Natural genetic variation in plant photosynthesis

Natural genetic variation in plant photosynthesis is a largely unexplored and as a result an underused genetic resource for crop improvement. Numerous studies show genetic variation in photosynthetic traits in both crop and wild species, and there is an increasingly detailed knowledge base concerning the interaction of photosynthetic phenotypes with their environment. The genetic factors that cause this variation remain largely unknown. Investigations into natural genetic variation in photosynthesis will provide insights into the genetic regulation of this complex trait. Such insights can be used to understand evolutionary processes that affect primary production, allow greater understanding of the genetic regulation of photosynthesis and ultimately increase the productivity of our crops.     

慈姑种质资源表型性状多样性分析

对保存在国家种质武汉水生蔬菜资源圃内慈姑41份地方品种、26份野生资源的遗传多样性进行了分析。结果表明:各性状多样性指数均较大,数量性状遗传多样性指数(1.840～2.039)高于质量性状(1.033～1.382),说明这些慈姑种质资源具有广泛的遗传多样性,且数量性状遗传变异更丰富;与慈姑种质资源产品相关的性状变异系数较高(24.16%～62.01%),利用现有资源选育球茎大、产量高的品种成为可能。基于慈姑资源13个表型性状的聚类分析,将67份慈姑种质资源分为3类,第Ⅰ类为野生资源类群,该类可进一步分为3个亚类,第Ⅱ类为栽培黄慈姑类群,第Ⅲ类为栽培乌慈姑类群,该类亦可进一步分为2个亚类,大类或亚类间亲缘关系较远,在慈姑杂交育种时宜选择类群间或者亚类间的材料为亲本。     

Generation of genetically modified mice by oocyte injection of androgenetic haploid embryonic stem cells

Haploid cells are amenable for genetic analysis. Recent success in the derivation of mouse haploid embryonic stem cells (haESCs) via parthenogenesis has enabled genetic screening in mammalian cells. However, successful generation of live animals from these haESCs, which is needed to extend the genetic analysis to the organism level, has not been achieved. Here, we report the derivation of haESCs from androgenetic blastocysts. These cells, designated as AG-haESCs, partially maintain paternal imprints, express classical ESC pluripotency markers, and contribute to various tissues, including the germline, upon injection into diploid blastocysts. Strikingly, live mice can be obtained upon injection of AG-haESCs into MII oocytes, and these mice bear haESC-carried genetic traits and develop into fertile adults. Furthermore, gene targeting via homologous recombination is feasible in the AG-haESCs. Our results demonstrate that AG-haESCs can be used as a genetically tractable fertilization agent for the production of live animals via injection into oocytes.     

The role of genetic and environmental factors in phenotypic variability of arterial pressure and body weight and their interconnection (a family study)

Contribution of genetic and environmental factors into phenotypic variability of blood pressure and body mass as well as into phenotypic correlation between these traits was defined. It was shown that additive genetic determinant is responsible for considerable level of blood pressure and body mass variability. Those common environmental factors are of importance which operate within the limits of one generation. Maternal effect of systolic and diastolic blood pressure variability is negligible. The correlation between systolic and diastolic blood pressure is determined both by environmental and genetic factors, whereas that between blood pressure and body mass is mediated by only environmental factors. The contribution of environmental factors into correlation between blood pressure and body mass lessens with age. The results obtained may be applied in development of population and individual programmes for preventing cardiovascular diseases.     

A computational approach for functional mapping of quantitative trait loci that regulate thermal performance curves

Whether and how thermal reaction norm is under genetic control is fundamental to understand the mechanistic basis of adaptation to novel thermal environments. However, the genetic study of thermal reaction norm is difficult because it is often expressed as a continuous function or curve. Here we derive a statistical model for dissecting thermal performance curves into individual quantitative trait loci (QTL) with the aid of a genetic linkage map. The model is constructed within the maximum likelihood context and implemented with the EM algorithm. It integrates the biological principle of responses to temperature into a framework for genetic mapping through rigorous mathematical functions established to describe the pattern and shape of thermal reaction norms. The biological advantages of the model lie in the decomposition of the genetic causes for thermal reaction norm into its biologically interpretable modes, such as hotter-colder, faster-slower and generalist-specialist, as well as the formulation of a series of hypotheses at the interface between genetic actions/interactions and temperature-dependent sensitivity. The model is also meritorious in statistics because the precision of parameter estimation and power of QTLdetection can be increased by modeling the mean-covariance structure with a small set of parameters. The results from simulation studies suggest that the model displays favorable statistical properties and can be robust in practical genetic applications. The model provides a conceptual platform for testing many ecologically relevant hypotheses regarding organismic adaptation within the Eco-Devo paradigm.     

Genetic diversity of Aquilegia (Ranunculaceae) species and cultivars assessed by AFLPs

Species of the genus Aquilegia are exceptionally diverse in their floral morphology and color, commonly known as columbine. They are widely planted ornamentals and are highly attractive for hummingbirds. However, little is known about their genetic diversity. We examined the genetic diversity of the species and cultivars using amplified fragment length polymorphism (AFLP) markers. Sixteen EcoRI/MseI AFLP primer combinations produced 327 informative polymorphic bands, with a mean of 20.4 bands scored per primer. Jaccard's coefficient of similarity varied from 0.61 to 0.93, indicative of high levels of genetic variation. Cluster analysis using the unweighted pair group method with arithmetic mean algorithm placed the 64 accessions into two main clusters, each divided into two sub-clusters. The AFLP variability was significantly associated with the geographic origins, as the Asian species and the North American species grouped into two distinct clusters. The genetic diversity found among Aquilegia demonstrated the potential value of Chinese germplasm for cultivar improvement and for widening the genetic basis of breeding programs and breeding material selection. We concluded that AFLPs are informative and can provide significant insights for genetic diversity research in columbine species.     

应用15个STRs揭示广西4个少数民族的遗传关系

为研究广西仫佬、毛南、苗和瑶族的15个短串联重复序列（STR）基因座的遗传多态性,探讨这4个民族群体的遗传差异和进化关系。通过PCR-STR及测序仪,检测了广西4个民族766例无关个体的15个STR位点基因频率的分布并比较各民族间的差异,计算遗传学参数、遗传距离和构建系统进化树。结果显示：仫佬、毛南、苗和瑶族的15个STR位点分别共检出135,134,148,145种等位基因和424,432,445,436种基因型;各民族的平均Ho〉0.7,累积DP,EPP和PIC均在0.99999以上;毛南族和苗族,瑶族和其他民族间在多数位点的基因频率分布上存在显著差异,而仫佬族和毛南族或苗族间在多数位点上不存在差异;4个民族在进化树上被分为两组,仫佬族和毛南族聚成一组,苗族和瑶族聚成另一组。说明广西仫佬、毛南、苗和瑶族的15个STR基因座具有高度的遗传多态性,实用价值较高,是一组可用于人类群体遗传学、法医学个体识别和亲子鉴定等研究的有力工具;4个民族STR的遗传差异性和遗传关系与他们的语言文化和民族历史基本一致。     

Same-Sex Twin Pair Phenotypic Correlations are Consistent with Human <Emphasis Type="Italic">Y</Emphasis> Chromosome Promoting Phenotypic Heterogeneity

Junk DNA has been long appreciated as an evolutionary facilitator because it can participate in the causation of genetic variation such as chromosome rearrangements and can be exapted into coding or regulatory elements. Recently, it has been proposed that junk DNA variation within natural populations indirectly causes a phenotypic heterogeneity that subsequently promotes genetic capacitance, i.e., the random fluctuation of genetic variation. Junk DNA role as capacitor might drive population traits such as sexual dimorphism, spatiotemporal dynamics, or genetic diversification leading into speciation. Whether the human species also showed junk DNA-based capacitance manifested as a junk DNA-dependent phenotypic heterogeneity that contributed to the etiology and expression of diseases or the evolutionary history of human populations is intriguing. Because the human Y chromosome is highly enriched in junk DNA, humans are sexually dimorphic for the genomic content in junk DNA. Thus, it would be expected that junk DNA-based capacitance in humans were manifested as a sexual dimorphism for phenotypic heterogeneity. Here, I gather supporting evidence for the existence of a sexual dimorphism for putative junk DNA-based phenotypic heterogeneity by analyzing same-sex twin pairs phenotypic concordance.     

圈养小熊猫遗传多样性与种群遗传结构分析

小熊猫是亚洲特有的珍稀濒危动物,目前受到栖息地减少、片断化和人类活动干扰等威胁。中国圈养小熊猫已经有60 多年历史,约55 个机构曾经饲养过小熊猫,现今圈养数量有400 多只,评估小熊猫圈养种群的遗传多样性和遗传结构对科学维持圈养种群和保存遗传种质资源意义重大。本研究利用19 个微卫星座位,对中国境内11 个小熊猫圈养种群的116 只个体进行了遗传多样性评估及遗传结构分析。结果显示11 个种群都具有较高的遗传多样性,平均基因丰富度3.505 ± 1.033 (北京)至4.026 ± 1.219 (冕宁),期望杂合度0.631 ± 0.225(黄山)至0.782 ±0.171 (温岭)。其中福州和无锡种群极显著偏离Hardy-Weinberg 平衡。整个圈养群体内各个种群遗传分化系数为0.055,呈显著分化,表明11 个种群遗传分化水平较高。Bayesian 遗传聚类分析将11 个种群聚为三个遗传簇,与野生种群的遗传聚类结果一致。结论:小熊猫圈养种群与野生种群相比,同样具有较高的遗传多样性。因此,圈养小熊猫遗传管理的重点不再是引进野生个体充实圈养种群,应制订科学的繁殖计划,避免近交,从而维持圈养种群的遗传多样性。     

Unraveling the genetic component of systemic sclerosis

Systemic sclerosis (SSc) is a severe connective tissue disorder characterized by extensive fibrosis, vascular damage, and autoimmune events. During the last years, the number of genetic markers convincingly associated with SSc has exponentially increased. In this report, we aim to offer an updated review of the classical and novel genetic associations with SSc, analyzing the firmest and replicated signals within HLA and non-HLA genes, identified by both candidate gene and genome-wide association (GWA) studies. We will also provide an insight into the future perspectives and approaches that might shed more light into the complex genetic background underlying SSc. In spite of the remarkable advance in the field of SSc genetics during the last decade, the use of the new genetic technologies such as next generation sequencing (NGS), as well as the deep phenotyping of the study cohorts, to fully characterize the genetic component of this disease is imperative.     

线粒体遗传密码及基因组遗传密码的对称分析

病毒、细菌和真核生物的氨基酸编码都使用相同的遗传密码,表明它们可能有共同的来源。但人和牛的线粒体的遗传密码和基因组的遗传密码相比,出现以下不同;（1）ATA编码甲硫氮酸M而不是异亮氨酸I。（2）TGA不再是终止密码子X而编码色氨酸W。（3）AGA和AGG不再是精氨酸R的密码子而变为终止密码子X。应用高维空间拓扑分析的方法,对线粒体遗传密码和基因组遗传密码的6维编码空间进行对称性分析,得到如下结果：（1）线粒体遗传密码的起始密码子是2个而不是1个。（2）线粒体遗传密码的终止密码子是4个而不是3个。（3）线粒体遗传密码空间只有2、4、6三种偶数简并度而没1、3两种奇数简并度,表明其对称度较高。（4）线粒体遗传密码空间除丝氨酸S分成两个平行的子空间之外,终止密码子X亦分成两个平行的子空间,表明其连通度较低。（5）线粒体遗传密码一基因组遗传密码相比,共有3个简并平面出现变异,即：1001λλ（M和I）,011λ1λ（W和X）,以及1011λλ（S和X或S和R）。（6）基因组遗传密码的1、3两种奇数简并度可能来源于线粒体遗传密码的1001λλ平面和011λ1λ平面的对称性破缺。对线粒体遗传密码变异的生物学意义及遗传密码的起源进行了分析和讨论。     

A comparative study of egg recognition signature mixtures in Formica ants

Processing of information from the environment, such as assessing group membership in social contexts, is a major determinant of inclusive fitness. For social insects, recognizing brood origin is crucial for inclusive fitness in many contexts, such as social parasitism and kin conflicts within colonies. Whether a recognition signature is informative in kin conflicts depends on the extent of a genetic contribution into the cues. We investigated colony‐ and matriline‐specific variation in egg surface hydrocarbons in seven species of Formica ants. We show that chemical variance is distributed similarly to genetic variation, suggesting a significant genetic contribution to eggs odors in the genus. Significant among matriline components, and significant correlations between chemical and genetic similarity among individuals also indicate kin informative egg odors in several species. We suggest that egg odor surface variation could play a large role in within colony conflicts, and that a comparative method can reveal novel insight into communication of identity.     

苦玄参40个株系表型性状遗传多样性分析

植物遗传多样性一直以来是种质资源研究的热点。为揭示苦玄参栽培种质的遗传多样性,该研究从苦玄参常年栽培种中根据形态学性状差异选择40个株系,以产量、药效物质含量及茎、叶、花等形态学性状为指标,进行物种变异和遗传多样性分析,并对其进行聚类分析,获取各株系遗传亲缘关系。结果表明:苦玄参苷IA和IB含量的遗传变异系数较高,分别为24.225%和17.853%;遗传多样性指数高,分别为1.920和2.075。产量遗传变异系数较低,仅为3.637%,但遗传多样性指数较高,达到1.884。其余表型性状指标遗传变异系数均较高,其中花色高达127.794%。数值型性状具有较高的遗传多样性,均大于1,但描述型指标遗传多样性指标较低,均小于1。聚类分析可将供试材料分为4个大的类群:第Ⅰ类群共有7个株系,此类群产量性状及相关指标平均数较高;第Ⅱ类群有8个株系,茎节长度最长,其余指标中等偏下;第Ⅲ类群数量最多,有20个株系,各指标均较低;第Ⅳ类群有5个株系,苦玄参苷含量和产量均较高,综合指标比较优。相关分析结果表明,苦玄参苷IA的含量与叶缘性状具有显著相关,产量性状与茎节长度、一级分枝和末级分枝数具有极显著相关,选择优良种质应注重该4个性状的选择。该研究结果表明目前苦玄参栽培种具有广泛的变异和较高的遗传多样性,为苦玄参资源的利用提供了参考依据。     

Applications of congenic strains in the mouse

The sequencing of the human and the mouse genomes has shown that the chromosomes of these two species contain approximately 30,000 genes. The biological systems that can be studied in an individual or in a tissue result from complex interactions within this multitude of genes. Before describing these interactions, it is necessary to understand the function of each gene. In the mouse, congenic strains are developed to introduce a chromosomal segment in a given inbred genetic background. One can then compare the biological effects of different alleles at the same locus in the same genetic background or the effect of a given allele in different genetic backgrounds. One can also introduce into different congenic strains with the same genetic background genes which control a complex genetic trait, then combine these genes by appropriate crosses to study their interactions. Although the chromosomal segment transferred into a congenic strain usually contains up to several hundreds of genes, molecular markers can be used to reduce this number as well as the number of crosses required for the development of congenic strains.     

Evolution of the Genetic Code by Incorporation of Amino Acids that Improved or Changed Protein Function

Fifty years have passed since the genetic code was deciphered, but how the genetic code came into being has not been satisfactorily addressed. It is now widely accepted that the earliest genetic code did not encode all 20 amino acids found in the universal genetic code as some amino acids have complex biosynthetic pathways and likely were not available from the environment. Therefore, the genetic code evolved as pathways for synthesis of new amino acids became available. One hypothesis proposes that early in the evolution of the genetic code four amino acids—valine, alanine, aspartic acid, and glycine—were coded by GNC codons (N = any base) with the remaining codons being nonsense codons. The other sixteen amino acids were subsequently added to the genetic code by changing nonsense codons into sense codons for these amino acids. Improvement in protein function is presumed to be the driving force behind the evolution of the code, but how improved function was achieved by adding amino acids has not been examined. Based on an analysis of amino acid function in proteins, an evolutionary mechanism for expansion of the genetic code is described in which individual coded amino acids were replaced by new amino acids that used nonsense codons differing by one base change from the sense codons previously used. The improved or altered protein function afforded by the changes in amino acid function provided the selective advantage underlying the expansion of the genetic code. Analysis of amino acid properties and functions explains why amino acids are found in their respective positions in the genetic code.     

On the choice of genetic distance in spatial-genetic studies

We look at how to choose genetic distance so as to maximize the power of detecting spatial structure. We answer this question through analyzing two population genetic models that allow for a spatially structured population in a continuous habitat. These models, like most that incorporate spatial structure, can be characterized by a separation of timescales: the history of the sample can be split into a scattering and a collecting phase, and it is only during the scattering phase that the spatial locations of the sample affect the coalescence times. Our results suggest that the optimal choice of genetic distance is based upon splitting a DNA sequence into segments and counting the number of segments at which two sequences differ. The size of these segments depends on the length of the scattering phase for the population genetic model.     

Preventing the spread of malaria and dengue fever using genetically modified mosquitoes

In this candid interview, Anthony A. James explains how mosquito genetics can be exploited to control malaria and dengue transmission. Population replacement strategy, the idea that transgenic mosquitoes can be released into the wild to control disease transmission, is introduced, as well as the concept of genetic drive and the design criterion for an effective genetic drive system. The ethical considerations of releasing genetically-modified organisms into the wild are also discussed.     

The standard genetic code enhances adaptive evolution of proteins

The standard genetic code, by which most organisms translate genetic material into protein metabolism, is non-randomly organized. The Error Minimization hypothesis interprets this non-randomness as an adaptation, proposing that natural selection produced a pattern of codon assignments that buffers genomes against the impact of mutations. Indeed, on the average any given point mutation has a lesser effect on the chemical properties of the utilized amino acid than expected by chance. Might it also, however, be the case that the non-random nature of the code effects the rate of adaptive evolution? To investigate this, here we develop population genetic simulations to test the rate of adaptive gene evolution under different genetic codes. We identify two independent properties of a genetic code that profoundly influence the speed of adaptive evolution. Noting that the standard genetic code exhibits both, we offer a new insight into the effects of the "error minimizing" code: such a code enhances the efficacy of adaptive sequence evolution.