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Genetic mapping of allometric scaling laws. 异速标度定律的遗传作图。
Pub Date : 2006-06-01 DOI: 10.1017/S0016672306008172
Fei Long, Ying Qing Chen, James M Cheverud, Rongling Wu

Many biological processes, from cellular metabolism to population dynamics, are characterized by particular allometric scaling relationships between rate and size (power laws). A statistical model for mapping specific quantitative trait loci (QTLs) that are responsible for allometric scaling laws has been developed. We present an improved model for allometric mapping of QTLs based on a more general allometry equation. This improved model includes two steps: (1) use model II regression analysis to estimate the parameters underlying universal allometric scaling laws, and (2) substitute the estimated allometric parameters in the mixture-based mapping model to obtain the estimation of QTL position and effects. This model has been validated by a real example for a mouse F2 progeny, in which two QTLs were detected on different chromosomes that determine the allometric relationship between growth rate and body weight.

许多生物过程,从细胞代谢到种群动态,都以速率和大小之间的特殊异速尺度关系(幂律)为特征。建立了与异速缩放规律有关的特定数量性状位点(qtl)的统计模型。我们提出了一个改进的基于更一般的异速映射方程的qtl异速映射模型。该改进模型包括两个步骤:(1)利用模型II回归分析估计通用异速尺度规律的参数;(2)将估计的异速参数代入基于混合物的映射模型中,得到QTL位置和效应的估计。该模型已通过一个小鼠F2后代的实际例子得到验证,其中在不同的染色体上检测到两个qtl,这些qtl决定了生长速度和体重之间的异速生长关系。
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引用次数: 19
The genetic outcomes of sex and recombination in long-term functionally parthenogenetic lineages of Australian Sitobion aphids. 澳大利亚Sitobion蚜虫长期功能孤雌生殖谱系的性别和重组遗传结果。
Pub Date : 2006-06-01 DOI: 10.1017/S0016672306008202
Alex C C Wilson, Paul Sunnucks

The typical life cycle of an aphid is cyclical parthenogenesis which involves the alternation of sexual and asexual reproduction. However, aphid life cycles, even within a species, can encompass everything on a continuum from obligate sexuality, through facultative sexuality to obligate asexuality. Loss of the sexual cycle in aphids is frequently associated with the introduction of a new pest and can occur for a number of environmental and genetic reasons. Here we investigate loss of sexual function in Sitobion aphids in Australia. Specifically, we aimed to determine whether an absence of sexual reproduction in Australian Sitobion results from genetic loss of sexual function or environmental constraints in the introduced range. We addressed our aims by performing a series of breeding experiments. We found that some lineages have genetically lost sexual function while others retain sexual function and appear environmentally constrained to asexuality. Further, in our crosses, using autosomal and X-linked microsatellite markers, we identified processes deviating from normal Mendelian segregation. We observed strong deviations in X chromosome transmission through the sexual cycle. Additionally, when progeny genotypes were examined across multiple loci simultaneously we found that some multilocus genotypes are significantly over-represented in the sample and that levels of heterozygosity were much higher than expected at almost all loci. This study demonstrates that strong biases in the transmission of X chromosomes through the sexual cycle are likely to be widespread in aphids. The mechanisms underlying these patterns are not clear. We discuss several possible alternatives, including mutation accumulation during periods of functional asexuality and genetic imprinting.

蚜虫的典型生命周期是周期性的孤雌生殖,包括有性繁殖和无性繁殖的交替。然而,蚜虫的生命周期,即使在一个物种内,也可以包含从专性,兼性到专性无性的连续统一体。蚜虫的性周期的丧失通常与新害虫的引入有关,并且可能由于一些环境和遗传原因而发生。在这里,我们调查了澳大利亚的Sitobion蚜虫的性功能丧失。具体来说,我们的目的是确定澳大利亚西托比翁的有性生殖缺失是由于引入范围内的性功能遗传丧失还是环境限制造成的。我们通过进行一系列育种实验来实现我们的目标。我们发现,一些血统在基因上失去了性功能,而另一些则保留了性功能,似乎受到环境的限制而成为无性恋。此外,在我们的杂交中,使用常染色体和x连锁微卫星标记,我们确定了偏离正常孟德尔分离的过程。我们观察到X染色体在性周期中的传播有很强的偏差。此外,当同时检测多个基因座的后代基因型时,我们发现一些多基因座基因型在样本中明显过度代表,并且几乎所有基因座的杂合性水平都远高于预期。这项研究表明,通过性周期传播X染色体的强烈偏见可能在蚜虫中广泛存在。这些模式背后的机制尚不清楚。我们讨论了几种可能的替代方法,包括功能性无性行为期间的突变积累和遗传印记。
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引用次数: 15
Microsatellites reveal extensive geographical, ecological and genetic contacts between invasive and indigenous whitefly biotypes in an insular environment. 微卫星揭示了岛屿环境中入侵和本地白蝇生物型之间广泛的地理、生态和遗传联系。
Pub Date : 2006-04-01 DOI: 10.1017/S0016672306008135
H Delatte, P David, M Granier, J M Lett, R Goldbach, M Peterschmitt, B Reynaud

Human-mediated bioinvasions provide the opportunity to study the early stages of contact between formerly allopatric, divergent populations of a species. However, when invasive and resident populations are morphologically similar, it may be very difficult to assess their distribution in the field, as well as the extent of ecological overlap and genetic exchanges between invasive and resident populations. We here illustrate the use of data obtained from a set of eight microsatellite markers together with Bayesian clustering methods to document invasions in a group of major tropical pests, Bemisia tabaci, which comprises several morphologically indistinguishable biotypes with different agronomic impacts. We focus on the island of La Réunion, where an invasive biotype (B) has recently been introduced and now interacts with the resident biotype (Ms). The temporal and spatial distribution, host-plant range and genetic structure of both biotypes are investigated. We showed (i) that, without prior information, clustering methods separate two groups of individuals that can safely be identified as the B and Ms biotypes; (ii) that the B biotype has invaded all regions of the island, and showed no signs of genetic founder effect relative to the Ms biotype; (iii) that the B and Ms biotypes coexist in sympatry throughout most of their geographical ranges, although they tend to segregate into different host plants; and finally (iv) that asymmetrical and locus-specific introgression occurs between the two biotypes when they are in syntopy.

人类介导的生物入侵提供了研究一个物种以前的异域、不同种群之间接触的早期阶段的机会。然而,当入侵种群和常住种群形态相似时,很难评估它们在野外的分布,以及入侵种群和常住种群之间的生态重叠程度和遗传交换。本文利用8个微卫星标记和贝叶斯聚类方法记录了一组主要热带害虫——烟粉虱的入侵,这些害虫包括几种形态上难以区分的生物型,具有不同的农艺影响。我们的重点是La r union岛,那里最近引进了一种入侵型生物(B),现在与常驻型生物(Ms)相互作用。研究了两种生物型的时空分布、寄主范围和遗传结构。我们发现(i)在没有先验信息的情况下,聚类方法可以将两组个体分离为B和Ms生物型;(ii) B生物型侵染了全岛的所有地区,与Ms生物型相比没有出现遗传奠基者效应的迹象;(iii) B型和Ms型在其大部分地理分布范围内共生共存,尽管它们倾向于分离到不同的寄主植物中;最后(iv)当两种生物型处于合型时,它们之间会发生不对称和位点特异性渗入。
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引用次数: 66
On the need for combining complementary analyses to assess the effect of a candidate gene and the evolution of its polymorphism: the example of the Major Histocompatibility Complex in chicken. 结合互补分析评估候选基因影响及其多态性进化的必要性:以鸡主要组织相容性复合体为例。
Pub Date : 2006-04-01 Epub Date: 2006-05-10 DOI: 10.1017/S0016672306008044
Valerie Loywyck, Marie-Helene Pinard-van der Laan, Isabelle Goldringer, Etienne Verrier

The aim of this paper is to combine different but complementary approaches to check the neutrality of a given locus in a selected population. Analysis was undertaken through the polymorphism's evolution compared with that predicted under the effect of drift and through the analysis of the variance components of the measured traits, considering the effect of the locus as either a fixed or a random effect. This study deals with the case of the MHC locus, using both data from experimental lines of chicken selected for three different criteria of immune response, and frequencies of the genotyped haplotypes over time. Both the evolution of the polymorphism and the variance components approach have led to the conclusion that the MHC locus has an effect on the trait affecting antibody production against the Newcastle disease virus. Results have also highlighted the interest in using various methods in the case of low allelic frequencies. However, none of the common hypotheses, overdominance or frequency-dependent selection, was sufficient to explain the observed variation of the MHC polymorphism, which was displayed by the temporal variation of the allelic frequencies.

本文的目的是结合不同但互补的方法来检查特定种群中给定位点的中立性。将基因座的影响分为固定效应和随机效应两种,将多态性的演变与漂移效应下的预测结果进行比较,并对被测性状的方差成分进行分析。本研究处理MHC基因座的情况,使用来自鸡的实验系的数据,选择了三种不同的免疫反应标准,以及基因型单倍型随时间的频率。多态性的进化和方差成分的方法都得出了MHC位点对影响新城疫病毒抗体产生的性状有影响的结论。结果还强调了在低等位基因频率的情况下使用各种方法的兴趣。然而,任何一种常见的假设,无论是显性还是频率依赖选择,都不足以解释观察到的MHC多态性的变化,这种变化表现在等位基因频率的时间变化上。
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引用次数: 4
Comparative gene mapping in Arabidopsis lyrata chromosomes 1 and 2 and the corresponding A. thaliana chromosome 1: recombination rates, rearrangements and centromere location. 拟南芥染色体1和2与拟南芥染色体1的基因定位比较:重组率、重排和着丝粒位置。
Pub Date : 2006-04-01 DOI: 10.1017/S0016672306008020
Bengt Hansson, Akira Kawabe, Sonja Preuss, Helmi Kuittinen, Deborah Charlesworth

To add detail to the genetic map of Arabidopsis lyrata, and compare it with that of A. thaliana, we have developed many additional markers in the A. lyrata linkage groups, LG1 and LG2, corresponding to A. thaliana chromosome 1. We used a newly developed method for marker development for single nucleotide polymorphisms present in gene sequences, plus length differences, to map genes in an A. lyrata family, including variants in several genes close to the A. thaliana centromere 1, providing the first data on the location of an A. lyrata centromere; we discuss the implications for the evolution of chromosome 1 of A. thaliana. With our larger marker density, large rearrangements between the two Arabidopsis species are excluded, except for a large inversion on LG2. This was previously known in Capsella; its presence in A. lyrata suggests that, like most other rearrangements, it probably arose in the A. thaliana lineage. Knowing that marker orders are similar, we can now compare homologous, non-rearranged map distances to test the prediction of more frequent crossing-over in the more inbreeding species. Our results support the previous conclusion of similar distances in the two species for A. lyrata LG1 markers. For LG2 markers, the distances were consistently, but non-significantly, larger in A. lyrata. Given the two species' large DNA content difference, the similarity of map lengths, particularly for LG1, suggests that crossing-over is more frequent across comparable physical distances in the inbreeder, A. thaliana, as predicted.

为了增加拟南芥遗传图谱的细节,并将其与拟南芥进行比较,我们在拟南芥1号染色体的LG1和LG2连锁群中开发了许多额外的标记。我们采用了一种新开发的标记开发方法,对基因序列中存在的单核苷酸多态性进行标记开发,加上长度差异,绘制了a . lyrata家族的基因图谱,包括靠近a . thaliana着丝粒1的几个基因变异,提供了a . lyrata着丝粒位置的第一个数据;我们讨论了拟南芥1号染色体进化的意义。由于我们的标记密度较大,除了LG2上的大反转外,两个拟南芥物种之间的大重排被排除在外。这是之前在Capsella发现的;它在A. lyrata中的存在表明,像大多数其他重组一样,它可能出现在A. thaliana谱系中。知道了标记顺序是相似的,我们现在可以比较同源的,非重新排列的地图距离,以测试在近亲繁殖的物种中更频繁的杂交预测。我们的研究结果支持了之前的结论,即两种弓形蝽的LG1标记距离相近。对于LG2标记,白莲的距离一致但不显著地大于白莲。考虑到这两个物种DNA含量的巨大差异,图谱长度的相似性,尤其是LG1,表明在近亲繁殖者A. thaliana中,在相似的物理距离上杂交更为频繁,正如预测的那样。
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引用次数: 40
Genetic architecture of variation in sex-comb tooth number in Drosophila simulans. 拟果蝇性别变异的遗传结构。
Pub Date : 2006-04-01 DOI: 10.1017/S0016672306008111
Haruki Tatsuta, Toshiyuki Takano-Shimizu

The sex comb on the forelegs of Drosophila males is a secondary sexual trait, and the number of teeth on these combs varies greatly within and between species. To understand the relationship between the intra- and interspecific variation, we performed quantitative trait locus (QTL) analyses of the intraspecific variation in sex-comb tooth number. We used five mapping populations derived from two inbred Drosophila simulans strains that were divergent in the number of sex-comb teeth. Although no QTLs were detected on the X chromosome, we identified four QTLs on the second chromosome and three QTLs on the third chromosome. While identification and estimated effects of the second-chromosome QTLs depend on genetic backgrounds, significant and consistent effects of the two third-chromosome QTLs were found in two genetic backgrounds. There were significant epistatic interactions between a second-chromosome QTL and a third-chromosome QTL, as well as between two second-chromosome QTLs. The third-chromosome QTLs are concordant with the locations of the QTLs responsible for the previously observed differences in sex-comb tooth number between D. simulans and D. mauritiana.

雄性果蝇前腿上的性梳是第二性征,这些梳上的齿数在物种内部和不同物种之间差异很大。为了解种内变异与种间变异之间的关系,本研究采用数量性状位点(QTL)对种内变异进行了分析。我们使用了来自两个近亲繁殖的拟果蝇菌株的5个绘制种群,这些菌株在性别梳齿数量上存在差异。虽然在X染色体上没有检测到qtl,但我们在第二染色体上发现了4个qtl,在第三染色体上发现了3个qtl。虽然第二染色体qtl的鉴定和估计效应依赖于遗传背景,但在两个遗传背景下发现了两个第三染色体qtl的显著和一致的效应。第二染色体QTL与第三染色体QTL之间以及两个第二染色体QTL之间存在显著的上位性相互作用。第三染色体的qtl与先前观察到的D. simulans和D. mauritiana在性别梳齿数上的差异的qtl的位置一致。
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引用次数: 16
Aldehyde dehydrogenase is essential for both adult and larval ethanol resistance in Drosophila melanogaster. 醛脱氢酶对黑腹果蝇成虫和幼虫的乙醇抗性均有重要作用。
Pub Date : 2006-04-01 Epub Date: 2006-03-28 DOI: 10.1017/S0016672306008032
James D Fry, Molly Saweikis

The enzyme aldehyde dehydrogenase (ALDH) is essential for ethanol metabolism in mammals, converting the highly toxic intermediate acetaldehyde to acetate. The role of ALDH in Drosophila has been debated, with some authors arguing that, at least in larvae, acetaldehyde detoxification is carried out mainly by alcohol dehydrogenase (ADH), the enzyme responsible for converting ethanol to acetaldehyde. Here, we report the creation and characterization of four null mutants of Aldh, the putative structural locus for ALDH. Aldh null larvae and adults are poisoned by ethanol concentrations easily tolerated by wild-types; their ethanol sensitivity is in fact comparable to that of Adh nulls. The results refute the view that ALDH plays only a minor role in ethanol detoxification in larvae, and suggest that Aldh and Adh may be equally important players in the evolution of ethanol resistance in fruit-breeding Drosophila.

醛脱氢酶(ALDH)对哺乳动物的乙醇代谢至关重要,它能将剧毒的中间体乙醛转化为乙酸。ALDH在果蝇中的作用一直存在争议,一些作者认为,至少在幼虫中,乙醛解毒主要是由乙醇脱氢酶(ADH)进行的,这种酶负责将乙醇转化为乙醛。在这里,我们报道了Aldh的四个零突变体的创建和表征,Aldh是假定的结构位点。无醛幼虫和成虫被野生型容易耐受的乙醇浓度中毒;它们对乙醇的敏感性实际上与Adh零相当。研究结果反驳了ALDH在果蝇幼虫乙醇解毒过程中仅起次要作用的观点,表明ALDH和Adh在果蝇的乙醇抗性进化中可能同样重要。
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引用次数: 41
Quantifying the genomic decay paradox due to Muller's ratchet in human mitochondrial DNA. 量化人类线粒体DNA中穆勒棘轮引起的基因组衰变悖论。
Pub Date : 2006-04-01 DOI: 10.1017/S0016672306008123
Laurence Loewe

The observation of high mitochondrial mutation rates in human pedigrees has led to the question of how such an asexual genetic system can survive the accumulation of slightly deleterious mutations caused by Muller's ratchet. I define a null model to quantify in unprecedented detail the threat from extinction caused by Muller's ratchet. This model is general enough to explore the biological significance of Muller's ratchet in various species where its operation has been suspected. For increased precision over a wide range of parameter space I employ individual-based simulations run by evolution@home, the first global computing system for evolutionary biology. After compiling realistic values for the key parameters in human mitochondrial DNA (mtDNA) I find that a surprisingly large range of biologically realistic parameter combinations would lead to the extinction of the human line over a period of 20 million years - if accepted wisdom about mtDNA and Muller's ratchet is correct. The resulting genomic decay paradox complements a similar threat from extinction due to mutation accumulation in nuclear DNA and suggests evaluation of unconventional explanations for long-term persistence. A substantial list of potential solutions is given, including compensatory back mutations, mutation rate heterogeneity and occasional recombination in mtDNA. Future work will have to explore which of these actually solves the paradox. Nonetheless, the results presented here provide yet another reason to minimize anthropogenic increase of mutation rates.

在人类谱系中观察到的高线粒体突变率引发了这样一个问题:这样一个无性遗传系统是如何在穆勒棘轮引起的轻微有害突变积累中存活下来的?我定义了一个零模型,以前所未有的细节量化穆勒棘轮造成的灭绝威胁。该模型具有足够的通用性,可以在怀疑穆勒棘轮作用的各种物种中探索其生物学意义。为了在广泛的参数空间范围内提高精度,我使用了由evolution@home运行的基于个体的模拟,这是进化生物学的第一个全球计算系统。在编译了人类线粒体DNA (mtDNA)关键参数的真实值之后,我发现,如果关于mtDNA和穆勒棘轮的公认智慧是正确的,那么令人惊讶的大范围生物学上真实的参数组合将导致人类在2000万年的时间内灭绝。由此产生的基因组衰变悖论补充了核DNA突变积累导致的类似灭绝威胁,并建议对长期持久性的非常规解释进行评估。给出了大量潜在的解决方案,包括补偿性回突变,突变率异质性和mtDNA的偶尔重组。未来的工作将不得不探索哪一种方法真正解决了这个悖论。尽管如此,这里提出的结果提供了另一个减少人为突变率增加的理由。
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引用次数: 81
Modelling epistatic effects of embryo and endosperm QTL on seed quality traits. 胚和胚乳QTL对种子品质性状上位性影响的建模。
Pub Date : 2006-02-01 DOI: 10.1017/S0016672306007956
Yuehua Cui, Jianguo Wu, Chunhai Shi, Ramon C Littell, Rongling Wu
Coordinated expression of embryo and endosperm tissues is required for proper seed development. The coordination among these two tissues is controlled by the interaction between multiple genes expressed in the embryo and endosperm genomes. In this article, we present a statistical model for testing whether quantitative trait loci (QTL) active in different genomes, diploid embryo and triploid endosperm, epistatically affect a trait expressed on the endosperm tissue. The maximum likelihood approach, implemented with the EM algorithm, was derived to provide the maximum likelihood estimates of the locations of embryo- and endosperm-specific QTL and their main effects and epistatic effects. This model was used in a real example for rice in which two QTL, one from the embryo genome and the other from the endosperm genome, exert a significant interaction effect on gel consistency on the endosperm. Our model has successfully detected Waxy, a candidate gene in the embryo genome known to regulate one of the major steps of amylose biosynthesis in the endosperm. This model will have great implications for agricultural and evolutionary genetic research.
胚和胚乳组织的协调表达是种子正常发育所必需的。这两个组织之间的协调是由胚胎和胚乳基因组中表达的多个基因之间的相互作用控制的。本文建立了一个统计模型,用于检验在二倍体胚胎和三倍体胚乳不同基因组中活跃的数量性状位点(QTL)是否对胚乳组织上表达的性状产生显性影响。利用EM算法实现的最大似然方法可提供胚胎和胚乳特异性QTL位置及其主要效应和上位效应的最大似然估计。该模型应用于一个水稻的实际实例,其中两个QTL,一个来自胚胎基因组,另一个来自胚乳基因组,对胚乳凝胶浓度产生显著的互作效应。我们的模型已经成功地检测到Waxy,这是胚胎基因组中的一个候选基因,已知它调节胚乳中直链淀粉生物合成的一个主要步骤。这一模型将对农业和进化基因研究产生重大影响。
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引用次数: 9
An independent non-linear latitudinal cline for the sn-glycerol-3-phosphate (alpha- Gpdh ) polymorphism of Drosophila melanogaster from eastern Australia. 东澳大利亚黑腹果蝇sn-甘油-3-磷酸(α - Gpdh)多态性的独立非线性纬度梯度。
Pub Date : 2006-02-01 Epub Date: 2006-02-10 DOI: 10.1017/S0016672306007919
Paul A Umina, Ary A Hoffmann, Andrew R Weeks, Stephen W McKechnie

Latitudinal variation of the polymorphic sn-glycerol-3-phosphate (alpha-Gpdh) locus in Drosophila melanogaster has been characterized on several continents; however, apparent clinal patterns are potentially confounded by linkage with an inversion, close associations with other genetic markers that vary clinally, and a tandem alpha-Gpdh pseudogene. Here we compare clinal patterns in alpha-Gpdh with those of other linked markers by testing field flies from eastern Australian locations collected in two separate years. The alpha-Gpdh variation exhibited a consistent non-linear cline reflecting an increase in the alpha-GpdhF allele at extreme latitudes. This pattern was not influenced by the In(2L)t inversion wherein this locus is located, nor was it influenced by the presence of the alpha-Gpdh pseudogene, whose presence was ubiquitous and highly variable among populations. The alpha-Gpdh pattern was also independent of a cline in allozyme frequencies at the alcohol dehydrogenase (Adh) locus, and two length polymorphisms in the Adh gene. These results suggest clinal selection at the alpha-Gpdh locus that is partially or wholly unrelated to linear climatic gradients along the eastern coast of Australia.

黑腹果蝇(Drosophila melanogaster)多态性sn-甘油-3-磷酸(α - gpdh)基因座的纬向变异已经在几个大洲得到了表征;然而,明显的临床模式可能与倒置的连锁、与其他临床变化的遗传标记的密切关联以及串联α - gpdh假基因相混淆。在这里,我们比较了α - gpdh的临床模式与其他相关标记,通过测试在两个不同的年份从澳大利亚东部地区收集的田野苍蝇。α - gpdhh变异呈现一致的非线性斜变,反映了α - gpdhf等位基因在极端纬度的增加。这种模式不受该基因座所在的In(2L)t倒置的影响,也不受α - gpdh假基因存在的影响,后者的存在在人群中普遍存在且高度可变。α - gpdh模式也独立于乙醇脱氢酶(Adh)位点等位酶频率的变化和Adh基因的两个长度多态性。这些结果表明,α - gpdh基因座的临床选择与澳大利亚东海岸的线性气候梯度部分或完全无关。
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引用次数: 12
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Genetical research
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