The zebrafish mutants for the V-ATPase subunits d, ac45, E, H and c and their variable pigment dilution phenotype.
The zebrafish mutants for the V-ATPase subunits d, ac45, E, H and c and their variable pigment dilution phenotype.
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DOI：
10.1186/1756-0500-6-39
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发表时间：
2013-02-02
影响因子：
1.8
通讯作者：
Maldonado E
中科院分区：
文献类型：
--
作者：
Ramos-Balderas JL;Carrillo-Rosas S;Guzman A;Navarro RE;Maldonado E
V-ATP酶是一种质子泵，可产生溶酶体功能和囊泡运输所必需的酸性介质。它对若干发展进程也至关重要。许多酶，如V-ATP酶，是多个亚基的集合体，其中每个亚基都执行实现完整活性所需的特定功能。在斑马鱼V-ATPase中，15个不同的亚基形成这种多聚体复合物，并且这些亚基中的任何一个的突变诱导色素减退或色素稀释表型。我们以前已经发现的V-ATPase斑马鱼突变体之间的色素稀释表型的变化。这项工作提供了关于这些差异的更多信息，是对前一份报告的更新。我们描述了斑马鱼V-ATP酶色素稀释突变体中观察到的不同表型的严重程度，研究了它们相应基因的mRNA表达水平。同时对这些基因进行了系统发育分析。基于不同色素稀释突变体之间的相似性，我们认为V-ATP酶在黑素体生物发生和黑素细胞存活中起着重要作用。这里研究的不同V-ATP酶亚基的可变表达水平或重复基因的存在似乎都不能解释这组突变体的可变表型严重性。我们相信，在来自斑马鱼V-ATP酶插入突变体的色素稀释表型和在化学筛选中获得的色素突变体（“Tubingen色素沉着突变体”）之间存在一些相似性。对于这些“Tubingen突变体”中的一些，尚未发现突变基因，我们认为V-ATPase基因的突变可能导致其缺陷。
The V-ATPase is a proton pump that creates an acidic medium, necessary for lysosome function and vesicular traffic. It is also essential for several developmental processes. Many enzymes, like the V-ATPase, are assemblies of multiple subunits, in which each one performs a specific function required to achieve full activity. In the zebrafish V-ATPase 15 different subunits form this multimeric complex and mutations in any of these subunits induce hypopigmentation or pigment dilution phenotype. We have previously found variability in the pigment dilution phenotype among five of the V-ATPase zebrafish mutants. This work presents additional information about such differences and is an update from a previous report. We describe the variable phenotype severity observed among zebrafish V-ATPase pigment dilution mutants studying mRNA expression levels from their corresponding genes. At the same time we carried out phylogenetic analysis for this genes. Based in the similarities between different pigment dilution mutants we suggest that there is an essential role for V-ATPases in melanosome biogenesis and melanocyte survival. Neither variable expression levels for the different V-ATPase subunits studied here or the presence of duplicated genes seems to account for the variable phenotype severity from this group of mutants. We believe there are some similarities between the pigment dilution phenotype from zebrafish V-ATPase insertional mutants and pigment mutants obtained in a chemical screening (“Tubingen pigmentation mutants”). As for some of these “Tubingen mutants” the mutated gene has not been found we suggest that mutations in V-ATPase genes may be inducing their defects.