title: Identification and expression analysis of novel Jakmip1 transcripts.
abstract: Janus kinase and microtubule interacting protein 1, (Jakmip1) conserved in vertebrates and predominantly expressed in neural tissues, was identified for its ability to bind Tyk2, a member of the Janus kinase (Jak) family of non-receptor tyrosine kinases. Recently Jakmip1 was also identified as an interacting partner of GABA(B)R1 and as a regulatory protein of GABA(B)R2 mRNA. We have confirmed that this gene is highly expressed in brain and retina tissues and it is also present at lower levels in other tissues. We have identified four new transcripts of 2975 bp, 1743 bp, 2189 bp and 2420 bp respectively, named Jakmip1B, Jakmip1C, Jakmip1D and Jakmip1E. The involvement of the Janus kinase pathway in the development of mouse retina and in the control of survival and proliferation of human retinal ganglion cells, together with the restricted Jakmip1 gene expression pattern, may suggest this gene is a putative candidate for neuro-degenerative and retinal diseases. For this reason, a mutation analysis of the Jakmip1 gene in a panel of 50 unrelated patients with retinitis pigmentosa has been performed, revealing no pathogenic mutations.
authors.affiliation: Institute of Genetics and Biophysics A. Buzzati-Traverso, CNR, Via Pietro Castellino 111, 80131 Naples, Italy.
authors.forename: Valerio
authors.initials: V
authors.lastname: Costa
authors.forename: Ivan
authors.initials: I
authors.lastname: Conte
authors.forename: Carmela
authors.initials: C
authors.lastname: Ziviello
authors.forename: Amelia
authors.initials: A
authors.lastname: Casamassimi
authors.forename: Giovanna
authors.initials: G
authors.lastname: Alfano
authors.forename: Sandro
authors.initials: S
authors.lastname: Banfi
authors.forename: Alfredo
authors.initials: A
authors.lastname: Ciccodicola
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics* / Q000378:metabolism; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D045744:Cell Line, Tumor; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D015870:Gene Expression; D006801:Humans; D008957:Models, Genetic; D008969:Molecular Sequence Data; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000378:metabolism; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C484851:JAKMIP1 protein, human; D020033:Protein Isoforms; D016601:RNA-Binding Proteins