translocations

易位
  • 文章类型: Journal Article
    全球化导致物种频繁地移出其本地栖息地。这些物种中的一些变得高度入侵,能够深刻地改变入侵的生态系统。野生猪(Susscrofa×domesticus)被认为是最具破坏性的入侵物种之一,人口分布在除南极洲以外的所有大陆。在美国(US),野猪是造成广泛作物损害的原因,本土生态系统的破坏,和疾病的传播。在过去的30年中,野猪的有目的的人类介导的运动有助于其范围的快速扩展。故意引入野猪的模式还没有得到很好的描述,因为种群可以通过小的,无证释放。通过利用广泛的基因组数据库18,789个样本的基因分型为35,141个单核苷酸多态性(SNP),我们使用深度神经网络来识别跨美国邻近区域的易位野猪。我们将20%(3364/16,774)的采样动物分类为易位,并使用网络分析中的中心性度量描述了易位的一般模式。这些发现揭示了野猪的广泛运动远远超出了它们的扩散能力,包括预测起源距离采样地点>1000公里的个体。我们的研究提供了深入了解人类介导的野猪在美国各地以及从加拿大到美国北部地区的运动模式。Further,我们的研究验证了使用神经网络来研究入侵物种的传播。
    Globalization has led to the frequent movement of species out of their native habitat. Some of these species become highly invasive and capable of profoundly altering invaded ecosystems. Feral swine (Sus scrofa × domesticus) are recognized as being among the most destructive invasive species, with populations established on all continents except Antarctica. Within the United States (US), feral swine are responsible for extensive crop damage, the destruction of native ecosystems, and the spread of disease. Purposeful human-mediated movement of feral swine has contributed to their rapid range expansion over the past 30 years. Patterns of deliberate introduction of feral swine have not been well described as populations may be established or augmented through small, undocumented releases. By leveraging an extensive genomic database of 18,789 samples genotyped at 35,141 single nucleotide polymorphisms (SNPs), we used deep neural networks to identify translocated feral swine across the contiguous US. We classified 20% (3364/16,774) of sampled animals as having been translocated and described general patterns of translocation using measures of centrality in a network analysis. These findings unveil extensive movement of feral swine well beyond their dispersal capabilities, including individuals with predicted origins >1000 km away from their sampling locations. Our study provides insight into the patterns of human-mediated movement of feral swine across the US and from Canada to the northern areas of the US. Further, our study validates the use of neural networks for studying the spread of invasive species.
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  • 文章类型: Journal Article
    背景:了解景观特征如何影响动物的运动对于在人类主导的栖息地中进行保护至关重要。一个基本的问题是如何单一种植农林,包括橡胶和茶园,影响野生动物及其运动。实验性易位代表了一种重要的技术来评估动物的栖息地选择,同时通过农业基质,特别是当与鸟类的自然运动的观察补充,和“控制”易位,鸟类在其自然栖息地如森林中移动。然而,实验性易位很少用于西半球以外的鸟类。
    方法:我们对一名林下森林专家进行了实验性易位和家庭范围测量,棕色封顶的巴布勒(BCBA,Pellorneumfuscocillus),一个森林通才,Tickell\'sBlueFlycatcher(TBFL,Cyornistickelliae)。这些物种在三个橡胶种植园中进行了研究,其中还包括一些主要种植茶叶的开放区域,和斯里兰卡的三个森林保护区。
    结果:在受干扰的栖息地(橡胶种植园)内转移的五个BCBA中有四个无法返回其捕获位置。然而,未受干扰的栖息地(森林保护区)内的所有四个个体在10.5白天小时内成功返回了起点。相比之下,所有TBFL在白天11.3小时内返回受干扰(n=7)和未受干扰的栖息地(n=3)的捕获位置。Cox比例生存模型表明,橡胶覆盖的百分比减少了返回时间,类似于开放区域覆盖的效果。家庭范围调查(BCBA的n=13,对于TBFL,n=10)表明,很少的鸟类自然栖息地被橡胶覆盖(对于BCBA,为0.2%,在50%内核密度估计KDE下,TBFL为13.1%)。与未受干扰的栖息地相比,BCBA的家园范围约为受干扰栖息地的一半,尽管TBFL的栖息地之间没有显着差异。
    结论:我们得出的结论是,橡胶种植园对于林下栖息地的专业鸟类来说是不可渗透的,甚至通才物种也可能长期避免它们。我们的发现强调了原生植被条的潜在效用,特别是那些以底层为特征的,作为走廊,以促进森林专家在以橡胶种植园和其他类型的受干扰栖息地为主的景观中的移动。
    BACKGROUND: Understanding how landscape characteristics affect animal movement is essential for conservation in human-dominated habitats. A fundamental question is how monoculture agroforests, including rubber and tea plantations, affect wildlife and its movement. Experimental translocations represent an important technique to assess animals\' habitat selection while moving through agricultural matrices, especially when complemented with observations of birds\' natural movements, and with \"control\" translocations, in which birds are moved within their natural habitat such as forest. Yet, experimental translocations have been little used for birds outside the Western Hemisphere.
    METHODS: We conducted experimental translocations and home-range measurements on an understory forest specialist, Brown-capped Babbler (BCBA, Pellorneum fuscocapillus), and a forest generalist, Tickell\'s Blue Flycatcher (TBFL, Cyornis tickelliae). These species were studied in three rubber plantations, which also included some open areas mostly planted with tea, and in three forest reserves of Sri Lanka.
    RESULTS: Four of the five BCBAs translocated within disturbed habitats (rubber plantations) could not return to their capture locations. However, all four individuals within undisturbed habitats (forest reserves) successfully returned to their point of origin within 10.5 daytime hours. In contrast, all TBFLs returned to their capture locations in both disturbed (n = 7) and undisturbed habitats (n = 3) within 11.3 daytime hours. A Cox-proportional survival model demonstrated that the percentage of rubber cover decreased return time, similar to the effect of open-area cover. The home range surveys (n = 13 for BCBA, n = 10 for TBFL) revealed that very little of the birds\' natural home-ranges was covered by rubber (0.2% for BCBA, 13.1% for TBFL at 50% Kernel Density Estimates KDE). Home range size for BCBA was approximately half the size in disturbed habitats compared to undisturbed ones, although there was no significant difference between habitats for TBFL.
    CONCLUSIONS: We conclude that rubber plantations can be impermeable to understory habitat specialist birds, and even generalist species may avoid them long-term. Our findings highlight the potential utility of strips of native vegetation, particularly those featuring understory layers, as corridors to facilitate the movement of forest specialists in landscapes dominated by rubber plantations and other types of disturbed habitats.
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  • 文章类型: Journal Article
    背景:淡水小龙虾出口需求的增加相结合,过度捕捞导致的人口规模减少,小龙虾瘟疫流行和栖息地退化,导致了希腊湖泊中Pontastacusleptodactylus的未记录易位。
    结果:在本研究中,五种窄爪小龙虾的遗传学(P.研究了钩足虫)种群,即居住在希腊北部的三个易位人口,来自埃夫罗斯河的一个本地希腊人口和来自土耳其的一个潜在后代来源人口。研究了以前为特定物种设计的九个微卫星基因座,为了评估遗传多样性的水平,并在易位事件发生几十年后进一步确认这些易位种群的起源。我们的结果证实,易位的希腊人口的来源人口是土耳其湖Eirdir。Further,尽管等位基因数量较低,杂合性,FST人口总体上是多样化的,为当地适应提供证据。
    结论:易位群体的FIS值低,基因流量值高,可能表明存在重新引入事件。除了易位的人口,在Evros种群中观察到高水平的遗传多样性和杂合性,建议将其作为未来保护目的的可能单位,既作为用于重新引入目的的供体群体,也作为独特的基因库保护来源。据我们所知,这是第一项研究来自希腊北部的希腊leptodactylus种群的遗传组成,作为制定适当管理措施的第一步,以补充库存事件和监测易位人口。
    BACKGROUND: The combination of the increasing demand of freshwater crayfish exports, the reduced population sizes due to overfishing, the crayfish plague epidemics and the habitat degradation, have led to unrecorded translocations of Pontastacus leptodactylus in Greek lakes.
    RESULTS: In the present study, the genetics of five narrow clawed crayfish (P. leptodactylus) populations were studied, namely three translocated populations inhabiting in Northern Greece, one native Greek population from Evros river and one potential progeny source population from Turkey. Nine microsatellite loci previously designed for the specific species were investigated, in order to assess the levels of genetic diversity and further to confirm the origin of these translocated populations some decades after the translocation events. Our results confirmed that the source population for the translocated Greek population is the Turkish lake Eğirdir. Further, despite the low values of the number of alleles, heterozygosity, and FST the populations were generally diverse, providing evidence for local adaptation.
    CONCLUSIONS: The low values of FIS for the translocated populations in combination with the high values of gene flow, possibly indicate the existence of re-introducing events. Apart from the translocated populations, high levels of genetic diversity and heterozygosity were observed in Evros population, suggesting it as a possible unit for future conservation purposes both as a donor population for reintroduction purposes as well as a unique gene pool protection source. To the best of our knowledge this is the first study dealing with the genetic composition of Greek P. leptodactylus populations from Nothern Greece, operating as a first step towards the development of proper management practices for restocking events and monitoring of translocated populations.
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  • 文章类型: Journal Article
    增加耗尽的遗传多样性可以提高野生动物种群的适应性和进化潜力,但是开发有效的管理方法需要基因监控的测试案例。一个这样的案例是小的,一种濒临灭绝的澳大利亚淡水鱼的孤立和近交的科特河种群,澳大利亚麦格理鲈鱼麦克斯,在过去的3年里(2017-2019年),接收了71名来自密切相关的易位移民,基因更多样化的人口。我们使用基因监测来测试移民是否繁殖,与当地鱼类杂交,种群遗传多样性增加。我们还调查了河流流量水平是否影响招募,近交抑郁和少年传播。鱼的长度被用来估计年龄,出生年队列和2016年至2020年间出生的524人在可变流量条件下的增长。DArT全基因组基因型用于评估个体祖先,杂合性,短期有效人口规模,并确定亲子关系和兄弟姐妹家庭。在易位开始后出生的442个人中,只有两个(0.45%)是混合血统;这些是半同胞,有一个易位的父母。科特河鱼类的五个出生年份队列的育种者数量和遗传多样性都很低,尤其是在低流量年份。此外,在最低流量年份出生的个体显然患有近亲繁殖抑制,以促进幼年生长。流量最高的年份与育种者数量最多的年份有关,后代近亲繁殖最低,幼体扩散距离最大。遗传多样性在上游方向下降,标记限制育种者进入最上游的育种地点,低河流流量加剧了。我们的结果表明,通过专注于上游站点并每年移动更多的个体,可以提高易位的有效性;应考虑使用河流来源。我们的结果表明,河流流量足以促进鱼类在系统中的流动会增加育种者的数量,促进个人成长,减少近交抑郁症,促进遗传拯救。
    Augmenting depleted genetic diversity can improve the fitness and evolutionary potential of wildlife populations, but developing effective management approaches requires genetically monitored test cases. One such case is the small, isolated and inbred Cotter River population of an endangered Australian freshwater fish, the Macquarie perch Macquaria australasica, which over 3 years (2017-2019) received 71 translocated migrants from a closely related, genetically more diverse population. We used genetic monitoring to test whether immigrants bred, interbred with local fish and augmented population genetic diversity. We also investigated whether levels of river flow affected recruitment, inbreeding depression and juvenile dispersal. Fish length was used to estimate the age, birth year cohort and growth of 524 individuals born between 2016 and 2020 under variable flow conditions. DArT genome-wide genotypes were used to assess individual ancestry, heterozygosity, short-term effective population size and identify parent-offspring and full-sibling families. Of 442 individuals born after translocations commenced, only two (0.45%) were of mixed ancestry; these were half-sibs with one translocated parent in common. Numbers of breeders and genetic diversity for five birth year cohorts of the Cotter River fish were low, especially in low-flow years. Additionally, individuals born in the year of lowest flow evidently suffered from inbreeding depression for juvenile growth. The year of highest flow was associated with the largest number of breeders, lowest inbreeding in the offspring and greatest juvenile dispersal distances. Genetic diversity decreased in the upstream direction, flagging restricted access of breeders to the most upstream breeding sites, exacerbated by low river flow. Our results suggest that the effectiveness of translocations could be increased by focussing on upstream sites and moving more individuals per year; using riverine sources should be considered. Our results indicate that river flow sufficient to facilitate fish movement through the system would increase the number of breeders, promote individuals\' growth, reduce inbreeding depression and promote genetic rescue.
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  • 文章类型: Journal Article
    CRISPR-Cas核酸酶的不期望的靶上和脱靶效应仍然是基因组编辑中的挑战。虽然Cas9切口酶的使用已被证明可以最大程度地减少脱靶诱变,它们在治疗性基因组编辑中的使用因缺乏功效而受到阻碍。为了克服这个限制,我们和其他人已经开发了基于双切口酶的策略来产生交错的DNA双链断裂,以高效地介导基因破坏或基因校正。然而,成对的单链缺口对基因组完整性的影响在很大程度上仍未被研究.这里,我们开发了一种新的CAST-Seq管道,D-CAST,表征成对的CRISPR-Cas9切口酶在源自大疱性表皮松解症患者的原代角质形成细胞中三个不同位点诱导的染色体畸变。虽然用Cas9核酸酶靶向COL7A1,COL17A1或LAMA3引起以前未描述的染色体重排,配对切口酶编辑后未检测到染色体易位.虽然双切口策略在所有三个基因座的靶位点周围的10kb区域内诱导大的缺失/倒位,类似于核酸酶,染色体上的目标畸变在质量上是不同的,并且包括高比例的插入.一起来看,我们的数据表明,双切口方法结合了有效的编辑和大大减少的脱靶效应,但仍在目标位点留下大量染色体畸变。
    Undesired on- and off-target effects of CRISPR-Cas nucleases remain a challenge in genome editing. While the use of Cas9 nickases has been shown to minimize off-target mutagenesis, their use in therapeutic genome editing has been hampered by a lack of efficacy. To overcome this limitation, we and others have developed double-nickase-based strategies to generate staggered DNA double-strand breaks to mediate gene disruption or gene correction with high efficiency. However, the impact of paired single-strand nicks on genome integrity has remained largely unexplored. Here, we developed a novel CAST-seq pipeline, dual CAST, to characterize chromosomal aberrations induced by paired CRISPR-Cas9 nickases at three different loci in primary keratinocytes derived from patients with epidermolysis bullosa. While targeting COL7A1, COL17A1, or LAMA3 with Cas9 nucleases caused previously undescribed chromosomal rearrangements, no chromosomal translocations were detected following paired-nickase editing. While the double-nicking strategy induced large deletions/inversions within a 10 kb region surrounding the target sites at all three loci, similar to the nucleases, the chromosomal on-target aberrations were qualitatively different and included a high proportion of insertions. Taken together, our data indicate that double-nickase approaches combine efficient editing with greatly reduced off-target effects but still leave substantial chromosomal aberrations at on-target sites.
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  • 文章类型: Journal Article
    在过去的10,000年中,人类操纵了休养鹿种群,结果各不相同。波斯小鹿(DamaMesopotamica)现在濒临灭绝。欧洲小鹿(DamaDama)在全球范围内很普遍,同时被认为是野生的,domestic,濒临灭绝,入侵,甚至是巴布达和安提瓜的国家动物。尽管他们与人们有密切的联系,对于它们的自然范围或人类介导的易位和灭绝的时间和情况没有共识。我们对现代和考古标本的线粒体分析揭示了安纳托利亚和巴尔干地区存在的欧洲小鹿的两个不同分支。动物考古学证据表明,这些地区是它们唯一的冰川避难所。通过将生物分子分析与考古和文本证据相结合,我们绘制了波斯小鹿的分布下降图,并证明人类反复转移欧洲小鹿,来自地理上最遥远的人群。被带到新石器时代的希俄斯和罗得岛的鹿不是来自附近的安纳托利亚,来自巴尔干半岛。尽管作为与希腊罗马女神阿耳特弥斯和戴安娜的联系的一部分,休养鹿在整个地中海转移了位置,被带到罗马马洛卡的鹿在当地没有DamaDama,而是Dama美索不达米亚.罗马人最初也将休养鹿引入北欧,但该物种已灭绝,并在中世纪重新引入。这次来自安纳托利亚.然后,欧洲殖民大国将鹿种群运送到全球各地。小鹿的生物文化历史挑战了人们对野生和国内物种之间划分的先入之见,并提供了应支持现代管理策略的信息。
    Over the last 10,000 y, humans have manipulated fallow deer populations with varying outcomes. Persian fallow deer (Dama mesopotamica) are now endangered. European fallow deer (Dama dama) are globally widespread and are simultaneously considered wild, domestic, endangered, invasive and are even the national animal of Barbuda and Antigua. Despite their close association with people, there is no consensus regarding their natural ranges or the timing and circumstances of their human-mediated translocations and extirpations. Our mitochondrial analyses of modern and archaeological specimens revealed two distinct clades of European fallow deer present in Anatolia and the Balkans. Zooarchaeological evidence suggests these regions were their sole glacial refugia. By combining biomolecular analyses with archaeological and textual evidence, we chart the declining distribution of Persian fallow deer and demonstrate that humans repeatedly translocated European fallow deer, sourced from the most geographically distant populations. Deer taken to Neolithic Chios and Rhodes derived not from nearby Anatolia, but from the Balkans. Though fallow deer were translocated throughout the Mediterranean as part of their association with the Greco-Roman goddesses Artemis and Diana, deer taken to Roman Mallorca were not locally available Dama dama, but Dama mesopotamica. Romans also initially introduced fallow deer to Northern Europe but the species became extinct and was reintroduced in the medieval period, this time from Anatolia. European colonial powers then transported deer populations across the globe. The biocultural histories of fallow deer challenge preconceptions about the divisions between wild and domestic species and provide information that should underpin modern management strategies.
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  • 文章类型: Journal Article
    澳大利亚肺鱼是Dipnoi亚类的原始和濒危代表。该物种的分布仅限于昆士兰州东南部,一些人口被认为是地方性的,另一些人口可能是在19世纪后期欧洲发现后不久从易位下降的。基于描述性遗传研究,试图解决该物种的历史分布问题的结果相互矛盾。了解如果所有人口都是地方性的,或者一些是由以下因素导致的,或受影响,易位事件,对保护管理有影响。在这项工作中,我们分析了三种类型标记的遗传变异(mtDNA基因组,11个STR和5196个核SNP)使用近似贝叶斯计算(ABC)算法比较几种人口统计学模型。我们假设玛丽河和伯内特河基因库对布里斯班河和北松河种群的贡献不同,与记录的易位事件有关。我们分别对每种标记进行了分析,我们还估计了结合标记的模型的后验概率。核SNP具有在模拟数据集(已知模型的位置)中正确识别真实模型的最高能力,但不同的标记类型通常提供类似的答案。能够解释真实数据集的最受支持的人口统计学模型意味着,布里斯班和北松河中仍然存在地方性基因库,并且与过去记录的易位事件衍生的基因库共存。这些结果支持以下观点:ABC建模可用于重建具有当代含义的复杂历史易位事件,并将为正在进行的濒危和标志性澳大利亚肺鱼的保护工作提供信息。
    The Australian lungfish is a primitive and endangered representative of the subclass Dipnoi. The distribution of this species is limited to south-east Queensland, with some populations considered endemic and others possibly descending from translocations in the late nineteenth century shortly after European discovery. Attempts to resolve the historical distribution of this species have met with conflicting results based on descriptive genetic studies. Understanding if all populations are endemic or some are the result of, or influenced by, translocation events, has implications for conservation management. In this work, we analysed the genetic variation at three types of markers (mtDNA genomes, 11 STRs and 5196 nuclear SNPs) using the approximate Bayesian computation (ABC) algorithm to compare several demographic models. We postulated different contributions of Mary River and Burnett River gene pools into the Brisbane River and North Pine River populations, related to documented translocation events. We ran the analysis for each marker type separately, and we also estimated the posterior probabilities of the models combining the markers. Nuclear SNPs have the highest power to correctly identify the true model among the simulated datasets (where the model was known), but different marker types typically provided similar answers. The most supported demographic model able to explain the real dataset implies that an endemic gene pool is still present in the Brisbane and North Pine Rivers and coexists with the gene pools derived from past documented translocation events. These results support the view that ABC modelling can be useful to reconstruct complex historical translocation events with contemporary implications, and will inform ongoing conservation efforts for the endangered and iconic Australian lungfish.
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  • 文章类型: Journal Article
    背景:BOP(Bambusoideae,Oryzoideae,和Pooideae)禾本科的进化枝具有共同的祖先,与水稻的基因组相似,水稻(2n=24;基因组大小389Mb)和短枝,短臂远齿(2n=10;271Mb)。我们利用染色体尺度的基因组组装来显示基因组扩增的性质,结构变异,以及水稻和短枝的染色体重排,到Aveneae部落的二倍体(例如,Avenalongglumis,2n=2x=14;3,961Mb在染色体中组装为3,850Mb)。
    结果:大多数Avena染色体臂在基因组大小增加10倍至15倍时显示出相对均匀的扩增。除了非编码序列的多样化和着丝粒周围的积累,基因块不会散布重复块,即使在次终端区域。就像在部落里一样,在具有染色体融合的被分析物种之间观察到保守的合生体块,裂变,和嵌套(插入)事件显示在基因组扩展过程中染色体结构的深度进化保守性。出乎意料的是,末端基因丰富的染色体片段(代表约50Mb)在物种形成过程中显示染色体之间的易位,在Aveneae部落中基因组特异性重复元件的均质化。在六倍体A中发现了类似程度的新形成的基因组间易位。
    结论:该研究提供了对BOP进化枝的进化机制和物种形成的见解,这对生物多样性的测量很有价值,进化枝宽的pangenome的发展,并通过禾本科育种计划开发基因组多样性。
    BACKGROUND: The BOP (Bambusoideae, Oryzoideae, and Pooideae) clade of the Poaceae has a common ancestor, with similarities to the genomes of rice, Oryza sativa (2n = 24; genome size 389 Mb) and Brachypodium, Brachypodium distachyon (2n = 10; 271 Mb). We exploit chromosome-scale genome assemblies to show the nature of genomic expansion, structural variation, and chromosomal rearrangements from rice and Brachypodium, to diploids in the tribe Aveneae (e.g., Avena longiglumis, 2n = 2x = 14; 3,961 Mb assembled to 3,850 Mb in chromosomes).
    RESULTS: Most of the Avena chromosome arms show relatively uniform expansion over the 10-fold to 15-fold genome-size increase. Apart from non-coding sequence diversification and accumulation around the centromeres, blocks of genes are not interspersed with blocks of repeats, even in subterminal regions. As in the tribe Triticeae, blocks of conserved synteny are seen between the analyzed species with chromosome fusion, fission, and nesting (insertion) events showing deep evolutionary conservation of chromosome structure during genomic expansion. Unexpectedly, the terminal gene-rich chromosomal segments (representing about 50 Mb) show translocations between chromosomes during speciation, with homogenization of genome-specific repetitive elements within the tribe Aveneae. Newly-formed intergenomic translocations of similar extent are found in the hexaploid A. sativa.
    CONCLUSIONS: The study provides insight into evolutionary mechanisms and speciation in the BOP clade, which is valuable for measurement of biodiversity, development of a clade-wide pangenome, and exploitation of genomic diversity through breeding programs in Poaceae.
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  • 文章类型: Journal Article
    自发的染色体重排(CRs)在物种形成中起着至关重要的作用,基因组进化和作物驯化。为了能够利用CR的潜力进行育种,植物染色体工程是通过X射线辐射使染色体分裂而启动的。随着CRISPR/Cas系统的兴起,可以在任意染色体位置以高效的方式诱导双链断裂(DSB)。这使得预先设计的染色体工程达到了全新的水平。可以通过诱导染色体易位来打破特定基因之间的遗传连锁。自然倒立,抑制基因交换,可以恢复繁殖。此外,通过缩小常规标准A或超数B染色体来构建微小染色体的各种方法,它可以作为植物生物技术的未来载体,已经开发了。最近,可以构建功能性合成着丝粒。此外,已经建立了不同的基因组单倍体化方法,一些基于着丝粒操作。在未来,我们希望看到更复杂的重组,它可以与以前开发的工程技术相结合,如重组酶。染色体工程可能有助于重新定义遗传连锁群,改变染色体的数量,在小型货物染色体上堆叠有益基因,或建立遗传隔离以避免异交。
    Spontaneous chromosomal rearrangements (CRs) play an essential role in speciation, genome evolution and crop domestication. To be able to use the potential of CRs for breeding, plant chromosome engineering was initiated by fragmenting chromosomes by X-ray irradiation. With the rise of the CRISPR/Cas system, it became possible to induce double-strand breaks (DSBs) in a highly efficient manner at will at any chromosomal position. This has enabled a completely new level of predesigned chromosome engineering. The genetic linkage between specific genes can be broken by inducing chromosomal translocations. Natural inversions, which suppress genetic exchange, can be reverted for breeding. In addition, various approaches for constructing minichromosomes by downsizing regular standard A or supernumerary B chromosomes, which could serve as future vectors in plant biotechnology, have been developed. Recently, a functional synthetic centromere could be constructed. Also, different ways of genome haploidization have been set up, some based on centromere manipulations. In the future, we expect to see even more complex rearrangements, which can be combined with previously developed engineering technologies such as recombinases. Chromosome engineering might help to redefine genetic linkage groups, change the number of chromosomes, stack beneficial genes on mini cargo chromosomes, or set up genetic isolation to avoid outcrossing.
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  • 文章类型: English Abstract
    随着与复发性驱动分子改变相关的新实体的描述,子宫肉瘤的景观变得越来越复杂。子宫肉瘤,类似于软组织肉瘤,分为复杂基因组肉瘤和简单基因组肉瘤。平滑肌肉瘤和未分化子宫肉瘤属于复杂基因组肉瘤组。低级和高级子宫内膜间质肉瘤,其他与融合转录本相关的罕见肿瘤(如NTRK,PDGFB,ALK,RETROS1)和SMARCA4缺陷型子宫肉瘤被认为是简单的基因组肉瘤。最常见的子宫肉瘤首先是平滑肌肉瘤,其次是子宫内膜间质肉瘤。平滑肌肉瘤的三种不同组织学亚型(梭形,粘液样,上皮样)被识别,粘液样和上皮样平滑肌肉瘤比梭形平滑肌肉瘤更具侵袭性。低级和高级子宫内膜间质肉瘤之间的区别主要是形态学和免疫组织化学,融合转录本的检测可以帮助诊断。子宫PEComa是一种罕见的肿瘤,分为边缘和恶性,根据风险评估算法。子宫颈的胚胎性横纹肌肉瘤在儿童中更常见,但也可发生在成年女性中。子宫颈的胚胎性横纹肌肉瘤几乎总是DICER1突变,与野生型DICER1的阴道和DICER1突变但频率较低的腺肉瘤不同。在新兴实体中,与涉及NTRK的融合转录本相关的肉瘤,ALK,PDGFB基因受益于靶向治疗。分子数据与组织学和临床数据的整合可以更好地鉴定子宫肉瘤,以便更好地治疗它们。
    The landscape of uterine sarcomas is becoming more complex with the description of new entities associated with recurrent driver molecular alterations. Uterine sarcomas, in analogy with soft tissue sarcomas, are distinguished into complex genomic and simple genomic sarcomas. Leiomyosarcomas and undifferentiated uterine sarcomas belong to complex genomic sarcomas group. Low-grade and high-grade endometrial stromal sarcomas, other rare tumors associated with fusion transcripts (such as NTRK, PDGFB, ALK, RET ROS1) and SMARCA4-deficient uterine sarcoma are considered simple genomic sarcomas. The most common uterine sarcoma are first leiomyosarcoma and secondly endometrial stromal sarcomas. Three different histological subtypes of leiomyosarcoma (fusiform, myxoid, epithelioid) are identified, myxoid and epithelioid leiomyosarcoma being more aggressive than fusiform leiomyosarcoma. The distinction between low-grade and high-grade endometrial stromal sarcoma is primarily morphological and immunohistochemical and the detection of fusion transcripts can help the diagnosis. Uterine PEComa is a rare tumor, which is distinguished into borderline and malignant, according to a risk assessment algorithm. Embryonal rhabdomyosarcoma of the uterine cervix is more common in children but can also occur in adult women. Embryonal rhabdomyosarcoma of the uterine cervix is almost always DICER1 mutated, unlike that of the vagina which is wild-type DICER1, and adenosarcoma which can be DICER1 mutated but with less frequency. Among the emerging entities, sarcomas associated with fusion transcripts involving the NTRK, ALK, PDGFB genes benefit from targeted therapy. The integration of molecular data with histology and clinical data allows better identification of uterine sarcomas in order to better treat them.
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