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Linked and pleiotropic QTLs influencing carcass composition traits detected on porcine chromosome 7. 影响猪7号染色体胴体组成性状的连锁和多效性qtl。
Pub Date : 2007-04-01 DOI: 10.1017/S0016672307008701
Hélène Gilbert, Pascale LE Roy, Denis Milan, Jean-Pierre Bidanel

A multivariate QTL detection was carried out on fatness and carcass composition traits on porcine chromosome 7 (SSC7). Single-trait QTLs have already been detected in the SLA region, and multivariate approaches have been used to exploit the correlations between the traits to obtain more information on their pattern: almost 500 measurements were recorded for backfat thickness (BFT1, BFT2), backfat weight (BFW) and leaf fat weight (LFW) but only about half that number for intramuscular fat content (IMF), affecting the detection. First, groups of traits were selected using a backward selection procedure: traits were selected based on their contribution to the linear combination of traits discriminating the putative QTL haplotypes. Three groups of traits could be distinguished based on successive discriminant analyses: external fat (BFT1, BFT2), internal fat (LFW, IMF) and BFW. At least four regions were distinguished, preferentially affecting one or the other group, with the SLA region always influencing all the traits. Meishan alleles decreased all trait values except IMF, confirming an opportunity for marker-assisted selection to improve meat quality with maintenance of carcass composition based on Meishan alleles.

对猪7号染色体(SSC7)脂肪和胴体组成性状进行了多变量QTL检测。在SLA区域已经检测到单性状qtl,并使用多变量方法来利用性状之间的相关性以获得更多关于其模式的信息:记录了近500个背膘厚度(BFT1, BFT2),背膘质量(BFW)和叶膘质量(LFW)的测量,但仅记录了大约一半的肌内脂肪含量(IMF),这影响了检测。首先,使用逆向选择程序选择性状组:根据它们对判别假定QTL单倍型的性状线性组合的贡献来选择性状。通过逐次判别分析,可以区分出3组性状:外脂肪(BFT1、BFT2)、内脂肪(LFW、IMF)和BFW。至少有四个区域被区分出来,优先影响一组或另一组,SLA区域总是影响所有性状。梅山等位基因降低了除IMF外的所有性状值,证实了利用梅山等位基因进行标记辅助选择以维持胴体组成来改善肉质的可能性。
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引用次数: 19
Multiple-trait QTL mapping for body and organ weights in a cross between NMRI8 and DBA/2 mice. NMRI8与DBA/2杂交小鼠体重和器官重量的多性状QTL定位。
Pub Date : 2007-02-01 DOI: 10.1017/S001667230700852X
Christina Neuschl, Gudrun A Brockmann, Sara A Knott

Multiple-trait analyses have been shown to improve the detection of quantitative trait loci (QTLs) with multiple effects. Here we applied a multiple-trait approach on obesity- and growth-related traits that were surveyed in 275 F2 mice generated from an intercross between the high body weight selected line NMRI8 and DBA/2 as lean control. The parental lines differed 2.5-fold in body weight at the age of 6 weeks. Within the F2 population, the correlations between body weight and weights of abdominal fat weight, muscle, liver and kidney at the age of 6 weeks were about 0.8. A least squares multiple-trait QTL analysis was performed on these data to understand more precisely the cause of the genetic correlation between body weight, body composition traits and weights of inner organs. Regions on Chr 1, 2, 7 and 14 for body weights at different early ages and regions on Chr 1, 2, 4, 7, 14, 17 and 19 for organ weights at 6 weeks were found to have significant multiple effects at the genome-wide level.

多性状分析已被证明可以提高多效应数量性状位点(qtl)的检测。在这里,我们应用多性状方法研究了275只F2小鼠的肥胖和生长相关性状,这些小鼠是由高体重选择系NMRI8和DBA/2作为瘦对照杂交产生的。亲本系6周龄时体重相差2.5倍。F2群体6周龄时体重与腹部脂肪、肌肉、肝脏和肾脏的相关系数约为0.8。为了更准确地了解体重、体组成性状与内脏重量遗传相关的原因,对这些数据进行了最小二乘多性状QTL分析。研究发现,Chr 1、2、7和14上的区域与不同早期体重有关,Chr 1、2、4、7、14、17和19上的区域与6周时器官重量有关,在全基因组水平上具有显著的多重效应。
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引用次数: 16
Evaluation of linkage disequilibrium measures between multi-allelic markers as predictors of linkage disequilibrium between single nucleotide polymorphisms. 评价多等位基因标记间作为单核苷酸多态性间连锁不平衡预测因子的连锁不平衡措施。
Pub Date : 2007-02-01 DOI: 10.1017/S0016672307008634
H Zhao, D Nettleton, J C M Dekkers

Effectiveness of marker-assisted selection (MAS) and quantitative trait locus (QTL) mapping using population-wide linkage disequilibrium (LD) between markers and QTLs depends on the extent of LD and how it declines with distance between markers and QTLs in a population. Marker-QTL LD can be predicted from LD between markers. Our previous work evaluated LD measures between multi-allelic markers as predictors of usable LD of multi-allelic markers with QTLs. Since single nucleotide polymorphisms (SNPs) are the current marker of choice for high-density genotyping and LD-mapping of QTLs, the objective of this study was to use LD between multi-allelic markers to predict LD among biallelic SNPs or between SNPs and QTLs. Observable LD between multi-allelic markers was evaluated using nine measures. These included two pooled and standardized measures of LD between pairs of alleles at two markers based on Lewontin's LD measure, two pooled measures of squared correlations between alleles, one standardized measure using Hardy-Weinberg heterozygosities, and four measures based on the chi-square statistic for testing for association between alleles at two loci. The standardized chi-square measure that best predicted usable LD between multi-allelic markers and QTLs, based on our previous work, overestimated usable SNP-SNP or SNP-QTL LD. Instead, three other measures were found to be good predictors of usable SNP-SNP or SNP-QTL LD when LD is generated by drift. Therefore, the LD measure between multi-allelic markers that is best for predicting usable LD in a population depends on the type of markers (i.e. multi-allelic or biallelic) that will eventually be used for QTL mapping or MAS.

标记辅助选择(MAS)和利用标记与QTL间连锁不平衡(LD)进行数量性状位点(QTL)定位的有效性取决于LD的程度以及LD如何随群体中标记与QTL之间的距离而下降。标记- qtl LD可以通过标记间LD进行预测。我们之前的工作评估了多等位基因标记之间的LD测量作为多等位基因标记qtl可用LD的预测因子。由于单核苷酸多态性(snp)是目前高密度基因分型和qtl LD定位的首选标记,本研究的目的是利用多等位基因标记之间的LD来预测双等位snp之间或snp与qtl之间的LD。采用9种测量方法对多等位基因标记间的可观察LD进行评价。其中包括基于Lewontin's LD测量的两个标记对等位基因之间的LD的合并和标准化测量,两个等位基因之间的平方相关的合并测量,一个使用Hardy-Weinberg杂合的标准化测量,以及四个基于卡方统计的测量,用于测试两个位点上等位基因之间的相关性。基于我们之前的工作,标准化卡方测量最能预测多等位基因标记和qtl之间的可用LD,高估了可用SNP-SNP或SNP-QTL LD。相反,当LD由漂移产生时,发现其他三种测量方法可以很好地预测可用SNP-SNP或SNP-QTL LD。因此,多等位基因标记之间的LD测量最适合预测群体中的可用LD取决于最终将用于QTL定位或MAS的标记类型(即多等位基因或双等位基因)。
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引用次数: 76
Small-world networks decrease the speed of Muller's ratchet. 小世界网络降低了穆勒棘轮的速度。
Pub Date : 2007-02-01 DOI: 10.1017/S0016672307008658
Jaime Combadão, Paulo R A Campos, Francisco Dionisio, Isabel Gordo

Muller's ratchet is an evolutionary process that has been implicated in the extinction of asexual species, the evolution of non-recombining genomes, such as the mitochondria, the degeneration of the Y chromosome, and the evolution of sex and recombination. Here we study the speed of Muller's ratchet in a spatially structured population which is subdivided into many small populations (demes) connected by migration, and distributed on a graph. We studied different types of networks: regular networks (similar to the stepping-stone model), small-world networks and completely random graphs. We show that at the onset of the small-world network - which is characterized by high local connectivity among the demes but low average path length - the speed of the ratchet starts to decrease dramatically. This result is independent of the number of demes considered, but is more pronounced the larger the network and the stronger the deleterious effect of mutations. Furthermore, although the ratchet slows down with increasing migration between demes, the observed decrease in speed is smaller in the stepping-stone model than in small-world networks. As migration rate increases, the structured populations approach, but never reach, the result in the corresponding panmictic population with the same number of individuals. Since small-world networks have been shown to describe well the real contact networks among people, we discuss our results in the light of the evolution of microbes and disease epidemics.

穆勒棘轮是一个进化过程,与无性物种的灭绝、非重组基因组(如线粒体)的进化、Y染色体的退化以及性和重组的进化有关。在这里,我们研究了穆勒棘轮在一个空间结构种群中的速度,该种群被细分为许多通过迁移连接的小种群(demes),并分布在一个图上。我们研究了不同类型的网络:规则网络(类似于踏脚石模型)、小世界网络和完全随机图。我们发现,在小世界网络的初始阶段,棘轮的速度开始急剧下降,这种网络的特征是网络之间的局部连通性较高,但平均路径长度较短。这一结果与所考虑的个体数量无关,但网络越大,突变的有害影响越强,结果就越明显。此外,尽管棘轮会随着网络间迁移的增加而减慢,但在踏脚石模型中观察到的速度下降比在小世界网络中要小。随着迁移率的增加,结构种群接近但永远不会达到具有相同个体数量的相应的泛型种群。由于小世界网络已被证明可以很好地描述人们之间的真实接触网络,我们将根据微生物和疾病流行的进化来讨论我们的结果。
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引用次数: 18
A structural mixed model for variances in differential gene expression studies. 差异基因表达研究中差异的结构混合模型。
Pub Date : 2007-02-01 DOI: 10.1017/S0016672307008646
Florence Jaffrézic, Guillemette Marot, Séverine Degrelle, Isabelle Hue, Jean-Louis Foulley

The importance of variance modelling is now widely known for the analysis of microarray data. In particular the power and accuracy of statistical tests for differential gene expressions are highly dependent on variance modelling. The aim of this paper is to use a structural model on the variances, which includes a condition effect and a random gene effect, and to propose a simple estimation procedure for these parameters by working on the empirical variances. The proposed variance model was compared with various methods on both real and simulated data. It proved to be more powerful than the gene-by-gene analysis and more robust to the number of false positives than the homogeneous variance model. It performed well compared with recently proposed approaches such as SAM and VarMixt even for a small number of replicates, and performed similarly to Limma. The main advantage of the structural model is that, thanks to the use of a linear mixed model on the logarithm of the variances, various factors of variation can easily be incorporated in the model, which is not the case for previously proposed empirical Bayes methods. It is also very fast to compute and is adapted to the comparison of more than two conditions.

对于微阵列数据的分析,方差建模的重要性现在已经广为人知。特别是,差异基因表达的统计测试的能力和准确性高度依赖于方差建模。本文的目的是使用一个结构模型的方差,其中包括条件效应和随机基因效应,并提出了一个简单的估计程序,这些参数的经验方差的工作。并在实际数据和模拟数据上与各种方法进行了比较。事实证明,它比逐基因分析更有效,对假阳性数量的稳健性比齐次方差模型更强。与最近提出的方法(如SAM和varmix)相比,即使对于少量的重复,它也表现良好,并且与Limma相似。结构模型的主要优点是,由于对方差的对数使用了线性混合模型,因此可以很容易地将各种变化因素纳入模型,这是以前提出的经验贝叶斯方法所不能做到的。它的计算速度也非常快,并且适用于两个以上条件的比较。
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引用次数: 36
Functional mapping of reaction norms to multiple environmental signals. 反应规范对多种环境信号的功能映射。
Pub Date : 2007-02-01 DOI: 10.1017/S0016672307008622
Jiasheng Wu, Yanru Zeng, Jianqing Huang, Wei Hou, Jun Zhu, Rongling Wu

Whether there are different genes involved in response to different environmental signals and how these genes interact to determine the final expression of the trait are of fundamental importance in agricultural and biological research. We present a statistical framework for mapping environment-induced genes (or quantitative trait loci, QTLs) of major effects on the expression of a trait that respond to changing environments. This framework is constructed with a maximum-likelihood-based mixture model, in which the mean and covariance structure of environment-induced responses is modelled. The means for responses to continuous environmental states, referred to as reaction norms, are approximated for different QTL genotypes by mathematical equations that were derived from fundamental biological principles or based on statistical goodness-of-fit to observational data. The residual covariance between different environmental states was modelled by autoregressive processes. Such an approach to studying the genetic control of reaction norms can be expected to be advantageous over traditional mapping approaches in which no biological principles and statistical structures are considered. We demonstrate the analytical procedure and power of this approach by modelling the photosynthetic rate process as a function of temperature and light irradiance. Our approach allows for testing how a QTL affects the reaction norm of photosynthetic rate to a specific environment and whether there exist different QTLs to mediate photosynthetic responses to temperature and light irradiance, respectively.

是否有不同的基因参与对不同环境信号的反应,以及这些基因如何相互作用决定性状的最终表达,在农业和生物学研究中具有重要的基础意义。我们提出了一个统计框架,用于绘制环境诱导基因(或数量性状位点,qtl),这些基因对响应变化环境的性状表达有主要影响。该框架采用基于最大似然的混合模型构建,其中环境诱导响应的均值和协方差结构建模。不同QTL基因型对连续环境状态反应的均值,即反应规范,通过从基本生物学原理导出的数学方程或基于观测数据的统计拟合优度来近似计算。不同环境状态间的残差协方差采用自回归过程建模。这种研究反应规范遗传控制的方法有望优于不考虑生物学原理和统计结构的传统制图方法。我们通过模拟光合速率过程作为温度和光辐照度的函数来证明这种方法的分析过程和能力。我们的方法允许测试一个QTL如何影响光合速率对特定环境的反应规范,以及是否存在不同的QTL分别介导光合对温度和光照的反应。
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引用次数: 11
Gametogenesis of intergroup hybrids of hemiclonal frogs. 半无性蛙群间杂交种的配子发生。
Pub Date : 2007-02-01 DOI: 10.1017/S0016672307008610
Matilde Ragghianti, Stefania Bucci, Silvia Marracci, Claudio Casola, Giorgio Mancino, Hansjürg Hotz, Gaston-Denis Guex, Jörg Plötner, Thomas Uzzell

European water frog hybrids Rana esculenta (R. ridibundaxR. lessonae) reproduce hemiclonally, by hybridogenesis: in the germ line they exclude the genome of one parental species and produce haploid gametes with an unrecombined genome of the other parental species. In the widespread L-E population system, both sexes of hybrids (E) coexist with R. lessonae (L). They exclude the lessonae genome and produce ridibunda gametes. In the R-E system, hybrid males coexist with R. ridibunda (R); they exclude either their ridibunda or their lessonae genome and produce sperm with a lessonae or with a ridibunda genome or a mixture of both kinds of sperm. We examined 13 male offspring, 12 of which were from crosses between L-E system and R-E system frogs. All were somatically hybrid. With one exception, they excluded the lessonae genome in the germ line and subsequently endoreduplicated the ridibunda genome. Spermatogonial metaphases contained a haploid or a diploid number of ridibunda chromosomes, identified through in situ hybridization to a satellite DNA marker, and by spermatocyte I metaphases containing a haploid number of ridibunda bivalents. The exception, an F1 hybrid between L-E system R. lessonae and R-E system R. ridibunda, was not hybridogenetic, showed no genome exclusion, and evidenced a disturbed gametogenesis resulting from the combination of two heterospecific genomes. None of the hybridogenetic hybrids showed any cell lines excluding the ridibunda genome, the pattern most frequent in hybrids of the R-E system, unique to that system, and essential for its persistence. A particular combination of R-E system lessonae and R-E system ridibunda genomes seems necessary to induce the R-E system type of hemiclonal gametogenesis.

欧洲杂交水蛙。在种系中,它们排除了一个亲本物种的基因组,产生了带有另一个亲本物种未重组基因组的单倍体配子。在广泛分布的L-E种群系统中,雌雄杂交种(E)与小角田鼠(L)共存,它们排除小角田鼠基因组,产生小角田鼠配子。在R- e系统中,杂交雄性与ridibunda (R)共存;它们要么排除了它们的利迪本达基因组,要么排除了它们的利迪本达基因组,产生了含有利迪本达基因组或含有利迪本达基因组或两种精子的混合物的精子。我们检测了13只雄性后代,其中12只来自L-E系统与R-E系统的杂交。他们都是混血儿。除了一个例外,他们在种系中排除了lessonae基因组,随后对ridibunda基因组进行了内复制。精原细胞中期含有单倍体或二倍体数量的ridibunda染色体,通过原位杂交与卫星DNA标记鉴定,并通过含有单倍体数量的ridibunda二价体的精母细胞I中期鉴定。作为例外,L-E系统R. lessonae和R-E系统R. ridibunda之间的F1杂交种不具有杂交性,不存在基因组排斥现象,证明了两个异种基因组组合导致配子发生紊乱。所有的杂交种都没有显示出除ridibunda基因组外的任何细胞系,ridibunda基因组是R-E系统杂交种中最常见的模式,是该系统所特有的,也是其持久性所必需的。在诱导R-E系统型的半克隆配子体发生时,R-E系统loneae和R-E系统ridibunda基因组的特定组合似乎是必要的。
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引用次数: 41
Estimating the recombination parameter of a finite population model without selection. 无选择有限种群模型的重组参数估计。
Pub Date : 2007-01-01 DOI: 10.1017/S0016672308009610
R. Hudson
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引用次数: 29
Mutation-selection balance and the evolutionary advantage of sex and recombination. 突变选择平衡与性与重组的进化优势。
Pub Date : 2007-01-01 DOI: 10.1017/S0016672308009658
B. Charlesworth
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引用次数: 40
A test for the role of natural selection in the stabilization of transposable element copy number in a population of Drosophila melanogaster. 自然选择对果蝇转座因子拷贝数稳定作用的检验。
Pub Date : 2007-01-01 DOI: 10.1017/S0016672308009634
E. Montgomery, B. Charlesworth, C. Langley
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引用次数: 111
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