kinship

亲属关系
  • 文章类型: Journal Article
    全基因组古代DNA分析的出现彻底改变了我们对史前社会的理解。然而,由于分析古代DNA的挑战,研究这些群体的生物相关性需要量身定制的方法。READv2,最广泛使用的工具的优化Python3实现,解决这些挑战,同时在速度和准确性方面超越其前身。对于足够的数据量,它可以分类到三级亲缘关系,并区分两种类型的一级亲缘关系,完整的兄弟姐妹和父母后代。READv2使用户友好,高效,和生物相关性的细微差别分析,有助于更深入地了解过去的社会结构。
    The advent of genome-wide ancient DNA analysis has revolutionized our understanding of prehistoric societies. However, studying biological relatedness in these groups requires tailored approaches due to the challenges of analyzing ancient DNA. READv2, an optimized Python3 implementation of the most widely used tool for this purpose, addresses these challenges while surpassing its predecessor in speed and accuracy. For sufficient amounts of data, it can classify up to third-degree relatedness and differentiate between the two types of first-degree relatedness, full siblings and parent-offspring. READv2 enables user-friendly, efficient, and nuanced analysis of biological relatedness, facilitating a deeper understanding of past social structures.
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  • 文章类型: Journal Article
    背景:内蒙古绒山羊(IMCG),以其卓越的羊绒品质而闻名,是中国本土山羊品种,经过长时间的自然和人工选择而发展起来。然而,最近,由于引入世界性山羊品种和缺乏适当的品种保护系统,IMCG的遗传资源受到了重大威胁。
    结果:为了评估IMCG的保护效果并有效保存和利用纯种种质资源,这项研究分析了遗传多样性,亲属关系,家庭结构,并利用来自225个随机选择的个体的重新测序数据对IMCG进行近亲繁殖,这些个体使用Plink(v.1.90)进行分析,GCTA(v.1.94.1),和R(v.4.2.1)软件。通过质量控制,从225名个体获得的34,248,064个SNP位点中总共筛选出12,700,178个高质量SNP。平均次要等位基因频率(MAF),多态信息含量(PIC),香农信息指数(SHI)分别为0.253、0.284和0.530。平均观察杂合度(Ho)和平均期望杂合度(He)分别为0.355和0.351。通过状态距离矩阵和基因组关系矩阵对身份的分析表明,大多数个体的遗传距离和遗传关系都很远,近交系数低。家庭结构分析确定了23只公羊中的10个家庭。在225个个体中总共鉴定了14,109个纯合性(ROH),平均ROH长度为1014.547kb。平均近亲繁殖系数,根据ROH计算,总人口为0.026,特别是23只公羊中的0.027,表明保守人口中近亲繁殖的水平较低。
    结论:IMCG表现出中等多态性和低水平的近亲繁殖发生在有限数量的个体中。同时,有必要防止血统的流失,以保证IMCGs种质资源的永存。
    BACKGROUND: Inner Mongolia cashmere goat (IMCG), renowned for its superior cashmere quality, is a Chinese indigenous goat breed that has been developed through natural and artificial selection over a long period. However, recently, the genetic resources of IMCGs have been significantly threatened by the introduction of cosmopolitan goat breeds and the absence of adequate breed protection systems.
    RESULTS: In order to assess the conservation effectiveness of IMCGs and efficiently preserve and utilize the purebred germplasm resources, this study analyzed the genetic diversity, kinship, family structure, and inbreeding of IMCGs utilizing resequencing data from 225 randomly selected individuals analyzed using the Plink (v.1.90), GCTA (v.1.94.1), and R (v.4.2.1) software. A total of 12,700,178 high-quality SNPs were selected through quality control from 34,248,064 SNP sites obtained from 225 individuals. The average minor allele frequency (MAF), polymorphic information content (PIC), and Shannon information index (SHI) were 0.253, 0.284, and 0.530, respectively. The average observed heterozygosity (Ho) and the average expected heterozygosity (He) were 0.355 and 0.351, respectively. The analysis of the identity by state distance matrix and genomic relationship matrix has shown that most individuals\' genetic distance and genetic relationship are far away, and the inbreeding coefficient is low. The family structure analysis identified 10 families among the 23 rams. A total of 14,109 runs of homozygosity (ROH) were identified in the 225 individuals, with an average ROH length of 1014.547 kb. The average inbreeding coefficient, calculated from ROH, was 0.026 for the overall population and 0.027 specifically among the 23 rams, indicating a low level of inbreeding within the conserved population.
    CONCLUSIONS: The IMCGs exhibited moderate polymorphism and a low level of kinship with inbreeding occurring among a limited number of individuals. Simultaneously, it is necessary to prevent the loss of bloodline to guarantee the perpetuation of the IMCGs\' germplasm resources.
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  • 文章类型: Journal Article
    蚕豆是一种重要的豆类作物。蚕豆基因型之间的遗传多样性对于目标性状的遗传改良非常重要。本研究使用了一组来自埃及的128种咖啡豆基因型来研究遗传多样性和种群结构。使用单引物富集技术(SPET)对128种基因型进行基因分型,过滤后产生一组6759个SNP标记。SNP标记分布在所有染色体上,范围从822延伸(Chr。6)至1872年(Chr.1)。SNP标记具有广泛的多态性信息含量(PIC),基因多样性(GD),和次要等位基因频率。种群结构分析将埃及蚕豆种群分为五个亚群。在所有基因型中发现了相当大的遗传距离,范围从0.1到0.4。在这项研究中突出了高度不同的基因型,基因型之间的遗传距离范围为0.1和0.6。此外,研究了连锁不平衡的结构,分析表明,埃及蚕豆种群中的LD水平较低。在基因组和染色体水平观察到缓慢的LD衰减。有趣的是,单倍型区块的分布存在于每个染色体中,单倍型区块的数量为65(Chr。4)至156(Chr。1).迁移和遗传漂移是埃及蚕豆种群LD低的主要原因。这项研究的结果揭示了埃及蚕豆作物遗传改良的可能性,并进行了遗传关联分析,以确定与目标性状相关的候选基因(例如蛋白质含量,粮食产量,等。)在这个面板中。
    Faba bean is an important legume crop. The genetic diversity among faba bean genotypes is very important for the genetic improvement of target traits. A set of 128 fab bean genotypes that are originally from Egypt were used in this study to investigate the genetic diversity and population structure. The 128 genotypes were genotyped using the Single Primer Enrichment Technology (SPET) by which a set of 6759 SNP markers were generated after filtration. The SNP markers were distributed on all chromosomes with a range extending from 822 (Chr. 6) to 1872 (Chr.1). The SNP markers had wide ranges of polymorphic information content (PIC), gene diversity (GD), and minor allele frequency. The analysis of population structure divided the Egyptian faba bean population into five subpopulations. Considerable genetic distance was found among all genotypes, ranging from 0.1 to 0.4. The highly divergent genotype was highlighted in this study and the genetic distance among genotypes ranged from 0.1 and 0.6. Moreover, the structure of linkage disequilibrium was studied, and the analysis revealed a low level of LD in the Egyptian faba bean population. A slow LD decay at the genomic and chromosomal levels was observed. Interestingly, the distribution of haplotype blocks was presented in each chromosome and the number of haplotype block ranged from 65 (Chr. 4) to 156 (Chr. 1). Migration and genetic drift are the main reasons for the low LD in the Egyptian faba bean population. The results of this study shed light on the possibility of the genetic improvement of faba bean crop in Egypt and conducting genetic association analyses to identify candidate genes associated with target traits (e.g. protein content, grain yield, etc.) in this panel.
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  • 文章类型: Journal Article
    梅罗芬吉安时期(公元5至8cc)是人口统计学时期,社会经济,文化,西欧的政治重组。这里,我们报告了30个人类骨骼遗骸的全基因组shot弹枪序列数据,这些遗骸来自Koksijde的沿海Merovingian晚期遗址(公元675至750年),与现今佛兰德斯的两个中世纪早期到晚期遗址的18个遗迹一起,比利时。我们发现了两个不同的祖先,一个与中世纪早期的英格兰和荷兰分享,而另一个,次要成分,反映了可能的大陆高雅血统。亲属关系分析发现,没有以精英墓葬为特征的大型家谱,而是揭示了主要祖先群体个体之间遥远关系的高度模块化。相比之下,>90%高雅血统的个体在样本个体之间没有亲属关系。人口结构和主要群体中高利人祖先程度的主要差异的证据,包括一对母女,表明他们埋葬时社区中正在进行的混合。同位素和遗传证据结合在一起支持了一个模型,代表一个成熟的沿海非精英社区,吸收了来自内陆人口的移民。Koksijde的主要墓葬群显示出丰富的>5cM长的共享等位基因间隔,附近的中世纪高地,暗示长期连续性,并暗示与英国类似,中世纪早期祖先的变化对佛兰德人口的遗传构成产生了重大而持久的影响。我们发现两个祖先群体在色素沉着和饮食相关变异中的等位基因频率差异很大,包括那些与乳糖酶持久性有关的,可能反映了祖先的变化,而不是当地的适应。
    The Merovingian period (5th to 8th cc AD) was a time of demographic, socioeconomic, cultural, and political realignment in Western Europe. Here, we report the whole-genome shotgun sequence data of 30 human skeletal remains from a coastal Late Merovingian site of Koksijde (675 to 750 AD), alongside 18 remains from two Early to Late Medieval sites in present-day Flanders, Belgium. We find two distinct ancestries, one shared with Early Medieval England and the Netherlands, while the other, minor component, reflecting likely continental Gaulish ancestry. Kinship analyses identified no large pedigrees characteristic to elite burials revealing instead a high modularity of distant relationships among individuals of the main ancestry group. In contrast, individuals with >90% Gaulish ancestry had no kinship links among sampled individuals. Evidence for population structure and major differences in the extent of Gaulish ancestry in the main group, including in a mother-daughter pair, suggests ongoing admixture in the community at the time of their burial. The isotopic and genetic evidence combined supports a model by which the burials, representing an established coastal nonelite community, had incorporated migrants from inland populations. The main group of burials at Koksijde shows an abundance of >5 cM long shared allelic intervals with the High Medieval site nearby, implying long-term continuity and suggesting that similarly to Britain, the Early Medieval ancestry shifts left a significant and long-lasting impact on the genetic makeup of the Flemish population. We find substantial allele frequency differences between the two ancestry groups in pigmentation and diet-associated variants, including those linked with lactase persistence, likely reflecting ancestry change rather than local adaptation.
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  • 文章类型: Journal Article
    人类群体中含有高浓度的有害遗传变异。这里,我们检验了非随机交配行为影响这些变体分布的假设,通过暴露在纯合状态,导致他们从人口基因库中清除。要做到这一点,我们为两对表现出不同联盟规则和近亲繁殖率的亚洲人群提供了全基因组测序数据,但有效人口规模相似。结果表明,近交交配率较高的种群不能更有效地清除有害变体。因此,清除在人群中效率较低,不同的交配方法会导致类似的突变负荷。关键词:净化选择,亲属关系,择偶,近亲繁殖,基因组学,有害变体,突变负载。
    Human populations harbor a high concentration of deleterious genetic variants. Here, we tested the hypothesis that non-random mating practices affect the distribution of these variants, through exposure in the homozygous state, leading to their purging from the population gene pool. To do so, we produced whole-genome sequencing data for two pairs of Asian populations exhibiting different alliance rules and rates of inbreeding, but with similar effective population sizes. The results show that populations with higher rates of inbred matings do not purge deleterious variants more efficiently. Purging therefore has a low efficiency in human populations, and different mating practices lead to a similar mutational load.
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  • 文章类型: Journal Article
    由于其多样化和独特的形态,对Peristediidae家族的系统修订仍然是一个悬而未决的问题。尽管使用线粒体基因组研究来全面了解鱼类的系统发育关系很受欢迎,需要包括周类鱼类的遗传数据。因此,本研究利用线粒体基因组分析的方法,探讨小附子科的线粒体基因组特征和家族内系统进化关系。因此,本研究旨在通过线粒体基因组分析来研究小附子科的系统发育关系。四逆境科(Peristedionliorhynchus,Satyrichthyswelchi,SatyrichthysRieffeli,研究了在东海收集的Scalicusamiscus)。4种鱼类的线粒体基因序列长度为16,533bp,16,526bp,16,527bp,和16,526个基点,分别。它们具有相同的线粒体结构,均由37个基因和一个控制区组成。大多数PCG使用ATG作为起始密码子,少数人使用GTG作为起始密码子。出现不完全终止密码子(TA/T)。来自四个物种的13个PCGs的AT-偏斜和GC-偏斜值均为负,GC-偏斜幅度大于AT-偏斜幅度。所有D臂病例均在tRNA-Ser(GCT)中发现。Ka/Ks比率分析表明13个PCG正在进行纯化选择。基于12个PCG(不包括ND6)序列,使用贝叶斯推理(BI)和最大似然(ML)方法构建系统发育树,进一步补充了对科鱼类的科学分类。根据分歧时间的结果,这四种鱼类在新生代早期有明显的差异,这表明当时的地质事件引起了物种分化和进化的高潮。
    The systematic revision of the family Peristediidae remains an unresolved issue due to their diverse and unique morphology. Despite the popularity of using mitochondrial genome research to comprehensively understand phylogenetic relationships in fish, genetic data for peristediid fish need to be included. Therefore, this study aims to investigate the mitochondrial genomic characteristics and intra-family phylogenetic relationships of Peristediidae by utilizing mitochondrial genome analysis. Therefore, this study aims to investigate the phylogenetic relationship of Peristediidae by utilizing mitochondrial genome analysis. The mitochondrial genome of four species of Peristediidae (Peristedion liorhynchus, Satyrichthys welchi, Satyrichthys rieffeli, and Scalicus amiscus) collected in the East China Sea was studied. The mitochondrial gene sequence lengths of four fish species were 16,533 bp, 16,526 bp, 16,527 bp, and 16,526 bp, respectively. They had the same mitochondrial structure and were all composed of 37 genes and one control region. Most PCGs used ATG as the start codon, and a few used GTG as the start codon. An incomplete stop codon (TA/T) occurred. The AT-skew and GC-skew values of 13 PCGs from four species were negative, and the GC-skew amplitude was greater than that of AT-skew. All cases of D-arm were found in tRNA-Ser (GCT). The Ka/Ks ratio analysis indicated that 13 PCGs were suffering purifying selection. Based on 12 PCGs (excluding ND6) sequences, a phylogenetic tree was constructed using Bayesian inference (BI) and maximum likelihood (ML) methods, providing a further supplement to the scientific classification of Peristediidae fish. According to the results of divergence time, the four species of fish had apparent divergence in the Early Cenozoic, which indicates that the geological events at that time caused the climax of species divergence and evolution.
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  • 文章类型: Journal Article
    动机:基因分型错误会影响基于下游单核苷酸多态性(SNP)的分析。模拟各种模式和错误水平可以帮助研究人员更好地理解由错误调用的基因型引起的潜在偏见。方法:我们开发并验证了vcferr,一种用于在变体调用格式(VCF)文件中概率模拟基因分型错误和错误的工具。我们演示了vcferr如何通过在模拟谱系中的样本中引入不同类型的不同水平的误差来解决研究问题,并评估亲属关系分析如何随着错误的种类和类型而降级。软件可用性:vcferr可通过PyPi(https://pypi.org/project/vcferr/)或conda(https://anaconda.org/bioconda/vcferr)进行安装。该软件是在MIT许可下发布的,源代码可在GitHub(https://github.com/signaturerescience/vcferr)上获得。
    Motivation: Genotyping error can impact downstream single nucleotide polymorphism (SNP)-based analyses. Simulating various modes and levels of error can help investigators better understand potential biases caused by miscalled genotypes. Methods: We have developed and validated vcferr, a tool to probabilistically simulate genotyping error and missingness in variant call format (VCF) files. We demonstrate how vcferr could be used to address a research question by introducing varying levels of error of different type into a sample in a simulated pedigree, and assessed how kinship analysis degrades as a function of the kind and type of error. Software availability: vcferr is available for installation via PyPi (https://pypi.org/project/vcferr/) or conda (https://anaconda.org/bioconda/vcferr). The software is released under the MIT license with source code available on GitHub (https://github.com/signaturescience/vcferr).
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  • 文章类型: Journal Article
    背景:大多数须鲸的生命周期涉及每年从低纬度繁殖地迁移到高纬度饲养地。在大多数物种中,传统上,这些迁移被认为是根据在生命的头几个月通过垂直社会学习获得的信息进行的,并单独进行。然而,最近的一些研究提出了一个更复杂的场景,特别是对于Balaenoptera属的物种。
    方法:这里,我们研究了24只从冰岛西部取食的鳍鲸沿baleen板生长轴的δ15N和δ13C值的变化,以深入研究其运动方式并确定个体之间的潜在关联。分析了baleen板的部分,了解了至少两个完整的迁移周期。我们通过两种不同的方法进行了聚类分析,只要有可能,我们对20个微卫星位点进行基因分型,以确定亲缘关系的潜在存在。
    结果:δ15N和δ13C值的结果与冬季繁殖地的分散策略一致。然而,尽管总体上有很大的可变性,对于δ15N和δ13C值,几对或几组没有血缘关系的个体连续两年显示出高度相似的同位素模式。
    结论:我们的结果表明,特别是,一些没有亲属关系的鲸鱼拥有相同的迁徙制度和目的地。我们假设这可以反映出:(i)分享特别有益的移民制度,和/或(Ii)个人之间的长期关联。
    BACKGROUND: The life cycle of most baleen whales involves annual migrations from low-latitude breeding grounds to high latitude feeding grounds. In most species, these migrations are traditionally considered to be carried out according to information acquired through vertical social learning during the first months of life and made individually. However, some recent studies have suggested a more complex scenario, particularly for the species of the Balaenoptera genus.
    METHODS: Here, we studied the variation of δ15N and δ13C values along the growth axis of the baleen plate from 24 fin whales feeding off western Iceland to delve into their pattern of movements and to identify potential associations between individuals. The segment of baleen plate analyzed informed about at least two complete migratory cycles. We performed cluster analyses through two different methodologies and, whenever possible, we genotyped 20 microsatellite loci to determine potential existence of kinship.
    RESULTS: Results of the of δ15N and δ13C values agree with a dispersion strategy in the winter breeding grounds. However, and despite the overall large variability, several pairs or groups of individuals with no kinship showed highly similar isotopic patterns for two consecutive years for both δ15N and δ13C values.
    CONCLUSIONS: Our results suggest that, notably, some whales without kinship share the same migratory regime and destinations. We hypothesize that this could reflect either: (i) the sharing of particularly beneficial migratory regimes, and/or (ii) long-term association between individuals.
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  • 文章类型: Journal Article
    哺乳动物之间合作行为的变化与群体的亲属关系密切相关。尽管已经研究了影响群体内平均遗传相关性的因素,导致不同类别亲属生产的因素仍未充分开发。这里,我使用数学模型来探索决定兄弟姐妹比例的因素,母亲同父异母的兄弟姐妹,同父异母的兄弟姐妹,和哺乳动物群体内的非兄弟姐妹。结果表明,父系同父异母兄弟姐妹的产量因男性高生殖偏斜和女性偏向的性别比例而增加,母亲同父异母的生产增加了高女性生殖偏斜和男性偏见的性别比例,并且有两种方法可以生产完整的兄弟姐妹:两种性别的高生殖偏斜(如在合作繁殖物种中看到的)或低生殖偏斜群体中的配对稳定(如在人类中看到的)。这些结果大致对应于在哺乳动物中观察到的兄弟姐妹组成的变化。
    Variation in cooperative behavior across mammals is strongly related to the kinship composition of groups. Although the factors affecting average genetic relatedness within groups have been studied, the factors that contribute to the production of different categories of kin remain underexplored. Here, I use a mathematical model to explore the factors that determine the proportion of full siblings, maternal half-siblings, paternal half-siblings, and non-siblings within mammal groups. The results suggest that the production of paternal half-siblings is increased by high male reproductive skew and a female-biased sex ratio, the production of maternal half-siblings is increased by high female reproductive skew and male-biased sex ratio, and that there are two routes to the production of full siblings: either high reproductive skew in both sexes (as seen in cooperatively breeding species) or pair-bond stability within groups of low reproductive skew (as seen in humans). These results broadly correspond to observed variation in sibling composition across mammals.
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  • 文章类型: Preprint
    大型家庭谱系通常用于整个医疗领域,进化,和法医遗传学。这些家谱是识别遗传疾病的工具,跟踪进化模式,并通过法医遗传鉴定建立家族关系。然而,缺乏软件来准确地模拟不同的谱系结构以及对应于家族谱系中那些个体的基因组。这限制了使用家谱的方法的基于模拟的评估。
    我们开发了一种名为py_ped_sim的基于python命令行的工具,该工具有助于模拟谱系结构和谱系中个体的基因组。py_ped_sim将谱系表示为有向无环图,实现标准谱系格式之间的转换和与正向种群遗传模拟器的整合,SLiM。值得注意的是,py_ped_sim允许模拟一组父母的不同数量的后代,有能力在几代人之间改变同胞规模的分布。我们还增加了亲子关系错误事件的模拟,它提供了一种模拟半兄弟姐妹关系的方法。我们通过将基因组模拟到不同的家族谱系结构上来验证我们软件的准确性,表明估计的亲属关系系数与期望值非常接近。
    py_ped_sim是一种用户友好且开源的解决方案,用于模拟谱系结构并进行谱系基因组模拟。它赋予医疗权力,法医,和进化遗传学研究人员更深入地了解家庭内遗传遗传和亲缘关系的动态。
    UNASSIGNED: Large-scale family pedigrees are commonly used across medical, evolutionary, and forensic genetics. These pedigrees are tools for identifying genetic disorders, tracking evolutionary patterns, and establishing familial relationships via forensic genetic identification. However, there is a lack of software to accurately simulate different pedigree structures along with genomes corresponding to those individuals in a family pedigree. This limits simulation-based evaluations of methods that use pedigrees.
    UNASSIGNED: We have developed a python command-line-based tool called py_ped_sim that facilitates the simulation of pedigree structures and the genomes of individuals in a pedigree. py_ped_sim represents pedigrees as directed acyclic graphs, enabling conversion between standard pedigree formats and integration with the forward population genetic simulator, SLiM. Notably, py_ped_sim allows the simulation of varying numbers of offspring for a set of parents, with the capacity to shift the distribution of sibship sizes over generations. We additionally add simulations for events of misattributed paternity, which offers a way to simulate half-sibling relationships. We validated the accuracy of our software by simulating genomes onto diverse family pedigree structures, showing that the estimated kinship coefficients closely approximated expected values.
    UNASSIGNED: py_ped_sim is a user-friendly and open-source solution for simulating pedigree structures and conducting pedigree genome simulations. It empowers medical, forensic, and evolutionary genetics researchers to gain deeper insights into the dynamics of genetic inheritance and relatedness within families.
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