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Population genetic inference using a fixed number of segregating sites: a reassessment. 利用固定数量的分离位点进行群体遗传推断:重新评估。
Pub Date : 2007-08-01 DOI: 10.1017/S0016672307008877
Sebastián E Ramos-Onsins, Sylvain Mousset, Thomas Mitchell-Olds, Wolfgang Stephan

Coalescent theory is commonly used to perform population genetic inference at the nucleotide level. Here, we examine the procedure that fixes the number of segregating sites (henceforth the FS procedure). In this approach a fixed number of segregating sites (S) are placed on a coalescent tree (independently of the total and internode lengths of the tree). Thus, although widely used, the FS procedure does not strictly follow the assumptions of coalescent theory and must be considered an approximation of (i) the standard procedure that uses a fixed population mutation parameter theta, and (ii) procedures that condition on the number of segregating sites. We study the differences in the false positive rate for nine statistics by comparing the FS procedure with the procedures (i) and (ii), using several evolutionary models with single-locus and multilocus data. Our results indicate that for single-locus data the FS procedure is accurate for the equilibrium neutral model, but problems arise under the alternative models studied; furthermore, for multilocus data, the FS procedure becomes inaccurate even for the standard neutral model. Therefore, we recommend a procedure that fixes the theta value (or alternatively, procedures that condition on S and take into account the uncertainty of theta) for analysing evolutionary models with multilocus data. With single-locus data, the FS procedure should not be employed for models other than the standard neutral model.

聚结理论通常用于在核苷酸水平上进行群体遗传推断。在这里,我们研究确定分离位点数量的程序(今后称为FS程序)。在这种方法中,将固定数量的分离位点(S)放置在聚结树上(与树的总长度和节间长度无关)。因此,虽然被广泛使用,但FS程序并不严格遵循聚结理论的假设,必须被视为(i)使用固定种群突变参数theta的标准程序和(ii)以分离位点数量为条件的程序的近似。我们通过使用单位点和多位点数据的几种进化模型,将FS程序与程序(i)和(ii)进行比较,研究了9个统计量的假阳性率差异。结果表明,对于单基因座数据,FS程序对平衡中性模型是准确的,但在所研究的替代模型下存在问题;此外,对于多位点数据,FS程序即使对于标准中性模型也变得不准确。因此,我们推荐一种固定theta值的程序(或者,以S为条件并考虑theta的不确定性的程序)来分析具有多位点数据的进化模型。对于单基因座数据,除标准中性模型外,不应采用FS程序。
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引用次数: 11
Abstracts from the Seventeenth Genetics Society's Mammalian Genetics and Development Workshop. November 9-10, 2006. London, United Kingdom. 第十七届遗传学会哺乳动物遗传与发育研讨会摘要。2006年11月9日至10日。伦敦,英国。
Pub Date : 2007-06-01
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引用次数: 0
Molecular genetic basis of flower colour variegation in Linaria. 百合花颜色变异的分子遗传基础。
Pub Date : 2007-06-01 DOI: 10.1017/S0016672307008786
Lisete Galego, Jorge Almeida

To identify transposons that may be of use for mutagenesis we investigated the genetic molecular basis of a case of flower colour variegation in Linaria, a close relative of the model species Antirrhinum majus. We show that this variegation is attributable to an unstable mutant allele of the gene encoding dihydroflavonol-4-reductase, one of the enzymes required for anthocyanin biosynthesis. This allele carries an insertion of a transposon belonging to the CACTA family (Tl1, Transposon Linaria 1) which blocks its expression thus conferring an ivory flower colour phenotype. Tl1 is occasionally excised in dividing epidermal cells to produce clonal patches of red tissue on the ivory background, and in cells giving rise to gametes to generate reversion alleles conferring a fully coloured phenotype. This finding may open the way for targeted transposon-mutagenesis in Linaria, and hence for using this genus in comparative genetic studies.

为了鉴定可能用于诱变的转座子,我们研究了模式种Antirrhinum majus的近亲Linaria花颜色变异的遗传分子基础。我们表明,这种变异是由于编码二氢黄酮醇-4还原酶的基因的不稳定突变等位基因,这是花青素生物合成所需的酶之一。该等位基因携带一个属于CACTA家族的转座子(Tl1,转座子Linaria 1)的插入,该转座子阻止其表达,从而赋予象牙色的花朵表型。偶尔在表皮细胞分裂过程中,Tl1被切除以产生象牙色背景上的红色组织克隆斑块,以及在产生配子的细胞中,Tl1被切除以产生可逆等位基因,从而获得全彩色表型。这一发现可能为Linaria的靶向转座子诱变开辟了道路,并因此在比较遗传学研究中使用该属。
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引用次数: 13
An intervarietal genetic linkage map of Indian bread wheat (Triticum aestivum L.) and QTL maps for some metric traits. 印度面包小麦(Triticum aestivum L.)品种间遗传连锁图谱及部分性状的QTL图谱。
Pub Date : 2007-06-01 DOI: 10.1017/S0016672307008828
E Nalini, S G Bhagwat, N Jawali

Bread wheat (Triticum aestivum L.) exhibits very narrow genetic diversity and hence there is high relatedness among cultivated varieties. However, a population generated from an intervarietal cross, with the parents differing in a large number of traits, could lead to the generation of QTL maps which will be useful in practice. In this report a genetic linkage map of wheat is constructed using a cross between two Indian bread wheat varieties: Sonalika and Kalyansona. The linkage map consisted of 236 markers and spanned a distance of 3639 cM, with 1211.2 cM for the A genome, 1669.2 cM for the B genome, 192.4 cM for the D genome and 566.2 cM for unassigned groups. Linkage analysis defined 37 linkage groups of which 24 were assigned to 17 chromosomes. The genetic map was used to identify QTLs by composite internal mapping (CIM) for three metric traits, viz. culm length (CL), flag leaf length (FLL) and flag leaf breadth (FLB). Of 25 QTLs identified in this study, 15 have not been reported previously. Multitrait CIM (MCIM) analysis was carried out for traits that were significantly correlated such as FLB-FLL and CL-FLB-FLL. Detection of a large number of QTLs for the three traits analysed suggests that in parent cultivars that are not too diverse, the differences at genetic level detected as polymorphisms may be mostly associated with QTLs for the observed differences.

面包小麦(Triticum aestivum L.)具有非常狭窄的遗传多样性,因此栽培品种之间具有很高的亲缘性。然而,一个由品种间杂交产生的群体,如果亲本在许多性状上存在差异,可能会产生在实践中有用的QTL图谱。在本报告中,利用两个印度面包小麦品种:Sonalika和Kalyansona的杂交构建了小麦的遗传连锁图谱。该图谱由236个标记组成,全长3639 cM,其中a基因组1211.2 cM, B基因组1669.2 cM, D基因组192.4 cM,未分配组566.2 cM。连锁分析确定了37个连锁群,其中24个被分配到17条染色体上。利用遗传图谱对3个计量性状(即茎长、旗叶长、旗叶宽)的qtl进行了复合内部定位(CIM)。在本研究鉴定的25个qtl中,有15个以前未报道过。对FLB-FLL和CL-FLB-FLL等显著相关性状进行多性状CIM (MCIM)分析。这3个性状的大量qtl检测表明,在差异不太大的亲本品种中,检测到的遗传水平上的多态性差异可能主要与观察到的差异的qtl相关。
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引用次数: 6
Phenotypic and genetic variations and correlations in multitrait developmental instability: a multivariate Bayesian model applied to Speckled Wood butterfly (Pararge aegeria) wing measurements. 多性状发育不稳定性的表型和遗传变异及其相关性:一个应用于斑点木蝶翅膀测量的多变量贝叶斯模型。
Pub Date : 2007-06-01 DOI: 10.1017/S0016672307008816
Stefan Van Dongen, Willem Talloen

Phenotypic and genetic variation and covariation in developmental instability (DI) have been the subject of many debates. In this paper we develop and apply a statistical model in a Bayesian context to analyse different traits simultaneously in a multivariate model of DI. We apply the model to measurements of yellow spots on the front wing of the Speckled Wood butterfly (Pararge aegeria L.) in a full-sib breeding experiment. We estimated the posterior distribution of the broad-sense heritability of DI averaged across the five yellow spots, which had a median of 0.19 and a 95% credibility interval ranging between 0.04 and 0.64. Phenotypic and genetic correlations in DI could not be estimated accurately with the present sample size. Yellow spots 4 and 5 appeared to show some degree of developmental integration. The importance of this model and its possible extensions are discussed.

发育不稳定性(DI)的表型和遗传变异以及共变异一直是许多争论的主题。在本文中,我们开发并应用贝叶斯背景下的统计模型来同时分析DI的多变量模型中的不同特征。我们将该模型应用于斑点木蝴蝶(Pararge aegeria L.)全同胞育种实验中前翅黄斑的测量。我们估计了广义遗传力在五个黄点上的后验分布,中位数为0.19,95%可信区间为0.04至0.64。在目前的样本量下,不能准确地估计DI的表型和遗传相关性。黄色斑点4和5似乎显示出某种程度的发育整合。讨论了该模型的重要性及其可能的扩展。
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引用次数: 6
Triadic IBD coefficients and applications to estimating pairwise relatedness. 三合一IBD系数及其在两两相关性估计中的应用。
Pub Date : 2007-06-01 DOI: 10.1017/S0016672307008798
Jinliang Wang

Knowledge of the genetic relatedness among individuals is essential in diverse research areas such as behavioural ecology, conservation biology, quantitative genetics and forensics. How to estimate relatedness accurately from genetic marker information has been explored recently by many methodological studies. In this investigation I propose a new likelihood method that uses the genotypes of a triad of individuals in estimating pairwise relatedness (r). The idea is to use a third individual as a control (reference) in estimating the r between two other individuals, thus reducing the chance of genes identical in state being mistakenly inferred as identical by descent. The new method allows for inbreeding and accounts for genotype errors in data. Analyses of both simulated and human microsatellite and SNP datasets show that the quality of r estimates (measured by the root mean squared error, RMSE) is generally improved substantially by the new triadic likelihood method (TL) over the dyadic likelihood method and five moment estimators. Simulations also show that genotyping errors/mutations, when ignored, result in underestimates of r for related dyads, and that incorporating a model of typing errors in the TL method improves r estimates for highly related dyads but impairs those for loosely related or unrelated dyads. The effects of inbreeding were also investigated through simulations. It is concluded that, because most dyads in a natural population are unrelated or only loosely related, the overall performance of the new triadic likelihood method is the best, offering r estimates with a RMSE that is substantially smaller than the five commonly used moment estimators and the dyadic likelihood method.

在行为生态学、保护生物学、数量遗传学和法医学等不同的研究领域,个体之间的遗传关系知识是必不可少的。近年来,许多方法学研究都在探索如何从遗传标记信息中准确地估计亲缘关系。在本研究中,我提出了一种新的似然方法,该方法使用三个个体的基因型来估计两两亲缘关系(r)。其想法是使用第三个个体作为对照(参考)来估计其他两个个体之间的r,从而减少状态相同的基因被错误地推断为遗传相同的机会。新方法允许近亲繁殖,并解释了数据中的基因型错误。对模拟和人类微卫星和SNP数据集的分析表明,与二进似然方法和五矩估计方法相比,新的三进似然方法(TL)的r估计质量(以均方根误差(RMSE)衡量)总体上有很大提高。模拟还表明,如果忽略基因分型错误/突变,则会导致相关二联体的r值被低估,并且在TL方法中纳入分型错误模型可以提高高度相关二联体的r值,但会损害那些松散相关或不相关二联体的r值。通过模拟研究了近交的影响。结论是,由于自然种群中的大多数二元是不相关的或只是松散相关的,因此新的三元似然方法的总体性能是最好的,它提供的r估计的RMSE大大小于五种常用的矩估计和二元似然方法。
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引用次数: 345
Genetic diversity of cultivated and wild-type peanuts evaluated with M13-tailed SSR markers and sequencing. 利用m13尾SSR标记和序列分析对栽培型和野生型花生的遗传多样性进行了评价。
Pub Date : 2007-04-01 DOI: 10.1017/S0016672307008695
Noelle A Barkley, Rob E Dean, Roy N Pittman, Ming L Wang, Corley C Holbrook, Gary A Pederson

Thirty-one genomic SSR markers with a M13 tail attached were used to assess the genetic diversity of the peanut mini core collection. The M13-tailed method was effective in discriminating almost all the cultivated and wild accessions. A total of 477 alleles were detected with an average of 15.4 alleles per locus. The mean polymorphic information content (PIC) score was 0.687. The cultivated peanut (Arachis hypogaea L.) mini core produced a total of 312 alleles with an average of 10.1 alleles per locus. A neighbour-joining tree was constructed to determine the interspecific and intraspecific relationships in this data set. Almost all the peanut accessions in this data set classified into subspecies and botanical varieties such as subsp. hypogaea var. hypogaea, subsp. fastigiata var. fastigiata, and subsp. fastigiata var. vulgaris clustered with other accessions with the same classification, which lends further support to their current taxonomy. Alleles were sequenced from one of the SSR markers used in this study, which demonstrated that the repeat motif is conserved when transferring the marker across species borders. This study allowed the examination of the diversity and phylogenetic relationships in the peanut mini core which has not been previously reported.

利用31个带M13尾的基因组SSR标记,对花生迷你核心材料的遗传多样性进行了评价。m13 -尾法对栽培和野生材料的鉴别效果良好。共检测到477个等位基因,平均每个位点15.4个等位基因。多态信息含量(PIC)均值为0.687。栽培花生(arachhis hypogaea L.)小核共产生312个等位基因,平均每个位点10.1个等位基因。通过构建邻居连接树来确定该数据集的种间和种内关系。在这个数据集中,几乎所有的花生资料都被划分为亚种和植物变种,如亚种。Hypogaea的变体。尖形藻变种尖形藻和小尖形藻。与具有相同分类的其他种属聚类,进一步支持了其现有分类。对其中一个SSR标记的等位基因进行了测序,结果表明,该重复基序在跨物种转移时是保守的。本研究对花生迷你核的多样性和系统发育关系进行了研究,这是以前没有报道过的。
{"title":"Genetic diversity of cultivated and wild-type peanuts evaluated with M13-tailed SSR markers and sequencing.","authors":"Noelle A Barkley,&nbsp;Rob E Dean,&nbsp;Roy N Pittman,&nbsp;Ming L Wang,&nbsp;Corley C Holbrook,&nbsp;Gary A Pederson","doi":"10.1017/S0016672307008695","DOIUrl":"https://doi.org/10.1017/S0016672307008695","url":null,"abstract":"<p><p>Thirty-one genomic SSR markers with a M13 tail attached were used to assess the genetic diversity of the peanut mini core collection. The M13-tailed method was effective in discriminating almost all the cultivated and wild accessions. A total of 477 alleles were detected with an average of 15.4 alleles per locus. The mean polymorphic information content (PIC) score was 0.687. The cultivated peanut (Arachis hypogaea L.) mini core produced a total of 312 alleles with an average of 10.1 alleles per locus. A neighbour-joining tree was constructed to determine the interspecific and intraspecific relationships in this data set. Almost all the peanut accessions in this data set classified into subspecies and botanical varieties such as subsp. hypogaea var. hypogaea, subsp. fastigiata var. fastigiata, and subsp. fastigiata var. vulgaris clustered with other accessions with the same classification, which lends further support to their current taxonomy. Alleles were sequenced from one of the SSR markers used in this study, which demonstrated that the repeat motif is conserved when transferring the marker across species borders. This study allowed the examination of the diversity and phylogenetic relationships in the peanut mini core which has not been previously reported.</p>","PeriodicalId":12777,"journal":{"name":"Genetical research","volume":"89 2","pages":"93-106"},"PeriodicalIF":0.0,"publicationDate":"2007-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/S0016672307008695","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"26863238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 62
Quantitative and molecular genetic variation in sympatric populations of Medicago laciniata and M. truncatula (Fabaceae): relationships with eco-geographical factors. 苜蓿科同域居群的数量和分子遗传变异:与生态地理因子的关系
Pub Date : 2007-04-01 DOI: 10.1017/S0016672307008725
Mounawer Badri, Houcine Ilahi, Thierry Huguet, Mohamed Elarbi Aouani

Medicago laciniata is restricted to south of the Mediterranean basin and it extends in Tunisia from the inferior semi-arid to Saharan stages, whereas M. truncatula is a widespread species in such areas. The genetic variability in four Tunisian sympatric populations of M. laciniata and M. truncatula was analysed using 19 quantitative traits and 20 microsatellites. We investigated the amplification transferability of 52 microsatellites developed in M. truncatula to M. laciniata. Results indicate that about 78.85% of used markers are valuable genetic markers for M. laciniata. M. laciniata displayed significantly lower quantitative differentiation among populations (QST=0.12) than did M. truncatula (QST=0.45). However, high molecular differentiations, with no significant difference, were observed in M. laciniata (FST=0.48) and M. truncatula (FST=0.47). Several quantitative traits exhibited significantly smaller QST than FST for M. laciniata, consistent with constraining selection. For M. truncatula, the majority of traits displayed no statistical difference in the level of QST and FST. Furthermore, these traits are significantly associated with eco-geographical factors, consistent with selection for local adaptation rather than genetic drift. In both species, there was no significant correlation between genetic variation at quantitative traits and molecular markers. The site-of-origin explains about 5.85% and 11.27% of total quantitative genetic variability among populations of M. laciniata and M. truncatula, respectively. Established correlations between quantitative traits and eco-geographical factors were generally more moderate for M. laciniata than for M. truncatula, suggesting that the two species exhibit different genetic bases of local adaptation to varying environmental conditions. Nevertheless, no consistent patterns of associations were found between gene diversity (He) and environmental factors in either species.

苜蓿(Medicago laciniata)局限于地中海盆地南部,在突尼斯从次半干旱地区延伸到撒哈拉地区,而M. truncatula在这些地区是广泛分布的物种。利用19个数量性状和20个微卫星分析了4个突尼斯同域居群的遗传变异。研究了52个小卫星的扩增转移性。结果表明,78.85%的标记是有价值的遗传标记。种群间的数量分化(QST=0.12)显著低于短尾松(QST=0.45)。然而,在M. laciniata (FST=0.48)和M. truncatula (FST=0.47)中观察到高分子分化,但差异不显著。一些数量性状的QST显著小于FST,与约束选择一致。对于短尾草,大部分性状在QST和FST水平上无统计学差异。此外,这些性状与生态地理因素显著相关,与本地适应的选择一致,而不是遗传漂变。在这两个物种中,数量性状和分子标记的遗传变异没有显著的相关性。起源位点分别解释了5.85%和11.27%的总数量遗传变异。已建立的数量性状与生态地理因子的相关性总体上较为温和,表明两种物种对不同环境条件的局部适应具有不同的遗传基础。然而,在两个物种中,基因多样性(He)与环境因素之间没有一致的关联模式。
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引用次数: 36
Selection responses of means and inbreeding depression for female fecundity in Drosophila melanogaster suggest contributions from intermediate-frequency alleles to quantitative trait variation. 黑腹果蝇雌性繁殖力的选择反应和近交抑制表明,中频等位基因对数量性状变异有贡献。
Pub Date : 2007-04-01 Epub Date: 2007-05-23 DOI: 10.1017/S001667230700866X
Brian Charlesworth, Takahiro Miyo, Helen Borthwick

The extent to which quantitative trait variability is caused by rare alleles maintained by mutation, versus intermediate-frequency alleles maintained by balancing selection, is an unsolved problem of evolutionary genetics. We describe the results of an experiment to examine the effects of selection on the mean and extent of inbreeding depression for early female fecundity in Drosophila melanogaster. Theory predicts that rare, partially recessive deleterious alleles should cause a much larger change in the effect of inbreeding than in the mean of the outbred population, with the change in inbreeding effect having an opposite sign to the change in mean. The present experiment fails to support this prediction, suggesting that intermediate-frequency alleles contribute substantially to genetic variation in early fecundity.

数量性状变异在多大程度上是由突变维持的稀有等位基因引起的,而在多大程度上是由平衡选择维持的中频等位基因引起的,这是进化遗传学尚未解决的问题。我们描述了一项实验的结果,以研究选择对雌性早期繁殖力的近亲繁殖抑制的平均值和程度的影响。理论预测,罕见的、部分隐性的有害等位基因引起的近交效应的变化应该比近交种群的平均值大得多,近交效应的变化与平均值的变化具有相反的符号。目前的实验未能支持这一预测,表明中频等位基因在早期繁殖力的遗传变异中起着重要作用。
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引用次数: 37
Phenotypic effects induced by knock-down of the period clock gene in Bombyx mori. 家蚕生物钟基因敲除诱导的表型效应。
Pub Date : 2007-04-01 DOI: 10.1017/S0016672307008713
Federica Sandrelli, Silvia Cappellozza, Clara Benna, Alessio Saviane, Antonio Mastella, Gabriella M Mazzotta, Stephane Moreau, Mirko Pegoraro, Alberto Piccin, Mauro A Zordan, Luciano Cappellozza, Charalambos P Kyriacou, Rodolfo Costa

The lepidopteran Bombyx mori is an insect of considerable scientific and economic importance. Recently, the B. mori circadian clock gene period has been molecularly characterized. We have transformed a B. mori strain with a construct encoding a period double-strand RNA in order to knock-down period gene expression. We observe that this post-transcriptional silencing produces a small but detectable disruption in the egg-hatching rhythm, as well as a reduction in egg-to-adult developmental time, without altering silk production parameters. Thus we show that both circadian and non-circadian phenotypes can be altered by changing per expression, and, at a practical level, these results suggest that per knock-down may provide a suitable strategy for improving the efficiency of rearing, without affecting silk productivity.

鳞翅目家蚕是一种具有重要科学和经济意义的昆虫。近年来,对家蚕生物钟基因周期进行了分子表征。我们用编码周期双链RNA的结构体转化了一种家蚕菌株,以敲除周期基因的表达。我们观察到,这种转录后沉默会对卵孵化节律产生微小但可检测的破坏,并减少卵到成虫的发育时间,而不会改变产丝参数。因此,我们表明昼夜节律和非昼夜节律表型都可以通过改变每个表达而改变,并且,在实际水平上,这些结果表明,每个敲除可能为提高饲养效率提供了合适的策略,而不会影响丝绸产量。
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引用次数: 24
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