Novel genes

新基因
  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    新的蛋白质编码基因可以通过称为从头基因出现的过程从先前的非编码基因组区域进化。有证据表明,这个过程很可能在整个进化过程中和整个生命树之间发生。然而,自信地识别从头出现的基因仍然具有挑战性。祖先序列重建(ASR)是推断基因是否从头出现的一种有前途的方法,因为它可以使我们检查给定的基因组基因座是否具有祖先的蛋白质编码能力。然而,在从头出现的背景下使用ASR仍处于起步阶段,局限性,总体潜力在很大程度上是未知的。值得注意的是,很难正式评估祖先序列的蛋白质编码能力,特别是当新的候选基因很短的时候。ASR作为检测和研究从头基因的工具有多合适?在这里,我们通过设计包含不同工具和参数集的ASR工作流程,并通过引入允许估计的正式标准来解决这个问题,在理想的信心水平内,当蛋白质编码能力起源于特定基因座时。将此工作流程应用于2,600短,注释出芽酵母基因(<1,000个核苷酸),我们发现ASR有力地预测了最广泛保守基因的古老起源,这构成了“简单”的案例。对于不太稳健的情况,我们计算了一个基于随机化的经验P值,估计观察到的现存阅读框和祖先阅读框之间的保守性是否可以归因于偶然性.这个正式的标准使我们能够为大多数不太可靠的案例确定一个起源分支,鉴定了自酵母属分裂以来可以明确认为从头起源的49个基因,包括37个酿酒酵母特异性基因。我们发现,对于其余的模棱两可的情况,我们不能排除不同的进化场景,包括快速进化和多重损失,或最近的从头起源。总的来说,我们的研究结果表明,ASR是研究从头基因出现的一个有价值的工具,但应谨慎应用,并意识到其局限性.
    New protein-coding genes can evolve from previously noncoding genomic regions through a process known as de novo gene emergence. Evidence suggests that this process has likely occurred throughout evolution and across the tree of life. Yet, confidently identifying de novo emerged genes remains challenging. Ancestral sequence reconstruction is a promising approach for inferring whether a gene has emerged de novo or not, as it allows us to inspect whether a given genomic locus ancestrally harbored protein-coding capacity. However, the use of ancestral sequence reconstruction in the context of de novo emergence is still in its infancy and its capabilities, limitations, and overall potential are largely unknown. Notably, it is difficult to formally evaluate the protein-coding capacity of ancestral sequences, particularly when new gene candidates are short. How well-suited is ancestral sequence reconstruction as a tool for the detection and study of de novo genes? Here, we address this question by designing an ancestral sequence reconstruction workflow incorporating different tools and sets of parameters and by introducing a formal criterion that allows to estimate, within a desired level of confidence, when protein-coding capacity originated at a particular locus. Applying this workflow on ∼2,600 short, annotated budding yeast genes (<1,000 nucleotides), we found that ancestral sequence reconstruction robustly predicts an ancient origin for the most widely conserved genes, which constitute \"easy\" cases. For less robust cases, we calculated a randomization-based empirical P-value estimating whether the observed conservation between the extant and ancestral reading frame could be attributed to chance. This formal criterion allowed us to pinpoint a branch of origin for most of the less robust cases, identifying 49 genes that can unequivocally be considered de novo originated since the split of the Saccharomyces genus, including 37 Saccharomyces cerevisiae-specific genes. We find that for the remaining equivocal cases we cannot rule out different evolutionary scenarios including rapid evolution, multiple gene losses, or a recent de novo origin. Overall, our findings suggest that ancestral sequence reconstruction is a valuable tool to study de novo gene emergence but should be applied with caution and awareness of its limitations.
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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
    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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  • 文章类型: Journal Article
    背景:基因组复杂性是一个不断发展的进化领域,在模型和新兴的非模型系统中进行比较进化分析的案例研究。了解基因组的复杂性和功能成分是探索成熟的尚未开发的知识财富。由于基因组大小和复杂性之间“明显缺乏对应关系”,需要有一种方法来量化跨生物体的复杂性。在这项研究中,我们使用一组复杂性指标,允许使用TranD评估复杂性的变化。
    结果:我们确定复杂性是在转录组之间增加还是减少,以及在什么结构水平上,随着复杂性的变化。在这项研究中,我们定义了三个指标-TpG,EpT,和EpG-来量化转录组的复杂性,它封装了可变剪接的动力学。在这里,我们比较了1)全基因组注释的复杂性指标,2)直系同源物的过滤子集,和3)新基因,以阐明直向同源物和新基因在转录本模型分析中的影响。发布的有效外显子数(EEN),以比较转录本内外显子大小的分布与外显子均匀放置的随机预期。EEN解释了外显子大小的差异,这很重要,因为直系同源物和全转录组分析的新基因在复杂性上的差异偏向于具有很少外显子和很少替代转录本的低复杂性基因。
    结论:通过我们的度量分析,我们能够量化不同谱系之间的复杂性变化,其精确度和准确度高于以往在直系条件下的跨物种比较.这些分析代表了非模型进化基因组学新兴领域向全转录组分析迈出的一步,具有关键的见解,可以对生命树中深层时间尺度上的复杂性变化进行进化推断。我们建议一种方法来量化直系同源调用中产生的偏见,并纠正针对谱系特异性影响的复杂性分析。有了这些指标,我们直接测定新形成的谱系特异性基因的定量特性,因为它们降低了复杂性。
    BACKGROUND: Genomic complexity is a growing field of evolution, with case studies for comparative evolutionary analyses in model and emerging non-model systems. Understanding complexity and the functional components of the genome is an untapped wealth of knowledge ripe for exploration. With the \"remarkable lack of correspondence\" between genome size and complexity, there needs to be a way to quantify complexity across organisms. In this study, we use a set of complexity metrics that allow for evaluating changes in complexity using TranD.
    RESULTS: We ascertain if complexity is increasing or decreasing across transcriptomes and at what structural level, as complexity varies. In this study, we define three metrics - TpG, EpT, and EpG- to quantify the transcriptome\'s complexity that encapsulates the dynamics of alternative splicing. Here we compare complexity metrics across 1) whole genome annotations, 2) a filtered subset of orthologs, and 3) novel genes to elucidate the impacts of orthologs and novel genes in transcript model analysis. Effective Exon Number (EEN) issued to compare the distribution of exon sizes within transcripts against random expectations of uniform exon placement. EEN accounts for differences in exon size, which is important because novel gene differences in complexity for orthologs and whole-transcriptome analyses are biased towards low-complexity genes with few exons and few alternative transcripts.
    CONCLUSIONS: With our metric analyses, we are able to quantify changes in complexity across diverse lineages with greater precision and accuracy than previous cross-species comparisons under ortholog conditioning. These analyses represent a step toward whole-transcriptome analysis in the emerging field of non-model evolutionary genomics, with key insights for evolutionary inference of complexity changes on deep timescales across the tree of life. We suggest a means to quantify biases generated in ortholog calling and correct complexity analysis for lineage-specific effects. With these metrics, we directly assay the quantitative properties of newly formed lineage-specific genes as they lower complexity.
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  • 文章类型: Journal Article
    UNASSIGNED: Sugarcane (Saccharum spontaneum L.), the major sugar and biofuel feedstock crop, is cultivated mainly by vegetative propagation worldwide due to the infertility of female reproductive organs resulting in the reduction of quality and output of sugar. Deciphering the gene expression profile during ovule development will improve our understanding of the complications underlying sexual reproduction in sugarcane. Optimal reference genes are essential for elucidating the expression pattern of a given gene by quantitative real-time PCR (qRT-PCR).
    UNASSIGNED: In this study, based on transcriptome data obtained from sugarcane ovule, eighteen candidate reference genes were identified, cloned, and their expression levels were evaluated across five developmental stages ovule (AC, MMC, Meiosis, Mitosis, and Mature).
    UNASSIGNED: Our results indicated that FAB2 and MOR1 were the most stably expressed genes during sugarcane female gametophyte development. Moreover, two genes, cell cycle-related genes REC8 and CDK, were selected, and their feasibility was validated. This study provides important insights into the female gametophyte development of sugarcane and reports novel reference genes for gene expression research on sugarcane sexual reproduction.
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  • 文章类型: Journal Article
    Identification of novel genes and their functions in rice is a critical step to improve economic traits. Agrobacterium tumefaciens-mediated transformation is a proven method in many laboratories and widely adopted for genetic engineering in rice. However, the efficiency of gene transfer by Agrobacterium in rice is low, particularly among japonica and indica varieties. In this protocol, we elucidate a rapid and highly efficient protocol to transform and regenerate transgenic rice plants through important key features of Agrobacterium transformation and standard regeneration media, especially enhancing culture conditions, timing, and growth hormones. With this protocol, transformed plantlets from the embryogenetic callus of the japonica cultivar \'Taichung 65\' may be obtained within 90 days. This protocol may be used with other japonica rice varieties.
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