, mouse; D053616:Janus Kinase 3