Grosskurth Shaun E, Bhattacharya Debashish, Wang Qinchuan, Lin Jim Jung-Ching
Department of Biology, University of Iowa, Iowa City, Iowa, United States of America.
PLoS One. 2008 Aug 6;3(8):e2857. doi: 10.1371/journal.pone.0002857.
The mouse Xin repeat-containing proteins (mXinalpha and mXinbeta) localize to the intercalated disc in the heart. mXinalpha is able to bundle actin filaments and to interact with beta-catenin, suggesting a role in linking the actin cytoskeleton to N-cadherin/beta-catenin adhesion. mXinalpha-null mouse hearts display progressively ultrastructural alterations at the intercalated discs, and develop cardiac hypertrophy and cardiomyopathy with conduction defects. The up-regulation of mXinbeta in mXinalpha-deficient mice suggests a partial compensation for the loss of mXinalpha. To elucidate the evolutionary relationship between these proteins and to identify the origin of Xin, a phylogenetic analysis was done with 40 vertebrate Xins. Our results show that the ancestral Xin originated prior to the emergence of lamprey and subsequently underwent gene duplication early in the vertebrate lineage. A subsequent teleost-specific genome duplication resulted in most teleosts encoding at least three genes. All Xins contain a highly conserved beta-catenin-binding domain within the Xin repeat region. Similar to mouse Xins, chicken, frog and zebrafish Xins also co-localized with beta-catenin to structures that appear to be the intercalated disc. A putative DNA-binding domain in the N-terminus of all Xins is strongly conserved, whereas the previously characterized Mena/VASP-binding domain is a derived trait found only in Xinalphas from placental mammals. In the C-terminus, Xinalphas and Xinbetas are more divergent relative to each other but each isoform from mammals shows a high degree of within-isoform sequence identity. This suggests different but conserved functions for mammalian Xinalpha and Xinbeta. Interestingly, the origin of Xin ca. 550 million years ago coincides with the genesis of heart chambers with complete endothelial and myocardial layers. We postulate that the emergence of the Xin paralogs and their functional differentiation may have played a key role in the evolutionary development of the heart.
小鼠含Xin重复序列蛋白(mXinalpha和mXinbeta)定位于心脏的闰盘。mXinalpha能够捆绑肌动蛋白丝并与β-连环蛋白相互作用,提示其在将肌动蛋白细胞骨架与N-钙黏蛋白/β-连环蛋白黏附连接中发挥作用。mXinalpha基因敲除小鼠的心脏在闰盘处逐渐出现超微结构改变,并发展为心脏肥大和伴有传导缺陷的心肌病。mXinalpha缺陷小鼠中mXinbeta的上调提示对mXinalpha缺失的部分补偿。为阐明这些蛋白之间的进化关系并确定Xin的起源,对40种脊椎动物的Xin进行了系统发育分析。我们的结果表明,Xin的祖先起源于七鳃鳗出现之前,随后在脊椎动物谱系早期经历了基因复制。随后的硬骨鱼特异性基因组复制导致大多数硬骨鱼编码至少三个基因。所有Xin在Xin重复区域内都含有一个高度保守的β-连环蛋白结合结构域。与小鼠Xin相似,鸡、蛙和斑马鱼的Xin也与β-连环蛋白共定位于似乎是闰盘的结构。所有Xin的N端一个假定的DNA结合结构域高度保守,而先前鉴定的Mena/VASP结合结构域是仅在胎盘哺乳动物的Xinalpha中发现的衍生特征。在C端,Xinalpha和Xinbeta彼此之间差异更大,但来自哺乳动物的每种异构体在异构体内部显示出高度的序列同一性。这表明哺乳动物Xinalpha和Xinbeta具有不同但保守的功能。有趣的是,Xin约在5.5亿年前的起源与具有完整内皮和心肌层的心腔的起源相吻合。我们推测Xin旁系同源物的出现及其功能分化可能在心脏的进化发展中起关键作用。