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Host species and pathogenicity effects in the evolution of the mitochondrial genomes of Eimeria species (Apicomplexa; Coccidia; Eimeriidae). 艾美耳球虫线粒体基因组进化中的寄主物种及其致病性效应Coccidia;艾美虫科)。
IF 3.3 3区 生物学 Q1 Agricultural and Biological Sciences Pub Date : 2017-12-21 eCollection Date: 2017-12-01 DOI: 10.1186/s40709-017-0070-2
Asma Awadi

Background: Mitochondria are fundamental organelles responsible for cellular metabolism and energy production in eukaryotes via the oxidative phosphorylation pathway. Mitochondrial DNA is often used in population and species studies with the assumption of neutral evolution. However, evidence of positive selection in mitochondrial coding genes of various animal species has accumulated suggesting that amino acid changes in mtDNA might be adaptive. The functional and physiological implications of the inferred positively selected sites are usually unknown and are only evaluated based on available structural and functional models. Such studies are absent in unicellular organisms that show several crucial differences to the electron transport chain of animal mitochondria. In the present study, we explored Eimeria mitogenomes for positive selection. We also tested for association between mtDNA polymorphism and environmental variation (i.e. host species), parasite life cycle (i.e. sporulation period), and efficient host cell invasion (i.e. pathogenicity, prepatent period).

Findings: We used site- and branch-site tests to estimate the extent of purifying and positive selection at each site and each lineage of several Eimeria parasite mitogenomes retrieved from GenBank. We founded sixteen codons in the three mtDNA-encoded proteins to be under positive selection compared to a strong purifying selection. Variation in the ratios of non-synonymous to synonymous changes of the studied parasites was associated with their different host species (F = 13.748; p < 0.001), whereas pathogenicity levels were associated with both synonymous and non-synonymous changes. This association was also confirmed by the multiple regression analysis.

Conclusions: Our results suggest that host species and pathogenicity are important factors that might shape mitochondrial variation in Eimeria parasites. This supports the important role of mtDNA variations in the evolution and adaptation of these parasites.

背景:线粒体是真核生物通过氧化磷酸化途径进行细胞代谢和能量产生的基本细胞器。线粒体DNA常用于种群和物种研究,假设为中性进化。然而,各种动物线粒体编码基因正选择的证据越来越多,表明线粒体dna的氨基酸变化可能是适应性的。推断的阳性选择位点的功能和生理意义通常是未知的,只能根据现有的结构和功能模型进行评估。这样的研究在单细胞生物中是不存在的,它显示了动物线粒体的电子传递链的几个关键差异。在本研究中,我们探索了艾美粒有丝粒基因组的正选择。我们还测试了mtDNA多态性与环境变化(即宿主物种)、寄生虫生命周期(即产孢期)和有效的宿主细胞入侵(即致病性,专利前期)之间的关系。研究结果:我们使用位点和分支位点测试来估计从GenBank检索到的几个艾美耳虫有丝分裂基因组的每个位点和每个谱系的纯化和阳性选择程度。我们发现在三个mtdna编码的蛋白中有16个密码子处于正向选择,而不是强纯化选择。不同寄主种类对不同种类寄生虫的非同义与同义比值变化有显著影响(F = 13.748;结论:我们的研究结果表明,宿主种类和致病性可能是影响艾美耳球虫线粒体变异的重要因素。这支持了mtDNA变异在这些寄生虫的进化和适应中的重要作用。
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引用次数: 3
AFLP reveals low genetic diversity of the bryozoan Pectinatella magnifica (Leidy, 1851) in the Czech Republic. AFLP揭示了捷克共和国苔藓虫Pectinatella magnifica (Leidy, 1851)的低遗传多样性。
IF 3.3 3区 生物学 Q1 Agricultural and Biological Sciences Pub Date : 2017-11-25 eCollection Date: 2017-12-01 DOI: 10.1186/s40709-017-0069-8
Vendula Moravcová, Jana Moravcová, Vladislav Čurn, Zuzana Balounová, Josef Rajchard, Lenka Havlíčková

Background: Non-native species have aroused scientific interest because of their ability to successfully colonise areas to which they have been introduced, despite their sometimes limited genetic variation compared to their native range. These species establish themselves with the aid of some pre-existing features favouring them in the new environment. Pectinatella magnifica (Leidy, 1851), the freshwater magnificent bryozoan, is non-native in Europe and Asia. This study was designed to determine the genetic diversity and population structure of P. magnifica colonies collected from the Protected Landscape Area (PLA) and UNESCO Biosphere Reserve Třeboňsko (the Czech Republic) in the 2009 and 2011-2014 periods using Amplified Fragment Length Polymorphism (AFLP).

Findings: The vast majority of the examined non-native colonies, except three colonies sampled in 2012, expressed very low levels of genetic variation, not differentiating from the USA native colony. The Bayesian clustering approach grouped the 28 accessions into two genetically different populations.

Conclusions: The data suggest relatively low gene diversity within all colonies, which might reflect the recent expansion of P. magnifica in the Czech Republic.

背景:非本地物种已经引起了科学界的兴趣,因为它们能够成功地在它们被引入的地区定居,尽管它们的遗传变异有时与它们的本地范围相比有限。这些物种借助一些先前存在的特征在新环境中站稳脚跟。Pectinatella magnifica (Leidy, 1851)是一种淡水苔藓虫,产于欧洲和亚洲。本研究采用扩增片段长度多态性(AFLP)分析了2009年和2011-2014年在捷克景观保护区(PLA)和联合国教科文组织生物圈保护区Třeboňsko采集的凤尾花(P. magnifica)群落的遗传多样性和种群结构。发现:除了2012年取样的3个菌落外,绝大多数检测的非本地菌落表达了非常低水平的遗传变异,与美国本土菌落没有区别。贝叶斯聚类方法将28个品种分成两个遗传上不同的种群。结论:所有群体的基因多样性相对较低,这可能反映了近年来黄花黄花在捷克共和国的扩张。
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引用次数: 1
Evaluation of a simple method for storage of blood samples that enables isolation of circulating tumor cells 96 h after sample collection. 评估一种简单的血液样本储存方法,该方法能够在样本收集后96小时分离循环肿瘤细胞。
IF 3.3 3区 生物学 Q1 Agricultural and Biological Sciences Pub Date : 2017-09-25 eCollection Date: 2017-12-01 DOI: 10.1186/s40709-017-0068-9
Panagiotis Apostolou, Dimitrios-Athanasios Ntanovasilis, Ioannis Papasotiriou

Background: Minimizing the effects of transportation on the properties of biological material is a major challenge for the scientific community. The viability of cells is important in cases where their study is urgent for evaluation of treatment response or for the study of cancer progression. Circulating tumor cells (CTCs) constitute a cell subpopulation with great importance for oncologists, because of their prognostic value. Detection and isolation of CTCs from blood samples is a routine activity in many laboratories, but concerns exist with regard to the maintenance of the cells during transportation. In this study, experiments were conducted to determine the stability of gene and protein expression in CTCs over a period of 96 h.

Results: Blood samples collected from healthy individuals and patients with cancer were each divided into five aliquots, which were stored at 2-8 °C and analyzed after 0, 24, 48, 72 and 96 h of storage. CTCs from patients and CD45-negative cells from healthy individuals were isolated each day using enrichment protocols, and qPCR was performed to determine expression levels of genes encoding specific biological markers. In addition, cells from breast and colon cancer cell lines were spiked into blood samples from healthy individuals, and these samples were stored and analyzed over a period of 96 h by PCR and by flow cytometry. The markers that were studied included housekeeping genes and genes associated with the response to chemotherapy, as well as genes encoding transcription factors. The results demonstrated that the expression profiles of specific genes and proteins in CTCs were not significantly affected by 72 h of storage. After 96 h of storage, expression of some genes was altered.

Conclusion: The transportation of blood at low temperature (2-8 °C) in the presence of the anticoagulant EDTA can protect CTCs from alteration of gene and protein expression for at least 72 h. Furthermore, under these conditions, CTCs can be detected and isolated 96 h after blood collection.

背景:最大限度地减少运输对生物材料性能的影响是科学界面临的主要挑战。在对治疗反应的评估或癌症进展的研究中,细胞的活力是很重要的。循环肿瘤细胞(CTCs)由于其预后价值,对肿瘤学家来说是一个非常重要的细胞亚群。从血液样本中检测和分离ctc是许多实验室的常规工作,但在运输过程中细胞的维护方面存在问题。在本研究中,通过实验确定了96 h内ctc中基因和蛋白表达的稳定性。结果:将健康个体和癌症患者的血液样本分成5份,分别在2-8°C下保存,分别在0、24、48、72和96 h后进行分析。每天使用富集方案分离来自患者的ctc和来自健康个体的cd45阴性细胞,并进行qPCR以确定编码特定生物标记的基因的表达水平。此外,将乳腺癌和结肠癌细胞系的细胞加入健康个体的血液样本中,通过PCR和流式细胞术将这些样本保存并分析96小时。研究的标记包括管家基因和与化疗反应相关的基因,以及编码转录因子的基因。结果表明,贮藏72 h后,CTCs中特定基因和蛋白的表达谱未受显著影响。贮藏96 h后,部分基因表达发生改变。结论:在抗凝EDTA存在的低温(2-8℃)血液运输条件下,ctc基因和蛋白表达的改变至少可保护72 h,且在此条件下,ctc可在采血96 h后被检测和分离。
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引用次数: 12
MicroRNA-454 may function as an oncogene via targeting AKT in triple negative breast cancer. MicroRNA-454可能通过靶向AKT在三阴性乳腺癌中起癌基因作用。
IF 3.3 3区 生物学 Q1 Agricultural and Biological Sciences Pub Date : 2017-08-03 eCollection Date: 2017-12-01 DOI: 10.1186/s40709-017-0067-x
Qun Li, Jia Liu, Xianying Meng, Renzhu Pang, Jie Li

Background: Altered microRNAs expression mediates tumor development and progression in many type cancers including triple negative breast cancer (TNBC). Here we detected the effect of miR-454 on cell proliferation, migration and invasion of triple negative breast cancer cells.

Results: miR-454 promoted the proliferation of TNBC, and enhanced migration and invasion in TNBC cells. Meanwhile, miR-454 improved the survival of TNBC cells after ironizing radiation. miR-454 inhibited radiation-induced apoptosis in TNBC cells by regulation of caspase 3/7 and Bcl-2 expression. Furthermore, PTEN and pAKT levels in TNBC cells were changed after overexpression of miR-454.

Conclusions: miR-454 played an essential role in tumor development and progression in TNBC, and might be used as a potential biomarker to predict radiotherapy response and prognosis in TNBC.

背景:在包括三阴性乳腺癌(TNBC)在内的许多类型的癌症中,microRNAs表达改变介导肿瘤的发生和进展。我们检测了miR-454对三阴性乳腺癌细胞增殖、迁移和侵袭的影响。结果:miR-454促进TNBC细胞增殖,增强TNBC细胞的迁移和侵袭能力。同时,miR-454提高了TNBC细胞在铁化辐射后的存活率。miR-454通过调节caspase 3/7和Bcl-2的表达抑制辐射诱导的TNBC细胞凋亡。此外,过表达miR-454后,TNBC细胞中的PTEN和pAKT水平发生了变化。结论:miR-454在TNBC的肿瘤发生发展中发挥了重要作用,可能作为一种潜在的生物标志物来预测TNBC的放疗反应和预后。
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引用次数: 26
Bone marker gene expression in calvarial bones: different bone microenvironments. 骨标记基因在颅骨中的表达:不同的骨微环境。
IF 3.3 3区 生物学 Q1 Agricultural and Biological Sciences Pub Date : 2017-05-16 eCollection Date: 2017-12-01 DOI: 10.1186/s40709-017-0066-y
Osama Al-Amer

Background: In calvarial mice, mesenchymal stem cells (MSCs) differentiate into osteoprogenitor cells and then differentiate into osteoblasts that differentiate into osteocytes, which become embedded within the bone matrix. In this case, the cells participating in bone formation include MSCs, osteoprogenitor cells, osteoblasts and osteocytes. The calvariae of C57BL/KaLwRijHsD mice consist of the following five bones: two frontal bones, two parietal bones and one interparietal bone. This study aimed to analyse some bone marker genes and bone related genes to determine whether these calvarial bones have different bone microenvironments.

Methods: C57BL/KaLwRijHsD calvariae were carefully excised from five male mice that were 4-6 weeks of age. Frontal, parietal, and interparietal bones were dissected to determine the bone microenvironment in calvariae. Haematoxylin and eosin staining was used to determine the morphology of different calvarial bones under microscopy. TaqMan was used to analyse the relative expression of Runx2, OC, OSX, RANK, RANKL, OPG, N-cadherin, E-cadherin, FGF2 and FGFR1 genes in different parts of the calvariae.

Results: Histological analysis demonstrated different bone marrow (BM) areas between the different parts of the calvariae. The data show that parietal bones have the smallest BM area compared to frontal and interparietal bones. TaqMan data show a significant increase in the expression level of Runx2, OC, OSX, RANKL, OPG, FGF2 and FGFR1 genes in the parietal bones compared with the frontal and interparietal bones of calvariae.

Conclusion: This study provides evidence that different calvarial bones, frontal, parietal and interparietal, contain different bone microenvironments.

背景:在颅骨小鼠中,间充质干细胞(MSCs)分化为骨祖细胞,然后分化为成骨细胞,成骨细胞分化为骨细胞,骨细胞嵌入骨基质中。在这种情况下,参与骨形成的细胞包括MSCs、骨祖细胞、成骨细胞和骨细胞。C57BL/KaLwRijHsD小鼠颅骨由5块骨组成:2块额骨、2块顶骨和1块顶骨。本研究旨在分析一些骨标记基因和骨相关基因,以确定这些颅骨是否具有不同的骨微环境。方法:取5只4 ~ 6周龄雄性小鼠,仔细切除C57BL/KaLwRijHsD颅骨。解剖额骨、顶骨和顶骨间骨以确定颅骨内的骨微环境。用血红素和伊红染色在显微镜下测定不同颅骨的形态。应用TaqMan分析Runx2、OC、OSX、RANK、RANKL、OPG、N-cadherin、E-cadherin、FGF2、FGFR1基因在颅骨不同部位的相对表达量。结果:组织学分析显示颅骨不同部位间存在不同的骨髓区。数据显示,与额骨和顶骨相比,顶骨的BM面积最小。TaqMan数据显示,与颅骨额骨和顶骨相比,Runx2、OC、OSX、RANKL、OPG、FGF2和FGFR1基因在顶骨中的表达水平显著升高。结论:本研究证明不同的颅骨,额骨、顶骨和顶骨间含有不同的骨微环境。
{"title":"Bone marker gene expression in calvarial bones: different bone microenvironments.","authors":"Osama Al-Amer","doi":"10.1186/s40709-017-0066-y","DOIUrl":"https://doi.org/10.1186/s40709-017-0066-y","url":null,"abstract":"<p><strong>Background: </strong>In calvarial mice, mesenchymal stem cells (MSCs) differentiate into osteoprogenitor cells and then differentiate into osteoblasts that differentiate into osteocytes, which become embedded within the bone matrix. In this case, the cells participating in bone formation include MSCs, osteoprogenitor cells, osteoblasts and osteocytes. The calvariae of C57BL/KaLwRijHsD mice consist of the following five bones: two frontal bones, two parietal bones and one interparietal bone. This study aimed to analyse some bone marker genes and bone related genes to determine whether these calvarial bones have different bone microenvironments.</p><p><strong>Methods: </strong>C57BL/KaLwRijHsD calvariae were carefully excised from five male mice that were 4-6 weeks of age. Frontal, parietal, and interparietal bones were dissected to determine the bone microenvironment in calvariae. Haematoxylin and eosin staining was used to determine the morphology of different calvarial bones under microscopy. TaqMan was used to analyse the relative expression of Runx2, OC, OSX, RANK, RANKL, OPG, N-cadherin, E-cadherin, FGF2 and FGFR1 genes in different parts of the calvariae.</p><p><strong>Results: </strong>Histological analysis demonstrated different bone marrow (BM) areas between the different parts of the calvariae. The data show that parietal bones have the smallest BM area compared to frontal and interparietal bones. TaqMan data show a significant increase in the expression level of Runx2, OC, OSX, RANKL, OPG, FGF2 and FGFR1 genes in the parietal bones compared with the frontal and interparietal bones of calvariae.</p><p><strong>Conclusion: </strong>This study provides evidence that different calvarial bones, frontal, parietal and interparietal, contain different bone microenvironments.</p>","PeriodicalId":50251,"journal":{"name":"Journal of Biological Research-Thessaloniki","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2017-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40709-017-0066-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35009765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Two single nucleotide polymorphisms sites in α1-AT gene and their association with somatic cell score in Chinese Holstein cows. 中国荷斯坦奶牛α1-AT基因的两个单核苷酸多态性位点及其与体细胞评分的关系
IF 3.3 3区 生物学 Q1 Agricultural and Biological Sciences Pub Date : 2017-04-13 eCollection Date: 2017-12-01 DOI: 10.1186/s40709-017-0065-z
Xiao-Fei Guo, Wen-Ping Hu, Xian-Zheng Lang, Qiu-Ling Li, Xiang-Yu Wang, Ran Di, Qiu-Yue Liu, Xiao-Lin Liu, Yong-Fu An, Ming-Xing Chu

Background: Alpha 1-antitrypsin (α1-AT) may affect the susceptibility of mastitis in dairy cattle for its possible role in the protection of lactoferrin from proteolytic degradation in the mammary. Milk somatic cell score (SCS) is a logarithmic transformation of the milk somatic cell count widely used as an index to evaluate mastitis. To study the relationships of α1-AT gene and SCS in Chinese Holstein cows, methods of PCR-SSCP, DNA sequencing, PCR-RFLP, and CRS-PCR technologies were used to detect single nucleotide polymorphisms sites in α1-AT gene.

Results: Two polymorphic sites at G5503A and G5746C of α1-AT gene were found. AA (0.3633), AB (0.4644) and BB (0.1723) genotypes were detected at G5503A site, CC (0.3483), CD (0.4906) and DD (0.1611) genotypes were found at G5746C in Chinese Holstein cows. Least squares mean of SCS for individuals with BB genotype was significantly lower than that with AA and AB genotype (p < 0.01), and that with AB genotype was significantly lower than that with AA (p < 0.05). There was no significant difference among individuals with CC, CD and DD genotypes (p > 0.05). Least squares mean of SCS for individuals with BBDD genotype combination were significantly lower than those with AACC and AACD (p < 0.05).

Conclusions: Statistical analysis indicated that B allele and BBDD genotype combination of α1-AT can improve mastitis resistance in dairy cattle.

背景:α-1-抗胰蛋白酶(α1-AT)可能会影响奶牛对乳腺炎的易感性,因为它可能在保护乳铁蛋白免受乳腺蛋白分解方面发挥作用。牛奶体细胞评分(SCS)是牛奶体细胞数的对数变换,被广泛用作乳腺炎的评估指标。为研究中国荷斯坦奶牛α1-AT基因与SCS的关系,采用PCR-SSCP、DNA测序、PCR-RFLP和CRS-PCR技术检测α1-AT基因的单核苷酸多态性位点:结果:在α1-AT基因的G5503A和G5746C上发现了两个多态性位点。在中国荷斯坦奶牛的 G5503A 位点上检测到 AA(0.3633)、AB(0.4644)和 BB(0.1723)基因型,在 G5746C 位点上检测到 CC(0.3483)、CD(0.4906)和 DD(0.1611)基因型。BB 基因型个体的 SCS 最小二乘法平均值明显低于 AA 和 AB 基因型个体(p p p > 0.05)。BBDD基因型组合个体的SCS最小二乘法平均值明显低于AACC和AACD基因型组合个体(p 结论:BBDD基因型组合个体的SCS最小二乘法平均值明显低于AACC和AACD基因型组合个体(p):统计分析表明,α1-AT 的 B 等位基因和 BBDD 基因型组合可提高奶牛的乳腺炎抵抗力。
{"title":"Two single nucleotide polymorphisms sites in <i>α1</i>-<i>AT</i> gene and their association with somatic cell score in Chinese Holstein cows.","authors":"Xiao-Fei Guo, Wen-Ping Hu, Xian-Zheng Lang, Qiu-Ling Li, Xiang-Yu Wang, Ran Di, Qiu-Yue Liu, Xiao-Lin Liu, Yong-Fu An, Ming-Xing Chu","doi":"10.1186/s40709-017-0065-z","DOIUrl":"10.1186/s40709-017-0065-z","url":null,"abstract":"<p><strong>Background: </strong>Alpha 1-antitrypsin (α1-AT) may affect the susceptibility of mastitis in dairy cattle for its possible role in the protection of lactoferrin from proteolytic degradation in the mammary. Milk somatic cell score (SCS) is a logarithmic transformation of the milk somatic cell count widely used as an index to evaluate mastitis. To study the relationships of <i>α1</i>-<i>AT</i> gene and SCS in Chinese Holstein cows, methods of PCR-SSCP, DNA sequencing, PCR-RFLP, and CRS-PCR technologies were used to detect single nucleotide polymorphisms sites in <i>α1</i>-<i>AT</i> gene.</p><p><strong>Results: </strong>Two polymorphic sites at G5503A and G5746C of <i>α1</i>-<i>AT</i> gene were found. AA (0.3633), AB (0.4644) and BB (0.1723) genotypes were detected at G5503A site, CC (0.3483), CD (0.4906) and DD (0.1611) genotypes were found at G5746C in Chinese Holstein cows. Least squares mean of SCS for individuals with BB genotype was significantly lower than that with AA and AB genotype (<i>p</i> < 0.01), and that with AB genotype was significantly lower than that with AA (<i>p</i> < 0.05). There was no significant difference among individuals with CC, CD and DD genotypes (<i>p</i> > 0.05). Least squares mean of SCS for individuals with BBDD genotype combination were significantly lower than those with AACC and AACD (<i>p</i> < 0.05).</p><p><strong>Conclusions: </strong>Statistical analysis indicated that B allele and BBDD genotype combination of α1-AT can improve mastitis resistance in dairy cattle.</p>","PeriodicalId":50251,"journal":{"name":"Journal of Biological Research-Thessaloniki","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2017-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34917035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A survey of methods and tools to detect recent and strong positive selection. 对检测近期强阳性选择的方法和工具的调查。
IF 3.3 3区 生物学 Q1 Agricultural and Biological Sciences Pub Date : 2017-04-08 eCollection Date: 2017-12-01 DOI: 10.1186/s40709-017-0064-0
Pavlos Pavlidis, Nikolaos Alachiotis

Positive selection occurs when an allele is favored by natural selection. The frequency of the favored allele increases in the population and due to genetic hitchhiking the neighboring linked variation diminishes, creating so-called selective sweeps. Detecting traces of positive selection in genomes is achieved by searching for signatures introduced by selective sweeps, such as regions of reduced variation, a specific shift of the site frequency spectrum, and particular LD patterns in the region. A variety of methods and tools can be used for detecting sweeps, ranging from simple implementations that compute summary statistics such as Tajima's D, to more advanced statistical approaches that use combinations of statistics, maximum likelihood, machine learning etc. In this survey, we present and discuss summary statistics and software tools, and classify them based on the selective sweep signature they detect, i.e., SFS-based vs. LD-based, as well as their capacity to analyze whole genomes or just subgenomic regions. Additionally, we summarize the results of comparisons among four open-source software releases (SweeD, SweepFinder, SweepFinder2, and OmegaPlus) regarding sensitivity, specificity, and execution times. In equilibrium neutral models or mild bottlenecks, both SFS- and LD-based methods are able to detect selective sweeps accurately. Methods and tools that rely on LD exhibit higher true positive rates than SFS-based ones under the model of a single sweep or recurrent hitchhiking. However, their false positive rate is elevated when a misspecified demographic model is used to represent the null hypothesis. When the correct (or similar to the correct) demographic model is used instead, the false positive rates are considerably reduced. The accuracy of detecting the true target of selection is decreased in bottleneck scenarios. In terms of execution time, LD-based methods are typically faster than SFS-based methods, due to the nature of required arithmetic.

当一个等位基因受到自然选择的青睐时,就会出现正选择。受青睐的等位基因在人群中出现的频率增加,由于基因搭便车,邻近的相关变异减少,产生了所谓的选择性扫描。检测基因组中正选择的痕迹是通过搜索选择性扫描引入的特征来实现的,例如变异减少的区域,位点频谱的特定移位,以及该区域的特定LD模式。各种方法和工具可用于检测扫描,从计算汇总统计的简单实现,如田岛D,到使用统计、最大似然、机器学习等组合的更高级的统计方法。在这项调查中,我们提出并讨论了汇总统计和软件工具,并根据它们检测到的选择性扫描特征对它们进行分类,即基于sfs的与基于ld的,以及它们分析全基因组或亚基因组区域的能力。此外,我们总结了四个开源软件版本(SweeD、SweepFinder、SweepFinder2和OmegaPlus)在灵敏度、特异性和执行时间方面的比较结果。在平衡中性模型或轻度瓶颈中,基于SFS和基于ld的方法都能够准确地检测选择性扫描。在单次扫描或反复搭便车模式下,依赖于LD的方法和工具比基于sfs的方法和工具显示出更高的真阳性率。然而,当使用错误指定的人口统计学模型来表示原假设时,他们的假阳性率会升高。当使用正确的(或类似于正确的)人口统计模型时,假阳性率大大降低。在瓶颈情况下,检测选择真实目标的准确性降低。在执行时间方面,基于ld的方法通常比基于sfs的方法快,这是由于所需算法的性质。
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引用次数: 87
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence. 长QT综合征引起的婴儿猝死综合征:遗传底物和流行的简要回顾。
IF 3.3 3区 生物学 Q1 Agricultural and Biological Sciences Pub Date : 2017-03-14 eCollection Date: 2017-12-01 DOI: 10.1186/s40709-017-0063-1
Nikolaos S Ioakeimidis, Theodora Papamitsou, Soultana Meditskou, Zafiroula Iakovidou-Kritsi

The pathophysiological mechanisms which lead to sudden infant death syndrome (SIDS) are not completely understood. Cardiac channelopathies are a well-established causative factor with long QT syndrome (LQTS) being the most frequent one, accounting for approximately 12% of SIDS cases. The genetic substrate of the above arrhythmogenic syndrome has been thoroughly described but only specific gene mutations or polymorphisms have been identified as SIDS causative. The review will focus on the prevalence of LQTS-induced SIDS or near-SIDS cases and the mutations held responsible. A literature search was performed in PubMed and Scopus electronic databases. Search terms used were: long QT syndrome, channelopathies, QT prolongation, cardiac ion channels. The above-mentioned search terms were always combined with the term: sudden infant death syndrome. Study types considered eligible were: case-control, family pedigree analysis, case reports. The prevalence of LQTS-induced SIDS according to six broad genetic studies ranges from 3.9 to 20.6%, with an average of 12%. Since LQTS can be effectively managed, LQTS-related SIDS cases could be prevented, provided that a screening method is efficient enough to detect all the affected infants.

导致婴儿猝死综合征(SIDS)的病理生理机制尚未完全了解。心脏通道病变是一个公认的病因,其中长QT综合征(LQTS)是最常见的病因,约占SIDS病例的12%。上述心律失常综合征的遗传底物已被彻底描述,但只有特定的基因突变或多态性被确定为SIDS的病因。此次审查将重点关注lqts诱发的小岛屿发展中国家或近小岛屿发展中国家病例的流行情况以及导致这些病例的突变。在PubMed和Scopus电子数据库中进行文献检索。使用的搜索词是:长QT综合征,通道病变,QT延长,心脏离子通道。上述搜索词总是与“婴儿猝死综合症”这个词结合在一起。符合条件的研究类型包括:病例对照、家庭谱系分析、病例报告。根据六项广泛的遗传研究,lqts诱发的小岛屿发展中国家的患病率在3.9%至20.6%之间,平均为12%。由于LQTS可以得到有效的管理,如果一种筛查方法足够有效,可以发现所有受影响的婴儿,那么LQTS相关的小岛屿发展中国家病例是可以预防的。
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引用次数: 15
Protective role of hesperidin against γ-radiation-induced oxidative stress and apoptosis in rat testis. 橙皮苷对γ辐射诱导的大鼠睾丸氧化应激和细胞凋亡的保护作用。
IF 3.3 3区 生物学 Q1 Agricultural and Biological Sciences Pub Date : 2017-03-01 eCollection Date: 2017-12-01 DOI: 10.1186/s40709-017-0059-x
Nadia Z Shaban, Ahmed M Ahmed Zahran, Fatma H El-Rashidy, Ahmad S Abdo Kodous

Background: Gamma (γ) ray, an electromagnetic radiation, is occasionally accompanying the emission of an alpha or beta particle. Exposure to such radiation can cause cellular changes such as mutations, chromosome aberration and cellular damage which depend upon the total amount of energy, duration of exposure and the dose. Ionizing radiation can impair spermatogenesis and can cause mutations in germ cells. In general, type B spermatogonia are sensitive to this type of radiation. The current study was carried out to evaluate the protective role of hesperidin (H), as a polyphenolic compound, on rat testis injury induced by γ-radiation.

Methods: Rats were divided into groups including C group (control rats), R (irradiated) group (rats irradiated with γ-radiation), Vehicle (V) group (rats administered with dimethylsulfoxide "DMSO"), H group (rats administered with H only), HR and RH groups (rats treated with H before and after exposure to γ-radiation, respectively). Malondialdehyde (MDA: the end product of lipid peroxidation "LPO") and xanthine oxidase (XO: it generates reactive oxygen species "ROS") in testes homogenate as well as nitric oxide (NO: as ROS) in mitochondrial matrix were determined. The apoptotic markers including DNA-fragmentation (DNAF) in testes homogenate and calcium ions (Ca2+) in mitochondrial matrix were determined. Superoxide dismutase (SOD) and catalase (CAT) activities in testes homogenate, while reduced glutathione "GSH" in nuclear matrix were determined. Also histopathological examination for testes tissues through electron microscope was studied.

Results: Exposure of rats to γ-radiation (R group) increased the levels of MDA, NO, DNAF, Ca2+ and XO activity, while it decreased GSH level, SOD and CAT activities as compared to the C groups; γ-radiation increased oxidative stress (OS), LPO, apoptosis and induced testes injuries. These results are in agreement with the histopathological examination. In contrast, treatment with H before or after exposure to γ-radiation (HR and RH groups, respectively) decreased the levels of MDA, NO, DNAF and Ca2+ but increased GSH level and the activities of SOD, CAT and XO as compared to R group and this indicates that H decreased OS, LPO and apoptosis. Also, the histopathological results showed that H improved testis architecture and this is related to the antioxidant and anti-apoptotic activities of H contents. Protection is more effective when H is given before rather than after exposure. Finally, administration of H to healthy rats for a short period had no adverse affect on testes cells.

Conclusion: Hesperidin showed antioxidant and anti-apoptotic activities. It has a protective role against OS, injury and apoptosis induced by γ-radiation in testes. Protection is more effective when H is given before rather than after exposure.Graphical Abstract.

背景:伽马(γ)射线,一种电磁辐射,偶尔伴随着α或β粒子的发射。暴露在这种辐射下可引起细胞变化,如突变、染色体畸变和细胞损伤,这取决于能量总量、暴露时间和剂量。电离辐射会损害精子的发生,并引起生殖细胞的突变。一般来说,B型精原细胞对这种类型的辐射敏感。本研究旨在探讨橙皮苷(H)作为一种多酚类化合物对γ辐射致大鼠睾丸损伤的保护作用。方法:将大鼠分为C组(对照大鼠)、R组(辐照大鼠)、Vehicle (V)组(二甲基亚砜(DMSO)大鼠)、H组(只给H大鼠)、HR组和RH组(分别在辐照前和辐照后给H大鼠)。测定睾丸匀浆中的丙二醛(MDA:脂质过氧化的最终产物“LPO”)和黄嘌呤氧化酶(XO:产生活性氧“ROS”)以及线粒体基质中的一氧化氮(NO:作为ROS)。检测睾丸匀浆中dna片段化(DNAF)和线粒体基质中钙离子(Ca2+)等凋亡标志物。测定睾丸匀浆中超氧化物歧化酶(SOD)和过氧化氢酶(CAT)的活性,以及核基质中还原性谷胱甘肽(GSH)的活性。并对睾丸组织进行了电镜病理检查。结果:与C组相比,γ-辐射(R组)使大鼠MDA、NO、DNAF、Ca2+和XO活性升高,GSH水平、SOD和CAT活性降低;γ-辐射增加了氧化应激(OS)、LPO、细胞凋亡和诱导的睾丸损伤。这些结果与组织病理学检查一致。相比之下,与R组相比,辐照前后(HR组和RH组)H处理降低了MDA、NO、DNAF和Ca2+水平,升高了GSH水平和SOD、CAT和XO活性,表明H降低了OS、LPO和凋亡。同时,组织病理学结果表明,H改善了睾丸结构,这与H含量的抗氧化和抗凋亡活性有关。在暴露前注射H比在暴露后注射H更有效。最后,健康大鼠短期注射H对睾丸细胞无不良影响。结论:橙皮苷具有抗氧化和抗凋亡活性。对γ辐射引起的睾丸OS、损伤和凋亡具有保护作用。在暴露前注射H比在暴露后注射H更有效。图形抽象。
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引用次数: 67
The Aegean archipelago: a natural laboratory of evolution, ecology and civilisations. 爱琴海群岛:进化、生态和文明的天然实验室。
IF 3.3 3区 生物学 Q1 Agricultural and Biological Sciences Pub Date : 2017-02-21 eCollection Date: 2017-12-01 DOI: 10.1186/s40709-017-0061-3
Spyros Sfenthourakis, Kostas A Triantis

The Aegean archipelago, comprising numerous islands and islets with great heterogeneity in topographic, geological, historical and environmental properties, offers an ideal natural laboratory for ecological and evolutionary research, and has been the stage for a very long interaction between human civilizations and local ecosystems. This work presents insights that have been gained from past and current relevant research in the area, highlighting also the importance of the Aegean archipelago as a useful model to address many major questions in biogeography, ecology and evolutionary processes. Among the most interesting findings from such studies concern the role of habitat heterogeneity as the most important determinant of species richness, the development of a new model (Choros) for the species-area-habitats relationship, the mechanistic aspects of the Small Island Effect, the very high rates of species turnover, the lack of a role for interspecific competition in shaping species co-occurrence patterns in most cases, the importance of non adaptive radiation in diversification of several taxa, the insights into the relative roles of vicariance and dispersal in speciation, the understanding of the interplay between human presence and the establishment of exotic species and extinction of indigenous biotas. Concluding, the Aegean archipelago is an ideal stage for research in evolution, ecology and biogeography, and has the potential to become a model study area at a global level, especially for land-bridge, continental islands.

爱琴海群岛由众多岛屿和小岛组成,在地形、地质、历史和环境属性上具有很大的异质性,为生态和进化研究提供了理想的自然实验室,并且一直是人类文明与当地生态系统之间长期相互作用的舞台。这项工作展示了从该地区过去和当前的相关研究中获得的见解,也强调了爱琴海群岛作为解决生物地理学、生态学和进化过程中许多重大问题的有用模型的重要性。这些研究中最有趣的发现包括生境异质性作为物种丰富度的最重要决定因素的作用、物种-面积-生境关系的新模型(Choros)的发展、小岛屿效应的机制方面、物种周转率非常高、在大多数情况下形成物种共生模式时缺乏种间竞争的作用。非适应性辐射在若干分类群多样化中的重要性,物种变异和扩散在物种形成中的相对作用,人类存在与外来物种建立和本土生物灭绝之间的相互作用。综上所述,爱琴海群岛是进化、生态学和生物地理学研究的理想舞台,有可能成为全球范围内的典型研究区域,特别是陆桥、大陆岛屿。
{"title":"The Aegean archipelago: a natural laboratory of evolution, ecology and civilisations.","authors":"Spyros Sfenthourakis,&nbsp;Kostas A Triantis","doi":"10.1186/s40709-017-0061-3","DOIUrl":"https://doi.org/10.1186/s40709-017-0061-3","url":null,"abstract":"<p><p>The Aegean archipelago, comprising numerous islands and islets with great heterogeneity in topographic, geological, historical and environmental properties, offers an ideal natural laboratory for ecological and evolutionary research, and has been the stage for a very long interaction between human civilizations and local ecosystems. This work presents insights that have been gained from past and current relevant research in the area, highlighting also the importance of the Aegean archipelago as a useful model to address many major questions in biogeography, ecology and evolutionary processes. Among the most interesting findings from such studies concern the role of habitat heterogeneity as the most important determinant of species richness, the development of a new model (Choros) for the species-area-habitats relationship, the mechanistic aspects of the Small Island Effect, the very high rates of species turnover, the lack of a role for interspecific competition in shaping species co-occurrence patterns in most cases, the importance of non adaptive radiation in diversification of several taxa, the insights into the relative roles of vicariance and dispersal in speciation, the understanding of the interplay between human presence and the establishment of exotic species and extinction of indigenous biotas. Concluding, the Aegean archipelago is an ideal stage for research in evolution, ecology and biogeography, and has the potential to become a model study area at a global level, especially for land-bridge, continental islands.</p>","PeriodicalId":50251,"journal":{"name":"Journal of Biological Research-Thessaloniki","volume":null,"pages":null},"PeriodicalIF":3.3,"publicationDate":"2017-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40709-017-0061-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34776498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 47
期刊
Journal of Biological Research-Thessaloniki
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