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
    在生活在一个雄性群体中的灵长类动物中,唯一的居住男性通常是群体不成熟的重要社会伙伴。对于这样的群体,然而,替换男性和随后的关系中断几乎是不可避免的。这里,我们描述了一个习惯性群体中未成熟的野生西部低地大猩猩的社会关系,那里有两个出生和八个移民不成熟的人与居民的银背生活在一起。我们记录了组成员之间5m的接近度,以此作为社交亲密关系的指标。我们发现,出生的不成熟者在银背5m内花费的时间比移民者多。一年后,银背和年轻移民之间的社交亲密关系急剧增加,但是这些值仍然低于出生不成熟的值。关于独立于母亲的发展,我们发现出生和移民未成熟之间没有显着差异。社会上喜欢的非母亲成熟的出生不成熟是silverback,而许多移民不成熟的人更喜欢一个先前与他们同居的成年姐姐。我们的结果表明,熟悉度可能是银背和不成熟之间社会亲密关系的重要决定因素,但1年的共同居住可能太短,无法建立足够的熟悉度。姐姐可能在将移民不成熟者同化为非出生群体中发挥了关键作用。尽管如此,不可忽视的是,银背和移民的不成熟形成了日常的接近。他对与未成熟移民共同居住的宽容可以被认为是一种生殖策略。
    In primates living in one-male groups, the sole resident male is often an important social partner for group immatures. For such groups, however, replacement of the male and subsequent disruptions of their relationships are almost inevitable. Here, we described social relationships of immature wild western lowland gorillas within a habituated group, where two natal and eight immigrant immatures lived with the resident silverback. We recorded 5 m proximities among group members as an indicator of social closeness. We found that natal immatures spent more time within 5 m of the silverback than immigrant ones. The social closeness between the silverback and the younger immigrant immatures sharply increased after 1 year, but these values were still below those of the natal immatures. Regarding the development of independence from the mother, we found no significant difference between natal and immigrant immatures. The socially preferred nonmother mature for natal immatures was the silverback, whereas many immigrant immatures preferred a paternal adult sister who had previously co-resided with them in a previous group. Our results suggest that familiarity may be an important determinant of the social closeness between the silverback and immatures, but 1 year of co-residence might be too short to construct sufficient familiarity. The paternal sister may have played a pivotal role in the assimilation of immigrant immatures into the non-natal group. Nonetheless, it is not negligible that the silverback and immigrant immatures formed day-to-day close proximities. His tolerance toward co-residence with immigrant immatures can be considered a reproductive tactic.
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  • 文章类型: Journal Article
    失去孩子的经历在世界范围内越来越不常见,但对于经历过孩子的父母来说,这同样是毁灭性的。这种现象的一个被忽视的方面是它的时机:失去父母的父母在哪个年龄失去孩子,这些失去的年龄是如何分布的?我们使用人口统计方法来探索1850-2000出生队列中18个国家/地区失去孩子的母亲年龄的平均值和变异性。我们发现儿童流失年龄的分布是双峰的,其中一个部分代表年轻后代死亡,另一个部分代表成年后代死亡。后代流失正在从一个相对常见的生活事件转变,主要由年轻母亲经历,在整个产妇生命历程中传播的罕见病例。此外,没有证据表明失去后代的年龄变异性趋同。这些结果促进了亲属关系的正式人口统计,并强调了在整个生命历程中支持失去亲人的父母的必要性。
    The experience of losing a child is increasingly uncommon worldwide but is no less devastating for parents who experience it. An overlooked aspect of this phenomenon is its timing: at which age do bereft parents lose a child and how are these ages at loss distributed? We use demographic methods to explore the mean and variability of maternal age at child loss in 18 countries for the 1850-2000 birth cohorts. We find that the distribution of age of child loss is bimodal, with one component representing young offspring deaths and another representing adult offspring deaths. Offspring loss is transitioning from being a relatively common life event, mostly experienced by young mothers, to a rare one spread throughout the maternal life course. Moreover, there is no evidence of convergence in the variability of age at offspring loss. These results advance the formal demography of kinship and underline the need to support bereaved parents across the life course.
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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
    亲属关系推断一直是法医遗传学中的一个主要问题,当没有先验假设并且多个个体之间的关系未知时,它仍有待解决。在这项研究中,我们使用大规模平行测序对46份谱系样本中的91个微单倍型进行了基因分型,并通过计算似然比(LR)推断了它们的相关性.根据模拟和真实数据,在存在和不存在相关性假设的情况下,采用不同的治疗方法.通过基于真实谱系样本计算谱系可能性来重建多个个体的谱系。结果表明,91MHs可以将二级亲属与无关个体区分开来。并且需要更高的多态性位点来区分二度或更远的亲戚与其他程度的关系,但是可以通过将搜索的可疑关系扩展到具有较低LR值的其他关系来获得正确的分类。如果他们密切相关,则可以成功重建具有未知关系的多个个体。我们的研究为没有先验假设的亲属关系推断提供了解决方案,并探讨了当多个个体的关系未知时进行谱系重建的可能性。
    Kinship inference has been a major issue in forensic genetics, and it remains to be solved when there is no prior hypothesis and the relationships between multiple individuals are unknown. In this study, we genotyped 91 microhaplotypes from 46 pedigree samples using massive parallel sequencing and inferred their relatedness by calculating the likelihood ratio (LR). Based on simulated and real data, different treatments were applied in the presence and absence of relatedness assumptions. The pedigree of multiple individuals was reconstructed by calculating pedigree likelihoods based on real pedigree samples. The results showed that the 91 MHs could discriminate pairs of second-degree relatives from unrelated individuals. And more highly polymorphic loci were needed to discriminate the pairs of second-degree or more distant relative from other degrees of relationship, but correct classification could be obtained by expanding the suspected relationship searched to other relationships with lower LR values. Multiple individuals with unknown relationships can be successfully reconstructed if they are closely related. Our study provides a solution for kinship inference when there are no prior assumptions, and explores the possibility of pedigree reconstruction when the relationships of multiple individuals are unknown.
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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
    DNA混合物是法医遗传学中常见的样本类型,并且我们通常假设在计算似然比(LR)时对混合物的贡献是不相关的。然而,涉及与相关贡献者混合的场景,比如在家庭谋杀或乱伦案件中,也可以遇到。与不相关贡献者的混合物相比,混合物中的亲缘关系将为推断贡献者数量(NOC)和构建概率基因分型模型带来额外的挑战.为了评估潜在的亲属关系对感兴趣的人(POI)的个人身份的影响,我们模拟了包含无关或相关贡献者(父母-子女,兄弟姐妹,和叔叔-侄子)以不同的混合比(对于2P:1:1、4:1、9:1和19:1;对于3P:1:1:1、2:1:1、5:4:1和10:5:1),并在MGI平台上使用MGIEasy签名鉴定文库制备试剂盒进行大规模平行测序(MPS)。此外,还对具有无关和相关贡献者的混合物进行了计算机模拟。在这项研究中,我们评估了1):MPS性能;2)多种遗传标记对确定混合物中相关贡献者的存在并推断NOC的影响;3)基于计算机混合谱的MAC(最大等位基因计数)和TAC(总等位基因计数)的概率分布;4)LR值的趋势,考虑了与相关和无关贡献者的混合物中的亲缘关系;5)LR值与基于长度和序列的STR基因型的趋势。结果表明,多种数量和类型的遗传标记对混合物中的亲缘关系和NOC推断有积极影响。POI的LR值强烈依赖于混合比。非亲属关系假设和正确亲属关系假设基本上不会影响主要POI的个体识别;正确的亲属关系假设产生了更保守的LR值;不正确的亲属关系假设并不一定导致POI个体识别的失败。然而,值得注意的是,这些考虑因素可能会导致次要贡献者的识别结果不确定。与基于长度的STR基因分型相比,使用基于序列的STR基因型增加了POI的个体识别能力,同时使用EuroForMix提高混合比推断的准确性。总之,MGIEasy签名识别库准备套件展示了强大的个人识别能力,这是一个可行的MPS小组,用于法医DNA混合物解释,是否涉及无关或相关的贡献者。
    DNA mixtures are a common sample type in forensic genetics, and we typically assume that contributors to the mixture are unrelated when calculating the likelihood ratio (LR). However, scenarios involving mixtures with related contributors, such as in family murder or incest cases, can also be encountered. Compared to the mixtures with unrelated contributors, the kinship within the mixture would bring additional challenges for the inference of the number of contributors (NOC) and the construction of probabilistic genotyping models. To evaluate the influence of potential kinship on the individual identification of the person of interest (POI), we conducted simulations of two-person (2 P) and three-person (3 P) DNA mixtures containing unrelated or related contributors (parent-child, full-sibling, and uncle-nephew) at different mixing ratios (for 2 P: 1:1, 4:1, 9:1, and 19:1; for 3 P: 1:1:1, 2:1:1, 5:4:1, and 10:5:1), and performed massively parallel sequencing (MPS) using MGIEasy Signature Identification Library Prep Kit on MGI platform. In addition, in silico simulations of mixtures with unrelated and related contributors were also performed. In this study, we evaluated 1): the MPS performance; 2) the influence of multiple genetic markers on determining the presence of related contributors and inferring the NOC within the mixture; 3) the probability distribution of MAC (maximum allele count) and TAC (total allele count) based on in silico mixture profiles; 4) trends in LR values with and without considering kinship in mixtures with related and unrelated contributors; 5) trends in LR values with length- and sequence-based STR genotypes. Results indicated that multiple numbers and types of genetic markers positively influenced kinship and NOC inference in a mixture. The LR values of POI were strongly dependent on the mixing ratio. Non- and correct-kinship hypotheses essentially did not affect the individual identification of the major POI; the correct kinship hypothesis yielded more conservative LR values; the incorrect kinship hypothesis did not necessarily lead to the failure of POI individual identification. However, it is noteworthy that these considerations could lead to uncertain outcomes in the identification of minor contributors. Compared to length-based STR genotyping, using sequence-based STR genotype increases the individual identification power of the POI, concurrently improving the accuracy of mixing ratio inference using EuroForMix. In conclusion, the MGIEasy Signature Identification Library Prep kit demonstrated robust individual identification power, which is a viable MPS panel for forensic DNA mixture interpretations, whether involving unrelated or related contributors.
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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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