Novel genes

新基因
  • 文章类型: Journal Article
    驯化塑造了茶树的种群结构和农艺性状,然而,决定这些性状的茶叶种群结构和遗传变异的复杂性仍不清楚。我们在这里调查了从几乎所有茶分布中广泛收集的363种不同茶树种的重新测序数据,发现茶树的种群结构分为八个亚组,与它们的地理分布基本一致。随着纬度的增加,中国茶树的遗传多样性从西南到东降低。结果还表明,茶树var。assamica(CSA)说明了山茶的不同选择特征。中华(CSS)。CSA的驯化基因主要参与叶片发育,类黄酮和生物碱的生物合成,而CSS中的驯化基因主要参与氨基酸代谢,芳香化合物生物合成,冷压力。比较群体基因组学进一步鉴定了约730Mb的新序列,产生6,058个全长蛋白质编码基因,显着扩大茶树的基因库。我们还发现了217,376个大规模的结构变化和56,583个存在和不存在的变化(PAV)在不同的茶叶品种,其中一些与茶叶品质和抗逆性有关。功能实验表明,两个PAV基因(CSS0049975和CSS0006599)可能会驱动CSA和CSS茶树之间耐寒性的性状多样化。总体发现不仅揭示了茶树的遗传多样性和驯化,但也强调了结构变化在茶树性状多样化中的重要作用。
    Domestication has shaped the population structure and agronomic traits of tea plants, yet the complexity of tea population structure and genetic variation that determines these traits remains unclear. We here investigated the resequencing data of 363 diverse tea accessions collected extensively from almost all tea distributions and found that the population structure of tea plants was divided into eight subgroups, which were basically consistent with their geographical distributions. The genetic diversity of tea plants in China decreased from southwest to east as latitude increased. Results also indicated that Camellia sinensis var. assamica (CSA) illustrated divergent selection signatures with Camellia sinensis var. sinensis (CSS). The domesticated genes of CSA were mainly involved in leaf development, flavonoid and alkaloid biosynthesis, while the domesticated genes in CSS mainly participated in amino acid metabolism, aroma compounds biosynthesis, and cold stress. Comparative population genomics further identified ~730 Mb novel sequences, generating 6,058 full-length protein-encoding genes, significantly expanding the gene pool of tea plants. We also discovered 217,376 large-scale structural variations and 56,583 presence and absence variations (PAVs) across diverse tea accessions, some of which were associated with tea quality and stress resistance. Functional experiments demonstrated that two PAV genes (CSS0049975 and CSS0006599) were likely to drive trait diversification in cold tolerance between CSA and CSS tea plants. The overall findings not only revealed the genetic diversity and domestication of tea plants, but also underscored the vital role of structural variations in the diversification of tea plant traits.
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  • 文章类型: Journal Article
    背景:牦牛的遗传多样性,青藏高原(QTP)的主要家畜,是驯化和育种工作的重要资源。本研究介绍了通过16个牦牛基因组的从头组装获得的第一个牦牛基因组。
    结果:我们发现了290Mb的非参考序列和504个新基因。我们的全基因组存在和不存在变异(PAV)分析揭示了5120个PAV相关基因,突出了广泛的品种特异性基因和在牦牛种群中频率不同的基因。基于二元基因PAV数据的主成分分析(PCA)将牦牛分为三个新的群体:野生,domestic,和金川。此外,我们提出了一个“双单倍型基因组杂交模型”,通过整合基因频率来理解品种间的杂交模式,杂合性,和基因PAV数据。PAV-GWAS基因鉴定出一个新基因(BosGru3G009179),该基因可能与金川牦牛的多肋性状有关。此外,整合的转录组和pangenome分析强调了高海拔和低海拔牦牛之间核心基因表达和差异表达基因突变负担的显著差异。跨多个物种的转录组分析显示,牦牛具有最独特的差异表达的mRNAs和lncRNAs(在高海拔和低海拔地区之间),尤其是在心脏和肺部,比较高空和低空适应性时。
    结论:牦牛pangenome为功能基因组研究提供了全面的资源和新的见解,支持未来的生物学研究和育种策略。
    BACKGROUND: The genetic diversity of yak, a key domestic animal on the Qinghai-Tibetan Plateau (QTP), is a vital resource for domestication and breeding efforts. This study presents the first yak pangenome obtained through the de novo assembly of 16 yak genomes.
    RESULTS: We discovered 290 Mb of nonreference sequences and 504 new genes. Our pangenome-wide presence and absence variation (PAV) analysis revealed 5,120 PAV-related genes, highlighting a wide range of variety-specific genes and genes with varying frequencies across yak populations. Principal component analysis (PCA) based on binary gene PAV data classified yaks into three new groups: wild, domestic, and Jinchuan. Moreover, we proposed a \'two-haplotype genomic hybridization model\' for understanding the hybridization patterns among breeds by integrating gene frequency, heterozygosity, and gene PAV data. A gene PAV-GWAS identified a novel gene (BosGru3G009179) that may be associated with the multirib trait in Jinchuan yaks. Furthermore, an integrated transcriptome and pangenome analysis highlighted the significant differences in the expression of core genes and the mutational burden of differentially expressed genes between yaks from high and low altitudes. Transcriptome analysis across multiple species revealed that yaks have the most unique differentially expressed mRNAs and lncRNAs (between high- and low-altitude regions), especially in the heart and lungs, when comparing high- and low-altitude adaptations.
    CONCLUSIONS: The yak pangenome offers a comprehensive resource and new insights for functional genomic studies, supporting future biological research and breeding strategies.
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  • 文章类型: Journal Article
    软糖枯萎病(GSB),一种广泛的疾病,对葫芦的生产造成巨大损失,已经成为甜瓜种植的主要威胁。然而,甜瓜-GSB的相互作用在很大程度上仍然未知。这里,使用全长转录组和广泛靶向的代谢组来研究抗性(PI511089)和易感(Payzawat)甜瓜在24小时对GSB病原体感染的防御反应。次级代谢产物的生物合成和MAPK信号通路在PI511890中特异性富集差异表达基因,而碳水化合物代谢和氨基酸代谢在Payzawat中特异性富集。在PI51890中鉴定了超过1000个新基因,并为它们特异性富集了MAPK信号通路。对GSB的防御反应涉及11793个可变剪接事件。完全正确,在Payzawat和PI511890中鉴定出910种代谢物,黄酮类化合物是主要代谢物。整合的全长转录组和代谢组分析显示,苦参碱和草酸是甜瓜GSB抗性的潜在标记代谢产物。此外,转录后调控广泛参与甜瓜对GSB病原体感染的防御反应。这些结果不仅提高了我们对甜瓜和GSB之间相互作用的理解,而且还有利于具有GSB抗性的甜瓜的遗传改良。
    Gummy stem blight (GSB), a widespread disease causing great loss to cucurbit production, has become a major threat to melon cultivation. However, the melon-GSB interaction remains largely unknown. Here, full-length transcriptome and widely targeted metabolome were used to investigate the defence responses of resistant (PI511089) and susceptible (Payzawat) melon accessions to GSB pathogen infection at 24 h. The biosynthesis of secondary metabolites and MAPK signalling pathway were specifically enriched for differentially expressed genes in PI511890, while carbohydrate metabolism and amino acid metabolism were specifically enriched in Payzawat. More than 1000 novel genes were identified and MAPK signalling pathway was specifically enriched for them in PI511890. There were 11 793 alternative splicing events involving in the defence response to GSB. Totally, 910 metabolites were identified in Payzawat and PI511890, and flavonoids were the dominant metabolites. Integrated full-length transcriptome and metabolome analysis showed eriodictyol and oxalic acid were the potential marker metabolites for GSB resistance in melon. Moreover, posttranscription regulation was widely involved in the defence response of melon to GSB pathogen infection. These results not only improve our understanding on the interaction between melon and GSB, but also facilitate the genetic improvement of melon with GSB resistance.
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  • 文章类型: Journal Article
    细胞的进化史以复杂性急剧增加为标志。一些人假设这种细胞复合需要巨大的能量通量,因为新特征的起源比它们的进化维护在能量上更昂贵。然而,目前尚不清楚细胞复杂性的增加如何需要更多的能量。我认为,具有弱功能的新基因的早期进化会在其功能被进化完善之前通过过度表达而增加更高的能量成本。从长远来看,新基因的积累使资源偏离了生长和繁殖。应计的蜂窝复杂性进一步需要额外的基础设施来进行维护。总之,这表明,更大和更复杂的细胞被定义为增加的存活率,但较低的生殖能力。
    The evolutionary history of cells has been marked by drastic increases in complexity. Some hypothesize that such cellular complexification requires a massive energy flux as the origin of new features is hypothetically more energetically costly than their evolutionary maintenance. However, it remains unclear how increases in cellular complexity demand more energy. I propose that the early evolution of new genes with weak functions imposes higher energetic costs by overexpression before their functions are evolutionarily refined. In the long term, the accumulation of new genes deviates resources away from growth and reproduction. Accrued cellular complexity further requires additional infrastructure for its maintenance. Altogether, this suggests that larger and more complex cells are defined by increased survival but lower reproductive capacity.
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  • 文章类型: Review
    越来越多的理解是代表个体的参考基因组不能捕获物种的所有基因库。这里,我们使用来自534个个体的全基因组测序数据,对中国家猪进行了群体规模的缺失序列检测.我们鉴定了132.41Mb在参考装配中不存在的序列,包括八个新基因。特别是,与其他品种相比,在中国高海拔地区传播的品种在启动子中出现新序列的频率显着不同。此外,我们剖析了非编码变体的作用,并鉴定了插入FMO3基因的3UTR中的新序列,这可能与肌内脂肪表型有关。这种新序列可能是肉质的候选标记。我们的研究提供了中国家猪缺失序列的全面概述,并表明该数据集是了解猪的多样性和生物学的宝贵资源。
    There is an increasing understanding that a reference genome representing an individual cannot capture all the gene repertoire of a species. Here, we conduct a population-scale missing sequences detection of Chinese domestic pigs using whole-genome sequencing data from 534 individuals. We identify 132.41 Mb of sequences absent in the reference assembly, including eight novel genes. In particular, the breeds spread in Chinese high-altitude regions perform significantly different frequencies of new sequences in promoters than other breeds. Furthermore, we dissect the role of non-coding variants and identify a novel sequence inserted in the 3\'UTR of the FMO3 gene, which may be associated with the intramuscular fat phenotype. This novel sequence could be a candidate marker for meat quality. Our study provides a comprehensive overview of the missing sequences in Chinese domestic pigs and indicates that this dataset is a valuable resource for understanding the diversity and biology of pigs.
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  • 文章类型: Journal Article
    模型生物的能力,秀丽隐杆线虫,区分和逃离致病菌已经被广泛研究;然而,关于南方根结线虫排斥反应的研究仍处于起步阶段。我们最近证明,生物防治细菌通过两种经典的信号通路在隐身分枝杆菌中诱导排斥反应。本研究旨在鉴定可能有助于其防御反应的M.incognita的新基因和信号分子。对有和没有针对线虫芽孢杆菌B16的排斥反应的隐身分枝杆菌的转录组数据的分析获得了15个候选基因,其中发现新基因Minc3s01748g26034和Minc3s02548g30585调节隐身支原体的厌恶行为,并对其功能进行了进一步验证。为了进一步证实这两个新基因在M.incognita中的神经元定位,使用10个标记基因的地高辛标记探针进行原位杂交,并优先分析隐身支原体两栖动物感觉神经元的定位。对概述的神经元图的分析表明,Minc3s01748g26034和Minc3s02548g30585在ASK/ASI和CEPD/V神经元中起作用,分别。在他们的互动中,生物控制细菌产生的挥发性化合物3-甲基-丁酸和2-甲基-丁酸被预测为主要信号分子,可促进隐身分枝杆菌对生物控制细菌的排斥行为。这些发现为隐身支原体排斥反应的潜在机制提供了新的见解,这些机制不同于先前在秀丽隐杆线虫中发现的规范分子途径,并且可以帮助开发控制根结线虫的新策略。
    The ability of the model organism, Caenorhabditis elegans, to distinguish and escape from pathogenic bacteria has been extensively studied; however, studies on the repulsive response of Meloidogyne incognita are still in their infancy. We have recently demonstrated that biocontrol bacteria induce a repulsive response in M. incognita via two classical signaling pathways. The present study aimed to identify the novel genes and signaling molecules of M. incognita that potentially contribute to its defense reaction. Analysis of the transcriptome data of M. incognita with and without a repulsive response against Bacillus nematocida B16 obtained 15 candidate genes, of which the novel genes Minc3s01748g26034 and Minc3s02548g30585 were found to regulate the aversive behavior of M. incognita, and their functions were further validated. To further confirm the neuronal localization of the two novel genes in M. incognita, in situ hybridization was conducted using the digoxin-labeled probes of ten tag genes, and preferentially profiled the localization of amphid sensory neurons of M. incognita. Analysis of the overviewed neuronal map suggested that Minc3s01748g26034 and Minc3s02548g30585 functioned in ASK/ASI and CEPD/V neurons, respectively. During their interactions, the volatile compounds 3-methyl-butyric acid and 2-methyl-butyric acid produced by the biocontrol bacteria were predicted as the primary signaling molecules that promoted the repulsive behavior of M. incognita against biocontrol bacteria. The findings provided novel insights into the mechanisms underlying the repulsive response of M. incognita that are different from the canonical molecular pathways previously found in C. elegans and can aid in developing novel strategies for controlling root-knot nematodes.
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  • 文章类型: Journal Article
    已在基因组中鉴定但在功能方面仍未表征的基因提供了发现新生物学信息的机会。新颖性令人兴奋,但也可能是一个障碍。如果什么都不知道,一个人如何开始计划和执行实验?在这里,我们提供了推荐的信息挖掘工作流程和相应的指南,以访问有关未表征的果蝇基因的信息,例如仅分配了系统编码基因标识符的那些。可用的信息可以提供有关基因表达的地点和时间的见解,基因的功能可能是什么,其他物种是否有相似的基因,是否与其他基因有已知的关系,以及是否已经确定了任何其他特征。此外,有关相关试剂的可用信息可以激发和促进实验研究。总之,挖掘可用信息可以帮助确定基因的优先次序,以便进一步研究,以及提供实验测定和其他分析的起点。
    Genes that have been identified in the genome but remain uncharacterized with regards to function offer an opportunity to uncover novel biological information. Novelty is exciting but can also be a barrier. If nothing is known, how does one start planning and executing experiments? Here, we provide a recommended information-mining workflow and a corresponding guide to accessing information about uncharacterized Drosophila melanogaster genes, such as those assigned only a systematic coding gene identifier. The available information can provide insights into where and when the gene is expressed, what the function of the gene might be, whether there are similar genes in other species, whether there are known relationships to other genes, and whether any other features have already been determined. In addition, available information about relevant reagents can inspire and facilitate experimental studies. Altogether, mining available information can help prioritize genes for further study, as well as provide starting points for experimental assays and other analyses.
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  • 文章类型: Journal Article
    背景:雌雄异株植物在不同的植物上具有雄花和雌花。荷荷巴是一种雌雄异株的植物,耐旱,原产于干旱地区。最近报道了雄性和雌性植物的基因组序列,揭示了X和Y染色体系统,在Y染色体上有两个大的男性特异性插入。
    结果:在雄性和雌性荷荷巴植物的花之间鉴定了总共16,923个差异表达基因(DEG)。这代表了基因组中40%的注释基因。许多基因,包括那些负责植物环境反应和那些编码转录因子(TFs),是男性或女性生殖器官特有的。还发现参与植物激素代谢的基因与花和花粉发育有关。在雄花和雌花之间的比较中,总共鉴定出8938个上调基因和7985个下调基因,包括许多霍霍巴植物特有的新基因。差异表达最多的基因与生殖器官发育有关。在雄性植物中,与Y染色体连锁的DEG数目最高。Y染色体的雄性特定部分编码12个非常高表达的基因,包括9个新基因和3个与TF和植物激素相关的已知基因,这些基因可能在花的发育中起重要作用。
    结论:许多基因,主要是未知的函数,可以解释荷荷巴植物的性二态和雌雄花的分化。
    BACKGROUND: Dioecious plants have male and female flowers on separate plants. Jojoba is a dioecious plant that is drought-tolerant and native to arid areas. The genome sequence of male and female plants was recently reported and revealed an X and Y chromosome system, with two large male-specific insertions in the Y chromosome.
    RESULTS: A total of 16,923 differentially expressed genes (DEG) were identified between the flowers of the male and female jojoba plants. This represented 40% of the annotated genes in the genome. Many genes, including those responsible for plant environmental responses and those encoding transcription factors (TFs), were specific to male or female reproductive organs. Genes involved in plant hormone metabolism were also found to be associated with flower and pollen development. A total of 8938 up-regulated and 7985 down-regulated genes were identified in comparison between male and female flowers, including many novel genes specific to the jojoba plant. The most differentially expressed genes were associated with reproductive organ development. The highest number of DEG were linked with the Y chromosome in male plants. The male specific parts of the Y chromosome encoded 12 very highly expressed genes including 9 novel genes and 3 known genes associated with TFs and a plant hormone which may play an important role in flower development.
    CONCLUSIONS: Many genes, largely with unknown functions, may explain the sexual dimorphisms in jojoba plants and the differentiation of male and female flowers.
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  • 文章类型: Journal Article
    背景:东方河对虾(Macrobrachiumnipponense)是中国对虾养殖中最主要的物种之一,它是蛋白质的丰富来源,对人类生活质量有重大影响。因此,更完整、准确的基因模型注释对东方河虾的育种研究具有重要意义。
    结果:使用PacBioSequel平台获得了东方河对虾肌肉的全长转录组。然后,对37.99Gb的亚读段进行了测序,包括584,498个环状共有序列,其中512,216个为全长非嵌合序列。在基于Illumina的长PacBio读数校正之后,鉴定了6,599个错误校正的同种型。转录组结构分析揭示了2,263和2,555个选择性剪接(AS)事件和选择性聚腺苷酸化(APA)位点,分别。总的来说,620个新基因(NGs),197个推定转录因子(TFs),并鉴定出291种新的长链非编码RNA(lncRNA)。
    结论:总之,这项研究为这种对虾的转录组复杂性和多样性提供了新的见解,并为理解东方河虾的基因组结构和改进基因组草图注释提供了有价值的信息。
    BACKGROUND: Oriental river prawn (Macrobrachium nipponense) is one of the most dominant species in shrimp farming in China, which is a rich source of protein and contributes to a significant impact on the quality of human life. Thus, more complete and accurate annotation of gene models are important for the breeding research of oriental river prawn.
    RESULTS: A full-length transcriptome of oriental river prawn muscle was obtained using the PacBio Sequel platform. Then, 37.99 Gb of subreads were sequenced, including 584,498 circular consensus sequences, among which 512,216 were full length non-chimeric sequences. After Illumina-based correction of long PacBio reads, 6,599 error-corrected isoforms were identified. Transcriptome structural analysis revealed 2,263 and 2,555 alternative splicing (AS) events and alternative polyadenylation (APA) sites, respectively. In total, 620 novel genes (NGs), 197 putative transcription factors (TFs), and 291 novel long non-coding RNAs (lncRNAs) were identified.
    CONCLUSIONS: In summary, this study offers novel insights into the transcriptome complexity and diversity of this prawn species, and provides valuable information for understanding the genomic structure and improving the draft genome annotation of oriental river prawn.
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  • 文章类型: Journal Article
    儿童肥胖流行的规模及其对公共卫生的影响加速了对实际预防措施的追求。表观遗传学是一个有很多希望的学科,尽管相对较新。对不需要对基础DNA序列进行修饰的基因表达中的潜在可遗传变异的研究被称为表观遗传学。这里,我们使用Illumina甲基化EPICBeadChipArray在正常体重(NW)和超重/肥胖(OW/OB)儿童之间以及在欧美(EA)和非洲裔(AA)儿童之间从唾液中分离出的DNA中鉴定差异甲基化区域.在NW和OW/OB儿童之间,共有3133个靶ID(与2313个基因相关)差异甲基化(p<0.05)。在OW/OB子项中,与NW相比,792个目标ID被高甲基化,2341个目标ID被低甲基化。同样,在EA和AA种族群体中,与EA参与者相比,在AA中,共有1239个对应于739个基因的靶ID显著差异甲基化,其中643个靶ID高甲基化,596个低甲基化.伴随着这个,这项研究发现了可能有助于儿童肥胖表观遗传调控的新基因。
    The magnitude of the childhood obesity epidemic and its effects on public health has accelerated the pursuit of practical preventative measures. Epigenetics is one subject that holds a lot of promise, despite being relatively new. The study of potentially heritable variations in gene expression that do not require modifications to the underlying DNA sequence is known as epigenetics. Here, we used Illumina MethylationEPIC BeadChip Array to identify differentially methylated regions in DNA isolated from saliva between normal weight (NW) and overweight/obese (OW/OB) children and between European American (EA) and African American (AA) children. A total of 3133 target IDs (associated with 2313 genes) were differentially methylated (p < 0.05) between NW and OW/OB children. In OW/OB children, 792 target IDs were hypermethylated and 2341 were hypomethylated compared to NW. Similarly, in the racial groups EA and AA, a total of 1239 target IDs corresponding to 739 genes were significantly differentially methylated in which 643 target IDs were hypermethylated and 596 were hypomethylated in the AA compared to EA participants. Along with this, the study identified novel genes that could contribute to the epigenetic regulation of childhood obesity.
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