Characterization of pip5k3 fleck corneal dystrophy-linked gene in zebrafish
Characterization of pip5k3 fleck corneal dystrophy-linked gene in zebrafish
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DOI：
10.1016/j.gep.2008.04.007
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发表时间：
2008-07-01
影响因子：
1.2
通讯作者：
Schorderet, Daniel F.
中科院分区：
文献类型：
--
作者：
Boisset, Gaelle;Polok, Bozena K.;Schorderet, Daniel F.
PIKfyve是一种由pip5k3编码的激酶，参与磷脂酰肌醇（pdtin）途径。这些构建细胞膜的脂质具有结构功能，并参与复杂的细胞内调节。人类PIP5K3基因突变与角膜营养不良的相关性研究[J]， Li， S., Tiab， L., Jiao， X., Munier， F.L, Zografos， L., Frueh, b.e., Sergeev， Y., Smith， J., Rubin， B., Meallet， M.A, Forster, r.k., Hejtmancik， J.F, Schorderet， D.F, 2005。PIP5K3突变与francois - netens mouchetee斑点性角膜营养不良有关。点。j .的嗡嗡声。[j].中国生物医学工程学报，2016,33(5):559 - 567。我们克隆了斑马鱼pip5k3基因，并报道了其在成年鱼和发育过程中的分子特征和表达模式。斑马鱼的PIKfyve与人类的同源物相似度为70%。该基因包含42个外显子，呈现4个互剪接变异体。它在成人器官中广泛表达，并定位于角膜、晶状体、神经节细胞层、内核层和外限定膜等特定细胞类型。在卵裂早期胚胎中检测到Pip5k3转录本。然后在10点、18点和24倍频下均匀表达。在48 hpf、72 hpf和5 dpf时，其表达仅限于头部区域，在72 hpf和5 dpf时部分表达。3 dpf眼原位切片主要可见晶状体、外限定膜、内核层和神经节细胞层染色。在5 dpf处的眼睛中发现了类似的表达模式。在1、3和5 dpf处观察到剪接变异的时间调控，它们也在成人眼睛中被发现。(C) 2008 Elsevier B.V.版权所有
PIKfyve is a kinase encoded by pip5k3 involved in phosphatidylinositols (PdtIns) pathways. These lipids building cell membranes have structural functions and are involved in complex intracellular regulations. Mutations in human PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy [Li, S., Tiab, L., Jiao, X., Munier, F.L., Zografos, L., Frueh, B.E., Sergeev, Y., Smith, J., Rubin, B., Meallet, M.A., Forster, R.K., Hejtmancik, J.F., Schorderet, D.F., 2005. Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck Corneal dystrophy. Am. J. Hum. Genet. 77, 54-63]. We cloned the zebrafish pip5k3 and report its molecular characterization and expression pattern in adult fish as well as during development. The zebrafish PIKfyve was 70% similar to the human homologue. The gene encompassed 42 exons and presented four alternatively spliced variants. It had a widespread expression in the adult organs and was localized in specific cell types in the eye as the cornea, lens, ganglion cell layer, inner nuclear layer and outer limiting membrane. Pip5k3 transcripts were detected in early cleavage stage embryos. Then it was uniformly expressed at 10 somites, 18 somites and 24 hpf. Its expression was then restricted to the head region at 48 hpf, 72 hpf and 5 dpf and partial expression was found in somites at 72 hpf and 5 dpf. In situ on eye sections at 3 dpf showed a staining mainly in lens, outer limiting membrane, inner nuclear layer and ganglion cell layer. A similar expression pattern was found in the eye at 5 dpf. A temporal regulation of the spliced variants was observed at 1, 3 and 5 dpf and they were also found in the adult eye. (C) 2008 Elsevier B.V. All rights reserved.