Abstract
Jak3, a member of the Janus tyrosine kinase family is an intracellular kinase functionally coupled to cytokine receptors that share a common γ chain (γc). Defects in the γc 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.
Similar content being viewed by others
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Brooimans, R., van der Slot, A., van den Berg, A. et al. Revised exon–intron structure of human JAK3 locus. Eur J Hum Genet 7, 837–840 (1999). https://doi.org/10.1038/sj.ejhg.5200375
Received:
Revised:
Accepted:
Published:
Issue date:
DOI: https://doi.org/10.1038/sj.ejhg.5200375
