Gene structure

基因结构
  • 文章类型: Journal Article
    CCT(CO,COL和TOC1)基因家族已被阐明参与各种植物物种中产物的功能分化,但是他们的具体机制知之甚少。在目前的调查中,我们对从微藻到豆科植物的CCT基因进行了全基因组鉴定和系统发育分析。通过同源性检索鉴定了来自30个物种的CCT基因家族的总共700个非冗余成员。拟南芥的系统发育聚类和结构域保守分析将CCT基因分为三个家族。多重序列比对显示CCT结构域含有重要的氨基酸残基,每个CCT蛋白包含24个保守基序,正如主题分析所证明的那样。全基因组/片段复制,以及串联复制,被认为是植物物种进化轨迹的驱动力。对CCT基因家族增殖的全面研究揭示了进化动力学,其中WGD/片段重复是导致CCT基因扩展的主要机制。同时,基因表达模式的研究表明,CCT基因的表达模式在植物的不同组织和不同发育阶段有所不同,在叶子中高表达,这与CCT在光合作用中对开花的分子调控是一致的。基于模式植物中CCT基因的蛋白质-蛋白质相互作用分析,我们建议CCT基因家族与光信号因子(PHYs和PIFs)和MYB家族转录因子协同调节植物的发育和开花。了解CCT基因家族的分子进化使靶向基因操作能够增强植物性状,包括优化的开花和抗逆性。
    The CCT (CO, COL and TOC1) gene family has been elucidated to be involved in the functional differentiation of the products in various plant species, but their specific mechanisms are poorly understood. In the present investigation, we conducted a genome-wide identification and phylogenetic analysis of CCT genes from microalgae to legumes. A total of 700 non-redundant members of the CCT gene family from 30 species were identified through a homology search. Phylogenetic clustering with Arabidopsis and domain conservation analysis categorized the CCT genes into three families. Multiple sequence alignment showed that the CCT domain contains important amino acid residues, and each CCT protein contains 24 conserved motifs, as demonstrated by the motif analysis. Whole-genome/segment duplication, as well as tandem duplication, are considered to be the driving forces in the evolutionary trajectory of plant species. This comprehensive investigation into the proliferation of the CCT gene family unveils the evolutionary dynamics whereby WGD/segment duplication is the predominant mechanism contributing to the expansion of the CCT genes. Meanwhile, the examination of the gene expression patterns revealed that the expression patterns of CCT genes vary in different tissues and at different developmental stages of plants, with high expression in leaves, which is consistent with the molecular regulation of flowering in photosynthesis by CCT. Based on the protein-protein interaction analysis of CCT genes in model plants, we propose that the CCT gene family synergistically regulates plant development and flowering with light-signaling factors (PHYs and PIFs) and MYB family transcription factors. Understanding the CCT gene family\'s molecular evolution enables targeted gene manipulation for enhanced plant traits, including optimized flowering and stress resistance.
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  • 文章类型: Journal Article
    胞质磺基转移酶(SULTs)是2期药物代谢酶,可催化磺酸盐与内源性和异源性化合物的结合,增加它们的亲水性和从细胞中排泄。迄今为止,已鉴定出13种人类SULTs并将其分为5个家族。SULT4A1mRNA编码两种变体:(1)野生型,编码一个284个氨基酸,~33kDa蛋白,和(2)由外显子6和7之间的126bp插入片段产生的选择性剪接变体,其引入了增强无义介导的衰变的过早终止密码子。SULT4A1根据序列和结构相似性被归类为SULT,包括PAPS域,active-siteHis,和二聚化域;然而,催化口袋盖\'Loop3\'的尺寸没有保留。SULT4A1在大脑中独特表达,并位于细胞质和线粒体中。SULT4A1是高度保守的,具有罕见的内含子多态性,没有外在表现。然而,SULT4A1单倍型与Phelan-McDermid综合征和精神分裂症相关。SULT4A1敲低揭示了SULT4A1在光感受器信号传导中的潜在功能,敲除小鼠显示出神经元发育和行为受阻。小鼠和酵母模型显示,SULT4A1保护线粒体免受内源性和外源性诱导的氧化应激并刺激细胞分裂,促进树突棘的形成和突触传递。迄今为止,没有生理酶活性与SULT4A1相关。
    Cytosolic sulfotransferases (SULTs) are Phase 2 drug-metabolizing enzymes that catalyze the conjugation of sulfonate to endogenous and xenobiotic compounds, increasing their hydrophilicity and excretion from cells. To date, 13 human SULTs have been identified and classified into five families. SULT4A1 mRNA encodes two variants: (1) the wild type, encoding a 284 amino acid, ~33 kDa protein, and (2) an alternative spliced variant resulting from a 126 bp insert between exon 6 and 7, which introduces a premature stop codon that enhances nonsense-mediated decay. SULT4A1 is classified as an SULT based on sequence and structural similarities, including PAPS-domains, active-site His, and the dimerization domain; however, the catalytic pocket lid \'Loop 3\' size is not conserved. SULT4A1 is uniquely expressed in the brain and localized in the cytosol and mitochondria. SULT4A1 is highly conserved, with rare intronic polymorphisms that have no outward manifestations. However, the SULT4A1 haplotype is correlated with Phelan-McDermid syndrome and schizophrenia. SULT4A1 knockdown revealed potential SULT4A1 functions in photoreceptor signaling and knockout mice display hampered neuronal development and behavior. Mouse and yeast models revealed that SULT4A1 protects the mitochondria from endogenously and exogenously induced oxidative stress and stimulates cell division, promoting dendritic spines\' formation and synaptic transmission. To date, no physiological enzymatic activity has been associated with SULT4A1.
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  • 文章类型: Journal Article
    FK506结合蛋白(FKBP),普遍存在于不同的物种中,其特征在于其进化保守的FK506结合域(FKBd)。在植物中,证据表明,这个基因家族在调节生长中起着不可或缺的作用,发展,以及对环境压力的反应。值得注意的是,水稻中FKBP基因的鉴定和功能的研究仍然有限。因此,本研究利用生物信息学工具鉴定了水稻中30个编码FKBP的基因。它提供了对它们染色体位置的详细分析,与拟南芥FKBP家族的进化关系,和基因结构。对这些水稻FKBP基因的启动子元件的进一步分析表明,胁迫响应元件的存在很高。在干旱和热胁迫条件下的定量PCR测定表明,这些不利条件可诱导基因OsFKBP15-2,OsFKBP15-3,OsFKBP16-3,OsFKBP18和OsFKBP42b。这些发现表明水稻FKBP基因家族在胁迫适应中具有重要作用。本研究为深入研究OsFKBP基因在水稻中的功能作用奠定了基础。
    The FK506 Binding Protein (FKBP), ubiquitously present across diverse species, is characterized by its evolutionarily conserved FK506 binding domain (FKBd). In plants, evidence suggests that this gene family plays integral roles in regulating growth, development, and responses to environmental stresses. Notably, research on the identification and functionality of FKBP genes in rice remains limited. Therefore, this study utilized bioinformatic tools to identify 30 FKBP-encoding genes in rice. It provides a detailed analysis of their chromosomal locations, evolutionary relationships with the Arabidopsis thaliana FKBP family, and gene structures. Further analysis of the promoter elements of these rice FKBP genes revealed a high presence of stress-responsive elements. Quantitative PCR assays under drought and heat stress conditions demonstrated that genes OsFKBP15-2, OsFKBP15-3, OsFKBP16-3, OsFKBP18, and OsFKBP42b are inducible by these adverse conditions. These findings suggest a significant role for the rice FKBP gene family in stress adaptation. This research establishes a critical foundation for deeper explorations of the functional roles of the OsFKBP genes in rice.
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  • 文章类型: Journal Article
    Bostaurus以其对粗粒的耐受性而闻名,适应性,高温,湿度,湿度和抗病性。首先,牛被饲养为肉和奶,并确定与肉类生产相关性状相关的基因可以提高其整体生产力。这项研究的目的是确定基因组,分析进化,并探索金牛Pax基因家族的功能,为肉质牛育种提供新的分子靶标。在这项研究中,利用生物信息学技术从5个物种的基因组数据库中鉴定出44个Pax基因,表明牛科动物的亲缘关系相似。五只动物的Pax3和Pax7蛋白序列高度一致。总的来说,水牛的Pax基因对应于家畜。总之,水牛和家牛的Pax家族基因在Pax1/9,Pax2/5/8,Pax3/7和Pax4/6亚家族中的亲和力存在差异。我们认为Pax1/9对水牛和家畜的生长性状有影响。Pax3/7基因在水牛和家畜的进化中是保守的,可能是调节金牛芽孢杆菌生长的关键基因。Pax2/5/8亚族影响外套颜色,繁殖性能,和牛的产奶性能。Pax4/6亚家族对金牛座的乳脂百分比有影响。研究结果为理解进化论提供了理论依据,结构,金牛座Pax家族成员的功能特征以及分子遗传学和产肉金牛座物种的育种。
    Bos taurus is known for its tolerance of coarse grains, adaptability, high temperature, humidity, and disease resistance. Primarily, cattle are raised for their meat and milk, and pinpointing genes associated with traits relevant to meat production can enhance their overall productivity. The aim of this study was to identify the genome, analyze the evolution, and explore the function of the Pax gene family in B. taurus to provide a new molecular target for breeding in meat-quality-trait cattle. In this study, 44 Pax genes were identified from the genome database of five species using bioinformatics technology, indicating that the genetic relationships of bovids were similar. The Pax3 and Pax7 protein sequences of the five animals were highly consistent. In general, the Pax gene of the buffalo corresponds to the domestic cattle. In summary, there are differences in affinity between the Pax family genes of buffalo and domestic cattle in the Pax1/9, Pax2/5/8, Pax3/7, and Pax4/6 subfamilies. We believe that Pax1/9 has an effect on the growth traits of buffalo and domestic cattle. The Pax3/7 gene is conserved in the evolution of buffalo and domestic animals and may be a key gene regulating the growth of B. taurus. The Pax2/5/8 subfamily affects coat color, reproductive performance, and milk production performance in cattle. The Pax4/6 subfamily had an effect on the milk fat percentage of B. taurus. The results provide a theoretical basis for understanding the evolutionary, structural, and functional characteristics of the Pax family members of B. taurus and for molecular genetics and the breeding of meat-production B. taurus species.
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  • 文章类型: Journal Article
    苯并恶嗪(BXs)是玉米中独特的生物活性代谢产物,具有保护和化感特性,可响应多种胁迫。BXs的生产涉及BXs生物合成基因簇(BGC)的精细调控。然而,关于BGC成员的表达模式是否以及如何受到生物和非生物胁迫的影响知之甚少。这里,对玉米BGC进行了系统研究,在7条染色体上鉴定出26个BGC基因成员,其中Bin4.00-4.01/4.03-4.04/7.02是最丰富的区域。所有的BX蛋白被明确地分为三类和七个亚类,在这些蛋白质中进一步鉴定了10个保守基序。这些蛋白质位于叶绿体的亚细胞区室,内质网,或者细胞质,它们的催化活性是专门执行的。三个独立的RNA测序(RNA-Seq)分析显示,大多数BGC基因成员的表达谱明显受到多种处理的影响。包括光谱质量,低温,24-表油菜素内酯诱导,和亚洲玉米虫侵扰。在三个RNA-Seq中通常检测到13个具有高和特异性表达水平的差异表达基因(DEGs),作为核心保守的BGC成员,用于在多种非生物/生物刺激下调节BXs的生物合成。此外,实时定量PCR(qRT-PCR)验证了BGC中6个核心保守基因在4种处理的幼苗叶片中显著差异表达,在黑暗和伤口处理下,导致2,4-二羟基-7-甲氧基-1,4-苯并恶嗪-3-酮(DIMBOA)含量显着增加,而在低温处理下观察到DIMBOA含量明显下降。总之,玉米中BX代谢产物的变化受多种胁迫状态下BGC基因成员的调控。因此,生物/非生物胁迫下与BX积累相关的关键基因的鉴定将为选育具有增强适应能力的玉米品种提供有价值的基因资源。
    Benzoxazinoids (BXs) are unique bioactive metabolites with protective and allelopathic properties in maize in response to diverse stresses. The production of BXs involves the fine regulations of BXs biosynthetic gene cluster (BGC). However, little is known about whether and how the expression pattern of BGC members is impacted by biotic and abiotic stresses. Here, maize BGC was systemically investigated and 26 BGC gene members were identified on seven chromosomes, for which Bin 4.00-4.01/4.03-4.04/7.02 were the most enriched regions. All BX proteins were clearly divided into three classes and seven subclasses, and ten conserved motifs were further identified among these proteins. These proteins were localized in the subcellular compartments of chloroplast, endoplasmic reticulum, or cytoplasmic, where their catalytic activities were specifically executed. Three independent RNA-sequencing (RNA-Seq) analyses revealed that the expression profiles of the majority of BGC gene members were distinctly affected by multiple treatments, including light spectral quality, low-temperature, 24-epibrassinolide induction, and Asian corn borer infestation. Thirteen differentially expressed genes (DEGs) with high and specific expression levels were commonly detected among three RNA-Seq, as core conserved BGC members for regulating BXs biosynthesis under multiple abiotic/biotic stimulates. Moreover, the quantitative real-time PCR (qRT-PCR) verified that six core conserved genes in BGC were significantly differentially expressed in leaves of seedlings upon four treatments, which caused significant increases in 2,4-dihydroxy-7-methoxy-1,4-benzoxazin-3-one (DIMBOA) content under darkness and wound treatments, whereas a clear decrease in DIMBOA content was observed under low-temperature treatment. In conclusion, the changes in BX metabolites in maize were regulated by BGC gene members in multiple stress presences. Therefore, the identification of key genes associated with BX accumulation under biotic/abiotic stresses will provide valuable gene resources for breeding maize varieties with enhanced capability to adapt to environmental stresses.
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  • 文章类型: Journal Article
    Toll样受体(TLR)代表了模式识别受体的一个重要类别,已对其在抵抗病原体入侵中的关键作用进行了广泛研究。尽管如此,在C.altivelis中,明显缺乏与TLR家族基因相关的免疫反应的全面鉴定和探索。本研究成功鉴定并命名了14个基因:Catlr1-1,Catlr1-2,Catlr2-1,Catlr2-2,Catlr3,Catlr5,Catlr7,Catlr8,Catlr9,Catlr13-1,Catlr13-2,Catlr18,Catlr21和Catlr22。进行了一系列生物信息学分析,包括蛋白质特性的分析,检查基因结构,进化评估,和蛋白质三级结构的预测。分析了Catlr基因在五种免疫组织中的表达模式:肝脏,脾,脾肾,吉尔,和肠,在健康和细菌刺激的鱼类中。结果表明,不同组织和不同基因在哈氏弧菌感染后表现出不同的表达模式,表明所有Catlr成员参与各种组织感染后的免疫反应。此外,免疫组织的组织学评估揭示了不同程度的损伤。总之,这项对TLR基因家族的研究提供了新的信息,有助于更深入地理解C.altivelis的免疫应答机制。
    Toll-like receptors (TLRs) represent a prominent category of pattern recognition receptors that have been extensively investigated for their pivotal role in combating pathogen incursions. Despite this, there has been a notable absence of comprehensive identification and exploration of the immune response associated with the TLR family genes in C. altivelis. This study successfully identified and named fourteen genes as Catlr1-1, Catlr1-2, Catlr2-1, Catlr2-2, Catlr3, Catlr5, Catlr7, Catlr8, Catlr9, Catlr13-1, Catlr13-2, Catlr18, Catlr21, and Catlr22. A series of bioinformatic analysis were performed, encompassing analysis of protein properties, examination of gene structures, evolutionary assessments, and prediction of protein tertiary structures. The expression patterns of Catlr genes were analyzed in five immune tissues: liver, spleen, kidney, gill, and intestine, in both healthy and bacterial stimulated-fish. The results showed that different tissue and different genes showed differed expression patterns after V. harveyi infection, indicating the involvement of all Catlr members in mounting immune responses following infection in various tissues. Additionally, histological evaluations of immune tissues unveiled varying levels of damage. In conclusion, this investigation into the TLR gene family offers novel information that contribute to a more profound comprehension of the immune response mechanisms in C. altivelis.
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  • 文章类型: Journal Article
    尽管内含子意味着真核细胞的能量和时间负担,它们在蛋白质生产的多样化和调节中起着不可替代的作用。作为真核生物基因组的共同特征,据报道,在蛋白质编码基因中,最长的内含子通常是第一个内含子之一。我们工作的目标是发现与不满足这一共同特征的基因相比,满足这一共同特征的基因的生物学功能可能存在差异。从六种脊椎动物的基因组中提取了基因中所有内含子长度的数据(人类,鼠标,考拉,鸡肉,斑马鱼和河豚)和其他两种模式生物(线虫和拟南芥)。我们表明,超过40%的蛋白质编码基因的最长内含子的相对位置位于所有内含子的第二或第三三分位。发现根据最长内含子的相对位置划分的基因在不同的KEGG途径中显着增加。在第一三元组中具有最长内含子的基因在一系列氨基酸和脂质代谢途径中占主导地位,各种信令,细胞连接或ABC转运蛋白。在第二或第三三元组中具有最长内含子的基因在与剪接体和核糖体的形成和功能相关的途径中显示出增加的代表性。在以这种方式定义的两组基因中,我们进一步证明了最长内含子的长度和它们的绝对位置分布的差异。我们还指出了其他特点,即最长内含子的长度与基因中所有其他内含子的长度之和之间的正相关,并且保留了直系同源基因之间最长内含子的完全相同的绝对和相对位置。
    Despite the fact that introns mean an energy and time burden for eukaryotic cells, they play an irreplaceable role in the diversification and regulation of protein production. As a common feature of eukaryotic genomes, it has been reported that in protein-coding genes, the longest intron is usually one of the first introns. The goal of our work was to find a possible difference in the biological function of genes that fulfill this common feature compared to genes that do not. Data on the lengths of all introns in genes were extracted from the genomes of six vertebrates (human, mouse, koala, chicken, zebrafish and fugu) and two other model organisms (nematode worm and arabidopsis). We showed that more than 40% of protein-coding genes have the relative position of the longest intron located in the second or third tertile of all introns. Genes divided according to the relative position of the longest intron were found to be significantly increased in different KEGG pathways. Genes with the longest intron in the first tertile predominate in a range of pathways for amino acid and lipid metabolism, various signaling, cell junctions or ABC transporters. Genes with the longest intron in the second or third tertile show increased representation in pathways associated with the formation and function of the spliceosome and ribosomes. In the two groups of genes defined in this way, we further demonstrated the difference in the length of the longest introns and the distribution of their absolute positions. We also pointed out other characteristics, namely the positive correlation between the length of the longest intron and the sum of the lengths of all other introns in the gene and the preservation of the exact same absolute and relative position of the longest intron between orthologous genes.
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  • 文章类型: Journal Article
    Actinopterygian,特别是Teleostean过氧化物酶体增殖物激活受体(PPARs)在其结构中表现出令人印象深刻的变异性和复杂性,在基因和蛋白质水平。这些结构差异也可能反映了它们与哺乳动物同源物的功能差异,甚至在鱼类之间。这次审查,利用几种鱼类全基因组测序产生的数据,突出了受体一级结构的差异,同时讨论了有关鱼类PPARs功能及其通过天然和合成化合物活化的文献结果。
    The Actinopterygian and specifically the Teleostean peroxisome proliferator-activated receptors (PPARs) present an impressive variability and complexity in their structures, both at the gene and protein levels. These structural differences may also reflect functional divergence from their mammalian homologs, or even between fish species. This review, taking advantage of the data generated from the whole-genome sequencing of several fish species, highlights the differences in the primary structure of the receptors, while discussing results from the literature pertaining to the functions of fish PPARs and their activation by natural and synthetic compounds.
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  • 文章类型: Journal Article
    最近的证据表明,人类基因启动子显示出超出典型的单基因局部转录调节的基因表达调节机制。在哺乳动物基因组中,具有相关双向启动子的基因丰富;双向启动子结构可作为基因对表达的调节中心。然而,有人认为,它对转录调节的贡献可能超过局部转录起始调节。尽管它们丰富,双向启动子结构的功能后果在很大程度上仍未被探索。这项工作使用染色体构象捕获方法研究了长链非编码RNA基因启动子的远程基因表达调节作用。我们发现这种特定的双向启动子通过建立启动子-启动子相互作用以靶特异性方式促进远端基因表达调控。特别是,我们验证了该调控元件与远端基因BBX启动子的启动子-启动子相互作用有助于调节该基因的转录速率;从其基因组环境中去除双向启动子会导致BBX启动子-增强子相互作用的重排并增加基因表达.此外,长程调控功能并不直接依赖于其相关的非编码基因对表达水平.
    Recent evidence suggests that human gene promoters display gene expression regulatory mechanisms beyond the typical single gene local transcription modulation. In mammalian genomes, genes with an associated bidirectional promoter are abundant; bidirectional promoter architecture serves as a regulatory hub for a gene pair expression. However, it has been suggested that its contribution to transcriptional regulation might exceed local transcription initiation modulation. Despite their abundance, the functional consequences of bidirectional promoter architecture remain largely unexplored. This work studies the long-range gene expression regulatory role of a long non-coding RNA gene promoter using chromosome conformation capture methods. We found that this particular bidirectional promoter contributes to distal gene expression regulation in a target-specific manner by establishing promoter-promoter interactions. In particular, we validated that the promoter-promoter interactions of this regulatory element with the promoter of distal gene BBX contribute to modulating the transcription rate of this gene; removing the bidirectional promoter from its genomic context leads to a rearrangement of BBX promoter-enhancer interactions and to increased gene expression. Moreover, long-range regulatory functionality is not directly dependent on its associated non-coding gene pair expression levels.
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  • 文章类型: Journal Article
    背景:在真核生物中,肌醇多磷酸盐(InsPs)代表了第二信使的大家庭,并在各种细胞过程中起着至关重要的作用。InsP是通过一系列由各种InsP激酶以顺序方式催化的泊霍化反应合成的。肌醇1,4,5-三磷酸3-激酶(IP33-激酶/IP3K),InsP激酶的一个成员,通过将动物细胞中的肌醇1,4,5-三磷酸肌醇(IP3)特异性磷酸化为肌醇1,3,4,5-四磷酸肌醇(IP4),在InsPs代谢中起着重要的调节作用。IP3K在真菌中广泛存在,植物和动物。然而,它的进化历史和模式还没有被系统地研究。
    结果:在57个植物基因组和13个动物基因组中,共鉴定出104个和31个IP3K直系同源物。分别。系统发育分析表明,IP3K起源于真菌分化之前的共同祖先,植物和动物。在大多数植物和动物中,IP3K保持低拷贝数,表明植物和动物进化过程中的功能保护。在十字花科和脊椎动物中,IP3K经历了一次和两次重复事件,分别,导致多个基因拷贝。全基因组复制(WGD)是IP3K复制的主要机制,和IP3K重复经历了功能分歧。最后,基于系统发育理论,提出了IP3K蛋白的假设进化模型。
    结论:我们的研究揭示了IP3K蛋白的进化史,并指导动物的未来功能,植物,和真菌IP3K蛋白。
    BACKGROUND: In Eukaryotes, inositol polyphosphates (InsPs) represent a large family of secondary messengers and play crucial roes in various cellular processes. InsPs are synthesized through a series of pohophorylation reactions catalyzed by various InsP kinases in a sequential manner. Inositol 1,4,5-trisphosphate 3-kinase (IP3 3-kinase/IP3K), one member of InsP kinase, plays important regulation roles in InsPs metabolism by specifically phosphorylating inositol 1,4,5-trisphosphate (IP3) to inositol 1,3,4,5-tetrakisphosphate (IP4) in animal cells. IP3Ks were widespread in fungi, plants and animals. However, its evolutionary history and patterns have not been examined systematically.
    RESULTS: A total of 104 and 31 IP3K orthologues were identified across 57 plant genomes and 13 animal genomes, respectively. Phylogenetic analyses indicate that IP3K originated in the common ancestor before the divergence of fungi, plants and animals. In most plants and animals, IP3K maintained low-copy numbers suggesting functional conservation during plant and animal evolution. In Brassicaceae and vertebrate, IP3K underwent one and two duplication events, respectively, resulting in multiple gene copies. Whole-genome duplication (WGD) was the main mechanism for IP3K duplications, and the IP3K duplicates have experienced functional divergence. Finally, a hypothetical evolutionary model for the IP3K proteins is proposed based on phylogenetic theory.
    CONCLUSIONS: Our study reveals the evolutionary history of IP3K proteins and guides the future functions of animal, plant, and fungal IP3K proteins.
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