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DNA methylation, epigenetics, and evolution in vertebrates: facts and challenges. 脊椎动物的DNA甲基化、表观遗传学和进化:事实和挑战。
Pub Date : 2014-01-01 Epub Date: 2014-01-16 DOI: 10.1155/2014/475981
Annalisa Varriale

DNA methylation is a key epigenetic modification in the vertebrate genomes known to be involved in biological processes such as regulation of gene expression, DNA structure and control of transposable elements. Despite increasing knowledge about DNA methylation, we still lack a complete understanding of its specific functions and correlation with environment and gene expression in diverse organisms. To understand how global DNA methylation levels changed under environmental influence during vertebrate evolution, we analyzed its distribution pattern along the whole genome in mammals, reptiles and fishes showing that it is correlated with temperature, independently on phylogenetic inheritance. Other studies in mammals and plants have evidenced that environmental stimuli can promote epigenetic changes that, in turn, might generate localized changes in DNA sequence resulting in phenotypic effects. All these observations suggest that environment can affect the epigenome of vertebrates by generating hugely different methylation patterns that could, possibly, reflect in phenotypic differences. We are at the first steps towards the understanding of mechanisms that underlie the role of environment in molding the entire genome over evolutionary times. The next challenge will be to map similarities and differences of DNA methylation in vertebrates and to associate them with environmental adaptation and evolution.

DNA甲基化是脊椎动物基因组中一种重要的表观遗传修饰,参与基因表达调控、DNA结构调控和转座因子调控等生物学过程。尽管对DNA甲基化的认识不断增加,但我们对其在不同生物体内的具体功能及其与环境和基因表达的关系仍然缺乏完整的了解。为了了解脊椎动物进化过程中全球DNA甲基化水平如何在环境影响下发生变化,我们分析了其在哺乳动物、爬行动物和鱼类全基因组中的分布模式,结果表明它与温度相关,而不依赖于系统发育遗传。其他对哺乳动物和植物的研究已经证明,环境刺激可以促进表观遗传变化,进而可能产生DNA序列的局部变化,从而产生表型效应。所有这些观察结果表明,环境可以通过产生巨大不同的甲基化模式来影响脊椎动物的表观基因组,这可能反映在表型差异上。在进化过程中,我们正处于了解环境在塑造整个基因组中所起作用的机制的第一步。下一个挑战将是绘制脊椎动物DNA甲基化的异同,并将它们与环境适应和进化联系起来。
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引用次数: 93
A syntenic region conserved from fish to Mammalian x chromosome. 从鱼类到哺乳动物的x染色体保守的同染色体区域。
Pub Date : 2014-01-01 Epub Date: 2014-11-18 DOI: 10.1155/2014/873935
Guijun Guan, Meisheng Yi, Tohru Kobayashi, Yunhan Hong, Yoshitaka Nagahama

Sex chromosomes bearing the sex-determining gene initiate development along the male or female pathway, no matter which sex is determined by XY male or ZW female heterogamety. Sex chromosomes originate from ancient autosomes but evolved rapidly after the acquisition of sex-determining factors which are highly divergent between species. In the heterogametic male system (XY system), the X chromosome is relatively evolutionary silent and maintains most of its ancestral genes, in contrast to its Y counterpart that has evolved rapidly and degenerated. Sex in a teleost fish, the Nile tilapia (Oreochromis niloticus), is determined genetically via an XY system, in which an unpaired region is present in the largest chromosome pair. We defined the differences in DNA contents present in this chromosome with a two-color comparative genomic hybridization (CGH) and the random amplified polymorphic DNA (RAPD) approach in XY males. We further identified a syntenic segment within this region that is well conserved in several teleosts. Through comparative genome analysis, this syntenic segment was also shown to be present in mammalian X chromosomes, suggesting a common ancestral origin of vertebrate sex chromosomes.

携带性别决定基因的性染色体沿着雄性或雌性途径启动发育,无论哪种性别是由XY雄性或ZW雌性异配子决定的。性染色体起源于古老的常染色体,但在获得物种间高度分化的性别决定因子后迅速进化。在异配子雄性系统(XY系统)中,X染色体相对来说是进化沉默的,它保留了大部分祖先的基因,而Y染色体则进化迅速,退化。尼罗罗非鱼(Oreochromis niloticus)是一种硬骨鱼,它的性别是通过XY系统遗传决定的,在这个系统中,最大的一对染色体上存在一个未配对的区域。我们用双色比较基因组杂交(CGH)和随机扩增多态性DNA (RAPD)方法确定了XY雄性染色体中DNA含量的差异。我们进一步在这一区域内确定了一个同工片段,该片段在几种硬骨鱼中保存得很好。通过比较基因组分析,该同源片段也存在于哺乳动物X染色体中,表明脊椎动物性染色体具有共同的祖先起源。
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引用次数: 1
Evolution of the B-Block Binding Subunit of TFIIIC That Binds to the Internal Promoter for RNA Polymerase III. 结合RNA聚合酶III内部启动子的TFIIIC B-Block结合亚基的进化
Pub Date : 2014-01-01 Epub Date: 2014-02-12 DOI: 10.1155/2014/609865
Sachiko Matsutani

Eukaryotic RNA polymerase III transcribes tRNA genes, and this requires the transcription factor TFIIIC. Promoters are within genes, with which the B-block binding subunit of TFIIIC associates to initiate transcription. The binding subunits are more than 1000 amino acids in length in various eukaryotic species. There are four regions with conserved sequence similarities in the subunits. The helix-turn-helix motif is included in one of these regions and has been characterized as the B-block_TFIIIC family in the Pfam database. In the NCBI and EMBL translated protein databases, there are archaeal proteins (approximately 100 amino acids in length) referred to as B-block binding subunits. Most of them contain a B-block_TFIIIC motif. DELTA-BLAST searches using these archaeal proteins as queries showed significant multiple blast hits for many eukaryotic B-block binding subunits on the same proteins. This result suggests that eukaryotic B-block binding subunits were constituted by repeating a small unit of B-block_TFIIIC over a long evolutionary period. Bacterial proteins have also been annotated as B-block binding subunits in the databases. Here, some of them were confirmed to have significant similarities to B-block_TFIIIC. These results may imply that part of the RNAP III transcription machinery existed in the common ancestry of prokaryotes and eukaryotes.

真核生物RNA聚合酶III转录tRNA基因,这需要转录因子TFIIIC。启动子位于基因内,与TFIIIC的B-block结合亚基结合以启动转录。在各种真核生物中,结合亚基的长度超过1000个氨基酸。亚基中有4个区域具有保守的序列相似性。螺旋-转-螺旋基序包含在其中一个区域中,并在Pfam数据库中被表征为B-block_TFIIIC家族。在NCBI和EMBL翻译蛋白数据库中,存在被称为B-block结合亚基的古细菌蛋白(长度约为100个氨基酸)。它们大多包含一个B-block_TFIIIC基序。使用这些古细菌蛋白作为查询的DELTA-BLAST搜索显示,在相同的蛋白质上,许多真核b块结合亚基具有显著的多重blast命中。这一结果表明,真核B-block结合亚基是在长时间的进化过程中重复B-block_TFIIIC的一个小单元而形成的。细菌蛋白在数据库中也被标注为B-block结合亚基。在这里,我们证实其中一些与B-block_TFIIIC有显著的相似之处。这些结果可能暗示部分RNAP III转录机制存在于原核生物和真核生物的共同祖先中。
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引用次数: 4
Diversification in monkeyflowers: an investigation of the effects of elevation and floral color in the genus mimulus. 猕猴桃花的多样性:海拔和花色对猕猴桃属植物的影响。
Pub Date : 2014-01-01 Epub Date: 2014-01-05 DOI: 10.1155/2014/382453
Ezgi Ogutcen, Brooklyn Hamper, Jana C Vamosi

The vast diversity of floral colours in many flowering plant families, paired with the observation of preferences among pollinators, suggests that floral colour may be involved in the process of speciation in flowering plants. While transitions in floral colour have been examined in numerous genera, we have very little information on the consequences of floral colour transitions to the evolutionary success of a clade. Overlaid upon these patterns is the possibility that certain floral colours are more prevalent in certain environments, with the causes of differential diversification being more directly determined by geographical distribution. Here we examine transition rates to anthocyanin + carotenoid rich (red/orange/fuschia) flowers and examine whether red/orange flowers are associated with differences in speciation and/or extinction rates in Mimulus. Because it has been suggested that reddish flowers are more prevalent at high elevation, we also examine the macroevolutionary evidence for this association and determine if there is evidence for differential diversification at high elevations. We find that, while red/orange clades have equivalent speciation rates, the trait state of reddish flowers reverts more rapidly to the nonreddish trait state. Moreover, there is evidence for high speciation rates at high elevation and no evidence for transition rates in floral colour to differ depending on elevation.

在许多开花植物科中,花颜色的巨大多样性,加上对传粉者偏好的观察,表明花颜色可能参与了开花植物物种形成的过程。虽然花颜色的转变已经在许多属中进行了研究,但我们对花颜色转变对进化成功的影响知之甚少。在这些模式之上,还有一种可能性,即某些花卉颜色在某些环境中更为普遍,而差异多样化的原因更直接取决于地理分布。在这里,我们研究了向花青素+类胡萝卜素丰富(红色/橙色/紫红色)花的过渡速率,并研究了红色/橙色花是否与Mimulus物种形成和/或灭绝速率的差异有关。因为有人认为红色的花在高海拔地区更普遍,我们也研究了这种关联的宏观进化证据,并确定是否有证据表明在高海拔地区存在差异多样化。我们发现,虽然红色/橙色枝具有相同的物种形成率,但红色花的性状状态更快地恢复到非红色性状状态。此外,有证据表明高海拔地区物种形成率高,而没有证据表明花颜色的过渡率因海拔而异。
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引用次数: 4
Genetics of Sub-Saharan African Human Population: Implications for HIV/AIDS, Tuberculosis, and Malaria. 撒哈拉以南非洲人口的遗传学:对艾滋病毒/艾滋病、结核病和疟疾的影响》。
Pub Date : 2014-01-01 Epub Date: 2014-08-18 DOI: 10.1155/2014/108291
Gerald Mboowa

Sub-Saharan Africa has continued leading in prevalence and incidence of major infectious disease killers such as HIV/AIDS, tuberculosis, and malaria. Epidemiological triad of infectious diseases includes susceptible host, pathogen, and environment. It is imperative that all aspects of vertices of the infectious disease triad are analysed to better understand why this is so. Studies done to address this intriguing reality though have mainly addressed pathogen and environmental components of the triad. Africa is the most genetically diverse region of the world as well as being the origin of modern humans. Malaria is relatively an ancient infection in this region as compared to TB and HIV/AIDS; from the evolutionary perspective, we would draw lessons that this ancestrally unique population now under three important infectious diseases both ancient and exotic will be skewed into increased genetic diversity; moreover, other evolutionary forces are also still at play. Host genetic diversity resulting from many years of malaria infection has been well documented in this population; we are yet to account for genetic diversity from the trio of these infections. Effect of host genetics on treatment outcome has been documented. Host genetics of sub-Saharan African population and its implication to infectious diseases are an important aspect that this review seeks to address.

撒哈拉以南非洲地区在艾滋病毒/艾滋病、结核病和疟疾等主要传染病杀手的流行率和发病率方面一直处于领先地位。传染病的流行病学三要素包括易感宿主、病原体和环境。当务之急是对传染病三要素的各个方面进行分析,以便更好地理解为什么会出现这种情况。不过,针对这一引人关注的现实问题所做的研究主要涉及三要素中的病原体和环境因素。非洲是世界上基因最多样化的地区,也是现代人类的起源地。与肺结核和艾滋病毒/艾滋病相比,疟疾在这一地区是一种相对古老的传染病;从进化论的角度来看,我们可以得出这样的结论,即这一祖先独特的人群目前正遭受着三种既古老又外来的重要传染病的侵袭,其遗传多样性将会增加;此外,其他进化力量也仍在发挥作用。在这一人群中,多年疟疾感染所导致的宿主遗传多样性已经得到了很好的记录;我们还没有考虑到这三种感染所导致的遗传多样性。宿主遗传学对治疗结果的影响已有文献记载。撒哈拉以南非洲人口的宿主遗传学及其对传染病的影响是本综述试图探讨的一个重要方面。
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引用次数: 0
Mycobacterium tuberculosis H37Rv: In Silico Drug Targets Identification by Metabolic Pathways Analysis. 结核分枝杆菌H37Rv:基于代谢途径分析的药物靶点识别
Pub Date : 2014-01-01 Epub Date: 2014-02-25 DOI: 10.1155/2014/284170
Asad Amir, Khyati Rana, Arvind Arya, Neelesh Kapoor, Hirdesh Kumar, Mohd Asif Siddiqui

Mycobacterium tuberculosis (Mtb) is a pathogenic bacteria species in the genus Mycobacterium and the causative agent of most cases of tuberculosis. Tuberculosis (TB) is the leading cause of death in the world from a bacterial infectious disease. This antibiotic resistance strain lead to development of the new antibiotics or drug molecules which can kill or suppress the growth of Mycobacterium tuberculosis. We have performed an in silico comparative analysis of metabolic pathways of the host Homo sapiens and the pathogen Mycobacterium tuberculosis (H37Rv). Novel efforts in developing drugs that target the intracellular metabolism of M. tuberculosis often focus on metabolic pathways that are specific to M. tuberculosis. We have identified five unique pathways for Mycobacterium tuberculosis having a number of 60 enzymes, which are nonhomologous to Homo sapiens protein sequences, and among them there were 55 enzymes, which are nonhomologous to Homo sapiens protein sequences. These enzymes were also found to be essential for survival of the Mycobacterium tuberculosis according to the DEG database. Further, the functional analysis using Uniprot showed involvement of all the unique enzymes in the different cellular components.

结核分枝杆菌(Mtb)是分枝杆菌属的一种致病菌,是大多数结核病病例的病原体。结核病(TB)是世界上因细菌性传染病导致死亡的主要原因。这种抗生素耐药菌株导致新的抗生素或药物分子的发展,可以杀死或抑制结核分枝杆菌的生长。我们对宿主智人(Homo sapiens)和病原体结核分枝杆菌(Mycobacterium tuberculosis, H37Rv)的代谢途径进行了计算机比较分析。开发针对结核分枝杆菌细胞内代谢的药物的新努力通常集中在结核分枝杆菌特有的代谢途径上。我们确定了结核分枝杆菌的5条独特通路,其中有60种酶与智人蛋白序列非同源,其中55种酶与智人蛋白序列非同源。根据DEG数据库,这些酶也被发现对结核分枝杆菌的存活至关重要。此外,使用Uniprot进行功能分析显示,不同细胞成分中所有独特的酶都参与其中。
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引用次数: 29
Individual Genetic Contributions to Genital Shape Variation between Drosophila simulans and D. mauritiana. 模拟果蝇和毛里求斯果蝇生殖器形状变异的个体遗传贡献。
Pub Date : 2014-01-01 Epub Date: 2014-09-08 DOI: 10.1155/2014/808247
Hélène LeVasseur-Viens, Amanda J Moehring

External genitalia are one of the most rapidly evolving morphological features in insects. In the Drosophila melanogaster species subgroup, males possess a nonfertilizing external genital structure, called the posterior lobe, which is highly divergent among even closely related species. A previous study on this subgroup mapped two genomic regions that affect lobe size and four that affect lobe shape differences between D. mauritiana and D. sechellia; none of the regions affected both size and shape. Here, we investigate whether three of these significant regions also affect lobe size and shape differences between the overlapping species pair D. mauritiana and D. simulans. We found that the same three regions of D. mauritiana, previously shown to affect lobe morphology in a D. sechellia genetic background, also affect lobe morphology in a D. simulans genetic background, with one of the regions affecting both size and shape. Two of the regions also affected morphology when introgressed in the reciprocal direction. The overlap of regions affecting genital morphology within related species pairs indicates either that there is a common underlying genetic basis for variation in genital morphology within this species group or that there are multiple adjacent loci with the potential to influence genital morphology.

外生殖器是昆虫进化最快的形态特征之一。在黑腹果蝇亚群中,雄性拥有一个不受精的外部生殖器结构,称为后叶,即使在密切相关的物种中也高度分化。先前对这一亚群的研究绘制了两个影响毛利亚和舍利亚叶片大小的基因组区域和四个影响毛利亚和舍利亚叶片形状差异的基因组区域;没有一个区域影响大小和形状。在这里,我们研究了这些重要区域中的三个是否也影响了重叠物种对D.毛里求斯和D.模拟之间的叶大小和形状差异。我们发现,同样的三个区域,在以前的研究中被证明会影响d.s hellia遗传背景下的叶片形态,也会影响d.s simulans遗传背景下的叶片形态,其中一个区域会影响叶片的大小和形状。其中两个区域在相互渗入时也会影响形态。在相关物种对中,影响生殖器形态的区域重叠表明,在该物种群中,生殖器形态变异存在共同的潜在遗传基础,或者存在多个相邻的基因座,可能影响生殖器形态。
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引用次数: 8
Is the frequency content of the calls in north american treefrogs limited by their larynges? 北美树蛙叫声的频率是否受到喉部的限制?
Pub Date : 2014-01-01 Epub Date: 2014-09-23 DOI: 10.1155/2014/198069
Marcos Gridi-Papp

A high diversity of mating calls is found among frogs. The calls of most species, however, are simple, in comparison to those of mammals and birds. In order to determine if the mechanics of the larynx could explain the simplicity of treefrog calls, the larynges of euthanized males were activated with airflow. Laryngeal airflow, sound frequency, and sound intensity showed a positive direct relationship with the driving air pressure. While the natural calls of the studied species exhibit minimal frequency modulation, their larynges produced about an octave of frequency modulation in response to varying pulmonary pressure. Natural advertisement calls are produced near the higher extreme of frequency obtained in the laboratory and at a slightly higher intensity (6 dB). Natural calls also exhibit fewer harmonics than artificial ones, because the larynges were activated with the mouth of the animal open. The results revealed that treefrog larynges allow them to produce calls spanning a much greater range of frequencies than observed in nature; therefore, the simplicity of the calls is not due to a limited frequency range of laryngeal output. Low frequencies are produced at low intensities, however, and this could explain why treefrogs concentrate their calling at the high frequencies.

在青蛙中发现了高度多样化的求偶叫声。然而,与哺乳动物和鸟类相比,大多数物种的叫声都很简单。为了确定喉部的机制是否可以解释树蛙叫声的简单性,对被安乐死的雄性树蛙的喉部进行了气流激活。喉部气流、声频、声强与驱动气压呈直接正相关。虽然研究物种的自然叫声表现出最小的频率调制,但它们的喉部产生了大约一个八度的频率调制,以响应不同的肺压力。自然广告呼叫是在实验室获得的频率较高的极端附近产生的,强度略高(6分贝)。自然的叫声也比人工的叫声表现出更少的谐波,因为动物的喉咙是在嘴巴张开的时候被激活的。结果显示,树蛙的喉部使它们能够发出比在自然界中观察到的频率范围大得多的叫声;因此,呼叫的简单性不是由于喉输出的频率范围有限。然而,低频率是在低强度下产生的,这可以解释为什么树蛙集中在高频率上发出叫声。
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引用次数: 11
A mechanistic explanation linking adaptive mutation, niche change, and fitness advantage for the wrinkly spreader. 一种机制解释,将适应性突变、生态位变化和起皱传播者的适应性优势联系起来。
Pub Date : 2014-01-01 Epub Date: 2014-01-16 DOI: 10.1155/2014/675432
Andrew J Spiers

Experimental evolution studies have investigated adaptive radiation in static liquid microcosms using the environmental bacterium Pseudomonas fluorescens SBW25. In evolving populations a novel adaptive mutant known as the Wrinkly Spreader arises within days having significant fitness advantage over the ancestral strain. A molecular investigation of the Wrinkly Spreader has provided a mechanistic explanation linking mutation with fitness improvement through the production of a cellulose-based biofilm at the air-liquid interface. Colonisation of this niche provides greater access to oxygen, allowing faster growth than that possible for non-biofilm-forming competitors located in the lower anoxic region of the microcosm. Cellulose is probably normally used for attachment to plant and soil aggregate surfaces and to provide protection in dehydrating conditions. However, the evolutionary innovation of the Wrinkly Spreader in static microcosms is the use of cellulose as the matrix of a robust biofilm, and is achieved through mutations that deregulate multiple diguanylate cyclases leading to the over-production of cyclic-di-GMP and the stimulation of cellulose expression. The mechanistic explanation of the Wrinkly Spreader success is an exemplar of the modern evolutionary synthesis, linking molecular biology with evolutionary ecology, and provides an insight into the phenomenal ability of bacteria to adapt to novel environments.

实验进化研究利用环境细菌荧光假单胞菌SBW25研究了静态液体微生物的适应性辐射。在不断进化的种群中,一种新的适应性突变体,即皱纹传播者,在几天内就出现了,它比祖先的菌株具有显著的适应性优势。一项对皱纹扩散器的分子研究提供了一种机制解释,通过在气液界面产生纤维素基生物膜,将突变与适应性改善联系起来。这个生态位的定植提供了更多的氧气,使其生长速度比位于微观世界较低缺氧区域的非生物膜形成竞争对手更快。纤维素可能通常用于附着在植物和土壤团聚体表面,并在脱水条件下提供保护。然而,在静态微观环境中,起皱菌的进化创新是使用纤维素作为坚固的生物膜的基质,这是通过突变解除对多个二胍酸环化酶的调节,导致过量生产环二gmp和刺激纤维素表达来实现的。皱纹传播者成功的机制解释是现代进化综合的一个范例,将分子生物学与进化生态学联系起来,并提供了对细菌适应新环境的非凡能力的见解。
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引用次数: 31
Infectious disease, endangerment, and extinction. 传染病、濒危和灭绝。
Pub Date : 2013-01-01 Epub Date: 2013-01-16 DOI: 10.1155/2013/571939
Ross D E Macphee, Alex D Greenwood

Infectious disease, especially virulent infectious disease, is commonly regarded as a cause of fluctuation or decline in biological populations. However, it is not generally considered as a primary factor in causing the actual endangerment or extinction of species. We review here the known historical examples in which disease has, or has been assumed to have had, a major deleterious impact on animal species, including extinction, and highlight some recent cases in which disease is the chief suspect in causing the outright endangerment of particular species. We conclude that the role of disease in historical extinctions at the population or species level may have been underestimated. Recent methodological breakthroughs may lead to a better understanding of the past and present roles of infectious disease in influencing population fitness and other parameters.

传染病,特别是剧毒传染病,通常被认为是生物种群波动或下降的一个原因。然而,它通常不被认为是造成物种实际濒危或灭绝的主要因素。我们在这里回顾了已知的历史例子,其中疾病已经或被认为已经对动物物种产生了重大的有害影响,包括灭绝,并强调了一些最近的案例,其中疾病是导致特定物种彻底濒危的主要嫌疑人。我们的结论是,在种群或物种水平上,疾病在历史灭绝中的作用可能被低估了。最近在方法上的突破可能会使我们更好地了解传染病在影响种群适应性和其他参数方面的过去和现在的作用。
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引用次数: 64
期刊
International journal of evolutionary biology
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