title: Genomic structure and promoter region of the murine Janus-family tyrosine kinase, Jak3.
abstract: Genomic DNA sequences encoding the murine Janus family tyrosine kinase Jak3 were isolated to determine the intron-exon structure of the gene and to investigate the phylogeny of Jak-family kinases. The murine Jak3 gene comprises approximately 15 kbp of genomic DNA and consists of 23 exons. The organization of sequences encoding the pseudo-kinase domain of Jak3 is similar to the intron-exon structure encoding catalytic domains of Src-family tyrosine kinases, whereas the pattern of introns-exons encoding the Jak3 kinase domain shows no structural similarity to that of other tyrosine kinase genes. Genomic analysis further indicates that alternative splicing gives rise to different forms of the murine Jak3 mRNA encoding different isoforms of the Jak3 protein. Analysis of Jak3 intron-exon structure also suggests that a mutation in the human JAK3 gene responsible for a severe combined immune deficiency (SCID) phenotype results from aberrant splicing of the JAK3 transcript. Finally, potential regulatory sequences in the upstream region of the murine Jak3 gene were analyzed and are discussed in relation to the known expression pattern of Jak3.
authors.affiliation: Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA.
authors.forename: C B
authors.initials: CB
authors.lastname: Gurniak
authors.forename: D C
authors.initials: DC
authors.lastname: Thomis
authors.forename: L J
authors.initials: LJ
authors.lastname: Berg
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D004247:DNA; D019143:Evolution, Molecular; D005091:Exons; D006801:Humans; D007438:Introns; D053616:Janus Kinase 3; D051379:Mice; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism; D016511:Severe Combined Immunodeficiency / Q000201:enzymology / Q000235:genetics
chemical_list: D012333:RNA, Messenger; D004247:DNA; D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; C507935:Jak3 protein, mouse; D053616:Janus Kinase 3