title: Genomic sequence, organization, and chromosomal localization of human JAK3.
abstract: Members of the Janus (JAK) protein tyrosine kinase family including JAK3 have recently emerged as important components in cytokine signal transduction. Mutations of JAK3 have been found in a number of patients who present with severe combined immunodeficiency. To facilitate the further identification of JAK3-SCID patients and to understand the structure of JAK3 better, we undertook the determination of the genomic sequence, organization, and chromosomal localization of the JAK3 gene. The JAK3 gene was found to consist of 19 exons and 18 introns. Interestingly, the organization of the kinase-(JH1) and pseudokinase-(JH2) domains were found to be dissimilar. In addition, the JAK3 gene was localized to human chromosome 19p13.1. These data should facilitate the identification of patients with this new form of immunodeficiency and will provide insight into the structure of this kinase.
authors.affiliation: Lymphocyte Cell Biology Section, NIAMS, National Institutes of Health, Bethesda, Maryland 20892, USA. RiedyM@arb.niams.nih.gov
authors.forename: M C
authors.initials: MC
authors.lastname: Riedy
authors.forename: A S
authors.initials: AS
authors.lastname: Dutra
authors.forename: T B
authors.initials: TB
authors.lastname: Blake
authors.forename: W
authors.initials: W
authors.lastname: Modi
authors.forename: B K
authors.initials: BK
authors.lastname: Lal
authors.forename: J
authors.initials: J
authors.lastname: Davis
authors.forename: A
authors.initials: A
authors.lastname: Bosse
authors.forename: J J
authors.initials: JJ
authors.lastname: O'Shea
authors.forename: J A
authors.initials: JA
authors.lastname: Johnston
mesh_terms: D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D003001:Cloning, Molecular; D005091:Exons; D006801:Humans; D007438:Introns; D053616:Janus Kinase 3; D008969:Molecular Sequence Data; D011505:Protein-Tyrosine Kinases / Q000235:genetics*
chemical_list: D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; D053616:Janus Kinase 3