Identification and expression analysis of novel Jakmip 1 transcripts
Identification and expression analysis of novel Jakmip 1 transcripts
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DOI：
10.1016/j.gene.2007.07.001
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发表时间：
2007-11-01
期刊：
影响因子：
3.5
通讯作者：
Ciccodicola, Alfredo
中科院分区：
文献类型：
--
作者：
Costa, Valerio;Conte, Ivan;Ciccodicola, Alfredo
Janus激酶和微管相互作用蛋白1(Jakmip1)在脊椎动物中保守，主要在神经组织中表达，其与TYK2结合的能力被发现，TYK2是Janus激酶(JAK)非受体酪氨酸激酶家族的成员。最近，Jakmip1也被鉴定为GABA(B)R1的相互作用伙伴和GABA(B)R2 mRNA的调节蛋白。我们已经证实，该基因在大脑和视网膜组织中高度表达，在其他组织中也存在较低水平。我们已经鉴定出4个新的转录本，分别为2975、1743、2189和2420 bp，分别命名为Jakmip1B、Jakmip1C、Jakmip1D和Jakmip1E。Janus激酶通路参与小鼠视网膜的发育和控制人视网膜神经节细胞的存活和增殖，以及Jakmip1基因的限制性表达模式，提示该基因可能是神经退行性疾病和视网膜疾病的候选基因。出于这个原因，对50名无关的视网膜色素变性患者进行了Jakmip1基因的突变分析，没有发现致病突变。(C)2007 Elsevier B.V.保留所有权利。
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. (C) 2007 Elsevier B.V. All rights reserved.