Analysis of Sry duplications on the Rattus norvegicus Y-chromosome.
Analysis of Sry duplications on the Rattus norvegicus Y-chromosome.
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DOI：
10.1186/1471-2164-14-792
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发表时间：
2013-11-14
期刊：
影响因子：
4.4
通讯作者：
Milsted A
中科院分区：
文献类型：
--
作者：
Prokop JW;Underwood AC;Turner ME;Miller N;Pietrzak D;Scott S;Smith C;Milsted A
基因拷贝数变异在基因组进化中起着重要作用。在褐家鼠和其他啮齿类动物中，Y染色体积累了多个Sry基因座拷贝。这些拷贝数变异先前已与动物模型如自发性高血压大鼠（SHR）的表型变化相关联。这项研究的特点是在褐家鼠的Sry区域的Y染色体，同时解决的Sry蛋白质产品中看到的功能变异。在SHR中已鉴定出11个Sry基因座，其中1个（nonHMG Sry）含有移码突变。nonHMGSry在相关的WKY和SD大鼠品系中被发现和保守。本研究在SHR和WKY中鉴定了三个新的、以前未鉴定的Sry基因座（Sry 3BII、Sry 4和Sry 4A）。重复元件分析显示，许多LINE-L1元件的区域中的Sry拷贝之间的保守性丢失。此外，我们已经确定了一个逆转录转座拷贝Med 14的剪接mRNA，两个常染色体基因（Ccdc 110和HMGB 1）和正常的哺乳动物Y染色体基因（Zfy）在大鼠Y染色体的Sry区域。每个Sry基因的序列的翻译揭示了八种蛋白质，其氨基酸差异导致Sry响应基因的核定位和启动子激活的变化。Sry-β（由Sry 2基因座编码）由于氨基酸21处的改变而具有增加的细胞质分数。由于氨基酸76的改变，Sry-γ改变了Sry 1启动子的基因调控。Sry在褐家鼠Y染色体上的复制导致了功能能力改变的蛋白质，这些蛋白质可能被选择用于除了睾丸决定之外的功能。此外，Y染色体上通常不存在的其他几个基因也在Sry基因周围的区域复制了新的拷贝。这些表明，在哺乳动物Y染色体的进化中，如褐家鼠的活跃转座因子的作用。
Gene copy number variation plays a large role in the evolution of genomes. In Rattus norvegicus and other rodent species, the Y-chromosome has accumulated multiple copies of Sry loci. These copy number variations have been previously linked with changes in phenotype of animal models such as the spontaneously hypertensive rat (SHR). This study characterizes the Y-chromosome in the Sry region of Rattus norvegicus, while addressing functional variations seen in the Sry protein products. Eleven Sry loci have been identified in the SHR with one (nonHMG Sry) containing a frame shift mutation. The nonHMGSry is found and conserved in the related WKY and SD rat strains. Three new, previously unidentified, Sry loci were identified in this study (Sry3BII, Sry4 and Sry4A) in both SHR and WKY. Repetitive element analysis revealed numerous LINE-L1 elements at regions where conservation is lost among the Sry copies. In addition we have identified a retrotransposed copy of Med14 originating from spliced mRNA, two autosomal genes (Ccdc110 and HMGB1) and a normal mammalian Y-chromosome gene (Zfy) in the Sry region of the rat Y-chromosome. Translation of the sequences of each Sry gene reveals eight proteins with amino acid differences leading to changes in nuclear localization and promoter activation of a Sry-responsive gene. Sry-β (coded by the Sry2 locus) has an increased cytoplasmic fraction due to alterations at amino acid 21. Sry-γ has altered gene regulation of the Sry1 promoter due to changes at amino acid 76. The duplication of Sry on the Rattus norvegicus Y-chromosome has led to proteins with altered functional ability that may have been selected for functions in addition to testis determination. Additionally, several other genes not normally found on the Y-chromosome have duplicated new copies into the region around the Sry genes. These suggest a role of active transposable elements in the evolution of the mammalian Y-chromosome in species such as Rattus norvegicus.
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