inbreeding

近亲繁殖
  • 文章类型: Journal Article
    本研究旨在估算斯洛伐克西门塔尔奶牛的平均近交系数,并评估近交对生产寿命的影响。所有家谱都包括可追溯到1914年的463,282只动物。使用软件CFC1.0计算家系中每只动物的近交系数。生产寿命长度(LPL)定义为从第一次产卵到剔除的时间(天),死亡,或审查。使用Weibull比例风险模型计算并检验了近亲繁殖对生产寿命的影响。平均近亲繁殖系数,离散代当量的平均数量,近交动物的平均最长祖先路径分别为0.01、6.59和13.08。虽然从1995年出生年份(F=1.50%)到2001年(F=0.59%),近亲繁殖的平均系数下降最大,从2003年开始,人口近亲繁殖的趋势有所增加。使用生存分析证实了近亲繁殖对西门塔尔牛生产寿命的影响微弱但显着。
    This study aimed to estimate the average inbreeding coefficient in Slovak Simmental dairy cattle and evaluate the effect of inbreeding on the length of productive life. All pedigrees included 463,282 animals dating back to 1914. The inbreeding coefficients for each animal in the pedigree were computed using the software CFC 1.0. Length of productive life (LPL) was defined as the time (days) from the first calving to culling, death, or censoring. The influence of inbreeding on the length of productive life was calculated and tested using the Weibull proportional hazards model. The average inbreeding coefficient, the average number of discrete generation equivalents, and the average longest ancestral path for inbred animals were 0.01, 6.59, and 13.08, respectively. While the largest decrease in the mean coefficient of inbreeding was observed from the year of birth 1995 (F = 1.50%) to 2001 (F = 0.59%), an increasing trend of inbreeding in the population was found from 2003 onwards. A weak but significant effect of inbreeding on the length of productive life of Simmental cows was confirmed using survival analysis.
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  • 文章类型: Journal Article
    丁狗来自古老的犬科动物谱系,起源于东亚,大约8000-11,000年BP。作为澳大利亚最大的陆地捕食者,野狗发挥着重要的生态作用。一个小,受保护的人口存在于被列为世界遗产的近海岛屿上,K\'gari(以前的弗雷泽岛)。由于遗传多样性低和近交水平高,人们对金鸡在金鸡上的持久性的担忧有所增加。然而,该人群缺乏全基因组序列数据.这里,我们包括了五个新的K\'garidingos的全基因组序列。我们分析了从澳大利亚大陆和K'gari采样的18种全基因组序列,以评估其人口统计学历史的基因组后果。纯合性(ROH)的长(>1Mb)运行-近亲繁殖的指标-在所有采样的野狗中都升高。然而,K\'garidingoes显示出明显更高水平的非常长的ROH(>5Mb),为小种群提供基因组证据,隔离,近亲繁殖,和强大的创始人效应。我们的研究结果表明,尽管目前的近亲繁殖水平,Kgari群体正在清除强烈有害的突变,which,在人口规模没有进一步减少的情况下,尽管遗传多样性和隔离性低,但仍可能促进小种群的持续存在。然而,可能很少甚至没有清除轻度有害的等位基因,这可能会产生重要的长期后果,并应通过保护和管理计划加以考虑。
    Dingoes come from an ancient canid lineage that originated in East Asia around 8,000 to 11,000 years BP. As Australia\'s largest terrestrial predator, dingoes play an important ecological role. A small, protected population exists on a world heritage listed offshore island, K\'gari (formerly Fraser Island). Concern regarding the persistence of dingoes on K\'gari has risen due to their low genetic diversity and elevated inbreeding levels. However, whole-genome sequence data is lacking from this population. Here, we include five new whole-genome sequences of K\'gari dingoes. We analyze a total of 18 whole-genome sequences of dingoes sampled from mainland Australia and K\'gari to assess the genomic consequences of their demographic histories. Long (>1 Mb) runs of homozygosity (ROHs)-indicators of inbreeding-are elevated in all sampled dingoes. However, K\'gari dingoes showed significantly higher levels of very long ROH (>5 Mb), providing genomic evidence for small population size, isolation, inbreeding, and a strong founder effect. Our results suggest that, despite current levels of inbreeding, the K\'gari population is purging strongly deleterious mutations, which, in the absence of further reductions in population size, may facilitate the persistence of small populations despite low genetic diversity and isolation. However, there may be little to no purging of mildly deleterious alleles, which may have important long-term consequences, and should be considered by conservation and management programs.
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  • 文章类型: Journal Article
    男性通常根据社会背景(即精子引发反应)战略性地调整可用精子的数量,但目前尚不清楚环境和遗传因素如何影响这种调整。在淡水生态系统中,高环境温度通常会导致孤立的较热水池,在其中发生近亲繁殖。较高的水温和近亲繁殖会损害鱼类的发育,可能会破坏精子的生产。我们使用孔雀鱼(Poeciliareticulata)来研究发育温度(26°C,30°C)和雄性近交状态(近交,远交)影响他们的精子启动反应。我们还测试了精子启动是否受到雌性是否是亲戚(姐妹)以及她是否近交或远交的影响。饲养温度没有影响;仅男性近亲繁殖状态就决定了对女性存在的可用精子数量,她的近亲繁殖状况,和她的亲密关系.近亲繁殖的雄性在不相关的情况下产生了更多的精子,远交雌性比没有雌性时更多。相反,近亲繁殖的雄性不会因雌性的存在或亲属关系而改变可用的精子数量。此外,当暴露于远交而非近交的无关雌性时,近交雄性产生的精子略多,但是当暴露于无关和相关的近交雌性时,没有区别。一起,当暴露于远交雌性时,仅在近交雄性中观察到精子引发反应。在我们的研究中,远交雌性比近交雌性大,这表明近交雄性有策略地将射精资源分配给状况更好的雌性。
    Males often strategically adjust the number of available sperm based on the social context (i.e. sperm priming response), but it remains unclear how environmental and genetic factors shape this adjustment. In freshwater ecosystems, high ambient temperatures often lead to isolated pools of hotter water in which inbreeding occurs. Higher water temperatures and inbreeding can impair fish development, potentially disrupting sperm production. We used guppies (Poecilia reticulata) to investigate how developmental temperature (26 °C, 30 °C) and male inbreeding status (inbred, outbred) influence their sperm priming response. We also tested if sperm priming was affected by whether the female was a relative (sister) and whether she was inbred or outbred. There was no effect of rearing temperature; male inbreeding status alone determined the number of available sperm in response to female presence, her inbreeding status, and her relatedness. Inbred males produced significantly more sperm in the presence of an unrelated, outbred female than when no female was present. Conversely, outbred males did not alter the number of sperm available in response to female presence or relatedness. Moreover, inbred males produced marginally more sperm when exposed to an unrelated female that was outbred rather than inbred, but there was no difference when exposed to an inbred female that was unrelated versus related. Together, a sperm priming response was only observed in inbred males when exposed to an outbred female. Outbred females in our study were larger than inbred females, suggesting that inbred males strategically allocated ejaculate resources toward females in better condition.
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  • 文章类型: Journal Article
    狗和人类之间数千年的悠久历史使它们处于考古和基因组研究的最前沿。尽管一直在努力,包括对古代狗和狼基因组的分析,关于它们的地理和时间起源仍然存在许多问题,以及导致当今品种多样性的微观进化过程。虽然古代基因组提供了有价值的信息,低覆盖深度和死后损坏严重阻碍了它们的使用,这通常会抑制自信的基因型调用。在本研究中,我们评估了古代狗和狼基因组的基因型估算,利用大型参考面板,可以提高古代基因组数据集提供的分辨率。通过将10个高覆盖率的古代和现代狗和狼基因组降至0.05-2x覆盖率,并比较估算基因型和高覆盖率基因型之间的一致性,来评估估算准确性。我们还测量了归因对主成分分析(PCA)和纯合性运行(ROH)的影响。我们的发现表明,对于覆盖率低至0.5x的狗和低至1.0x的狼,归因准确性很高(R2>0.9)。然后,我们估算了81个已发表的古代狗和狼基因组的全球数据集,除了九只新测序的中世纪和现代早期欧洲狗,评估在狗进化的最后一万年中近亲繁殖的变化。古代的狗和狼种群的近亲繁殖水平通常低于当今的个体,尽管在古代北极和欧洲的狗中也有一些例外。有趣的是,在古代和当今样本中保持低ROH密度的区域与嗅觉和免疫反应相关的基因显着相关。我们的研究表明,估算古代犬科动物基因组是一种可行的策略,可以使用以前仅限于高质量遗传数据的分析方法。
    The multi-millenia long history between dogs and humans has justly placed them at the forefront of archeological and genomic research. Despite ongoing efforts including the analysis of ancient dog and wolf genomes, many questions remain regarding their geographic and temporal origins, and the microevolutionary processes that led to the huge diversity of breeds today. Although ancient genomes provide valuable information, their use is significantly hindered by low depth of coverage and post-mortem damage, which often inhibits confident genotype calling. In the present study, we assess how genotype imputation of ancient dog and wolf genomes, utilising a large reference panel, can improve the resolution afforded by ancient genomic datasets. Imputation accuracy was evaluated by down-sampling 10 high coverage ancient and modern dog and wolf genomes to 0.05-2x coverage and comparing concordance between imputed and high coverage genotypes. We also measured the impact of imputation on principal component analyses (PCA) and runs of homozygosity (ROH). Our findings show high (R2 > 0.9) imputation accuracy for dogs with coverage as low as 0.5x and for wolves as low as 1.0x. We then imputed a worldwide dataset of 81 published ancient dog and wolf genomes, in addition to nine newly sequenced medieval and early modern period European dogs, to assess changes in inbreeding during the last 10,000 years of dog evolution. Ancient dog and wolf populations generally exhibited lower inbreeding levels than present-day individuals, though with some exceptions occurring in ancient Arctic and European dogs. Interestingly, regions with low ROH density maintained across ancient and present-day samples were significantly associated with genes related to olfaction and immune response. Our study indicates that imputing ancient canine genomes is a viable strategy that allows for the use of analytical methods previously limited to high-quality genetic data.
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  • 文章类型: Journal Article
    操纵基因雄性不育保持者(MGM)系统,下一代杂交种子技术,能够从基因雄性不育(GMS)品系有效生产可分类的种子。然而,在商业玉米自交系中实施稳健的MGM系统需要稳定的转化,基因型特异性和费力的过程。本研究旨在将MGM技术整合到商业玉米自交系Z372中,开发GMS和MGM系。我们使用MGM系ZC01-3A-7,它包含MS26ΔE5编辑器T-DNA和MGMT-DNA,先前在高度可转化的ZC01受体植物中建立。通过与Z372的杂交和回交的组合,我们使用MS26ΔE5编辑器T-DNA构建体中的体内CRISPR/Cas9活性靶向Z372基因组内的育性基因Ms26进行突变。这种方法有助于Ms26基因座的精确编辑,最小化与Ms26突变相关的连锁阻力。在BC2F2世代中,全基因组SNP分析对GMS的回收率为98.74%,对MGM的回收率为96.32%。重要的是,具有ms26ΔE5突变的Z372-GMS系是非转基因的,避免联动阻力,展示生产准备情况。这项研究代表了玉米育种的重大进展,能够快速生成GMS和MGM品系,以实现高效的杂交种子生产。
    The Manipulated Genic Male Sterile Maintainer (MGM) system, a next-generation hybrid seed technology, enables efficient production of sortable seeds from genic male sterile (GMS) lines. However, implementing robust MGM systems in commercial maize inbred lines requires stable transformation, a genotype-specific and laborious process. This study aimed to integrate MGM technology into the commercial maize inbred line Z372, developing both GMS and MGM lines. We utilized the MGM line ZC01-3A-7, which contains the MS26ΔE5 editor T-DNA and MGM T-DNA, previously established in the highly transformable ZC01 recipient plants. Through a combination of crossing and backcrossing with Z372, we targeted the fertility gene Ms26 within the Z372 genome for mutation using the in vivo CRISPR/Cas9 activity within the MS26ΔE5 editor T-DNA construct. This approach facilitated precise editing of the Ms26 locus, minimizing linkage drag associated with the Ms26 mutation. Whole-genome SNP analysis achieved a 98.74% recovery rate for GMS and 96.32% for MGM in the BC2F2 generation. Importantly, the Z372-GMS line with the ms26ΔE5 mutation is non-transgenic, avoiding linkage drag and demonstrating production readiness. This study represents a significant advancement in maize breeding, enabling the rapid generation of GMS and MGM lines for efficient hybrid seed production.
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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
    近亲繁殖抑郁症,由于近亲交配导致后代健康的丧失,通常对个体表现和群体生存能力有害。我们调查了鸟岛南极海豹(Arctocalusgazella)种群减少的近亲繁殖效应,南乔治亚。这里,局部变暖降低了海豹主食的可用性,南极磷虾,导致对近交后代的选择强度暂时增加,越来越多的人无法招募到成年繁殖人群中。然而,尚不清楚选择是在断奶时营养独立之前还是之后进行。因此,我们使用了885只幼崽及其母亲的微卫星数据,和来自98个母子对的SNP阵列数据,量化个体和母体近亲繁殖对三个重要新生儿健康特征的影响:出生质量,生存和成长。我们没有发现后代或母本近亲繁殖对这些性状的任何明显或一致的影响。这表明,在断奶和招募之间的时间窗口中,选择将近交系个体从种群中过滤为少年。我们的研究将重点放在了一个鲜为人知的生活史阶段,并强调了了解幼年大足动物面临的生态和威胁的重要性。
    Inbreeding depression, the loss of offspring fitness due to consanguineous mating, is generally detrimental for individual performance and population viability. We investigated inbreeding effects in a declining population of Antarctic fur seals (Arctocephalus gazella) at Bird Island, South Georgia. Here, localised warming has reduced the availability of the seal\'s staple diet, Antarctic krill, leading to a temporal increase in the strength of selection against inbred offspring, which are increasingly failing to recruit into the adult breeding population. However, it remains unclear whether selection operates before or after nutritional independence at weaning. We therefore used microsatellite data from 885 pups and their mothers, and SNP array data from 98 mother-offspring pairs, to quantify the effects of individual and maternal inbreeding on three important neonatal fitness traits: birth mass, survival and growth. We did not find any clear or consistent effects of offspring or maternal inbreeding on any of these traits. This suggests that selection filters inbred individuals out of the population as juveniles during the time window between weaning and recruitment. Our study brings into focus a poorly understood life-history stage and emphasises the importance of understanding the ecology and threats facing juvenile pinnipeds.
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  • 文章类型: Journal Article
    高繁殖力水产养殖物种的生产性状选择性育种取得了相对较快的成功。发现与选择相关的遗传变化是理解适应性的重要目标,也可以促进更好地预测所选菌株逃离水产养殖场的可能性。这里,我们假设驯化是由培养中的无意选择引起的遗传变化。我们的前提是标准化培养方案在独立菌株之间产生平行驯化效应。使用东部牡蛎作为模型和新开发的600KSNP阵列,这项研究测试了多个独立选择系与其祖先野生种群相比的平行驯化效果。在合并的选定菌株(培养物中1-17代)和组合的所有野生祖先样品之间进行单一对比。种群结构分析表明,分化的等级顺序为[野生-野生]<[野生-培养]<[培养-培养]。用于平行适应圈养环境的基因组扫描将两种方法上不同的异常值测试应用于野生与选定菌株的对比,并鉴定了总共1174个候选SNP。对比野生菌株和选定菌株揭示了驯化在基因组分化方面的早期进化后果,常设遗传多样性,有效人口规模,亲缘关系,纯合性谱的运行,和全基因组连锁不平衡模式。随机森林用于鉴定37个异常SNP,这些SNP在大型野生牡蛎和选定牡蛎之间具有最大的区分能力。异常SNPs位于富含细胞骨架功能的基因中,暗示在幼体培养或高密度设置中无意选择下可能的性状。这项研究记录了基于孵化场的东部牡蛎种植引起的快速基因组变化,在独立的水产养殖菌株中平行识别响应驯化的候选基因座,并为监测农场和野生牡蛎之间的杂交提供了潜在有用的基因组资源。
    Selective breeding for production traits has yielded relatively rapid successes with high-fecundity aquaculture species. Discovering the genetic changes associated with selection is an important goal for understanding adaptation and can also facilitate better predictions about the likely fitness of selected strains if they escape aquaculture farms. Here, we hypothesize domestication as a genetic change induced by inadvertent selection in culture. Our premise is that standardized culture protocols generate parallel domestication effects across independent strains. Using eastern oyster as a model and a newly developed 600K SNP array, this study tested for parallel domestication effects in multiple independent selection lines compared with their progenitor wild populations. A single contrast was made between pooled selected strains (1-17 generations in culture) and all wild progenitor samples combined. Population structure analysis indicated rank order levels of differentiation as [wild - wild] < [wild - cultured] < [cultured - cultured]. A genome scan for parallel adaptation to the captive environment applied two methodologically distinct outlier tests to the wild versus selected strain contrast and identified a total of 1174 candidate SNPs. Contrasting wild versus selected strains revealed the early evolutionary consequences of domestication in terms of genomic differentiation, standing genetic diversity, effective population size, relatedness, runs of homozygosity profiles, and genome-wide linkage disequilibrium patterns. Random Forest was used to identify 37 outlier SNPs that had the greatest discriminatory power between bulked wild and selected oysters. The outlier SNPs were in genes enriched for cytoskeletal functions, hinting at possible traits under inadvertent selection during larval culture or pediveliger setting at high density. This study documents rapid genomic changes stemming from hatchery-based cultivation of eastern oysters, identifies candidate loci responding to domestication in parallel among independent aquaculture strains, and provides potentially useful genomic resources for monitoring interbreeding between farm and wild oysters.
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  • 文章类型: Journal Article
    当一个群体是孤立的,由很少的个体组成时,遗传漂变是最重要的进化力量,导致遗传多样性的丧失。近亲繁殖也可能发生,产生了血统相同的基因组区域,表现为纯合性(ROHs)和隐性性状的表达。同样,通过比较受影响和未受影响的个体之间的固定SNP和不同的单倍型,可以揭示感兴趣性状的潜在基因。圣皮埃尔和密克隆群岛上的白尾鹿(Odocoileusvirginianus)种群(SPM,法国)的白血病和错牙合发生率很高,两者都被认为是遗传缺陷;在佛罗里达群岛(美国)上,鹿的体型较小,多基因性状。在这里,我们旨在重建岛屿人口统计学,并在伪病例对照设计中鉴定与这些性状相关的基因。与大陆鹿相比,这两个岛屿种群的基因组多样性水平降低,有害突变的积累;关键鹿的全基因组差异也很大。关键鹿表现出更高的近亲繁殖水平,但不再是ROHs,与长期隔离一致。我们在ROHs中发现了多个性状相关基因,包括与色素沉着变化有关的LAMTOR2,和与颅面异常有关的NPVF。我们连接ROHs的混合方法,固定的SNP和单倍型与关键鹿中大量(〜50)的先验体型候选基因相匹配。这套生物标志物和候选基因应该被证明对人口监测有用,注意到所有三种表型都显示出与复杂性状和非孟德尔遗传一致的模式。
    When a population is isolated and composed of few individuals, genetic drift is the paramount evolutionary force and results in the loss of genetic diversity. Inbreeding might also occur, resulting in genomic regions that are identical by descent, manifesting as runs of homozygosity (ROHs) and the expression of recessive traits. Likewise, the genes underlying traits of interest can be revealed by comparing fixed SNPs and divergent haplotypes between affected and unaffected individuals. Populations of white-tailed deer (Odocoileus virginianus) on islands of Saint Pierre and Miquelon (SPM, France) have high incidences of leucism and malocclusions, both considered genetic defects; on the Florida Keys islands (USA) deer exhibit smaller body sizes, a polygenic trait. Here we aimed to reconstruct island demography and identify the genes associated with these traits in a pseudo case-control design. The two island populations showed reduced levels of genomic diversity and a build-up of deleterious mutations compared to mainland deer; there was also significant genome-wide divergence in Key deer. Key deer showed higher inbreeding levels, but not longer ROHs, consistent with long-term isolation. We identified multiple trait-related genes in ROHs including LAMTOR2 which has links to pigmentation changes, and NPVF which is linked to craniofacial abnormalities. Our mixed approach of linking ROHs, fixed SNPs and haplotypes matched a high number (~50) of a-priori body size candidate genes in Key deer. This suite of biomarkers and candidate genes should prove useful for population monitoring, noting all three phenotypes show patterns consistent with a complex trait and non-Mendelian inheritance.
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  • 文章类型: Journal Article
    全球气候变化增加了对生物多样性丧失的担忧。然而,许多关键的保护问题仍需进一步研究,包括人口统计历史,有害的突变负荷,适应性进化,和推定的内向。在这里,我们产生了濒危的中国榛子的第一个染色体水平基因组,中国珊瑚,并将基因组特征与其同胞广泛分布的C.kwechowensis-C.进行了比较。云南情结。我们发现了所有Corylus物种的大型基因组重排,并确定了可能参与适应的物种特异性扩展基因家族。种群基因组学表明,中国金丝雀和中国金丝雀。云南复合体分为两个遗传谱系,形成一致的西南-北方分化模式。自上新世晚期以来,这两个物种的西南狭窄谱系的种群规模一直在减少,而广泛的北方血统保持稳定(C.中国)或甚至已经从人口瓶颈中恢复过来(C.kwechowensis-C.云南复合体)在第四纪。与C.kwechowensis-C.比较云南情结,C.chinensis显示出明显较低的基因组多样性和较高的近交水平。然而,C.chinensis携带的有害突变明显少于C.kwechowensis-C.云南情结,因为更有效的清除选择减少了纯合变体的积累。我们还在不同谱系中检测到正向选择和适应性基因渗入的信号,这促进了有利变体的积累和局部适应的形成。因此,两种类型的选择和外源基因渗入都可能减轻近亲繁殖,并促进了C.chinensis的生存和持久性。总的来说,我们的研究提供了对谱系分化的关键见解,本地适应,以及未来恢复濒危树木的潜力。
    Global climate change has increased concerns regarding biodiversity loss. However, many key conservation issues still required further research, including demographic history, deleterious mutation load, adaptive evolution, and putative introgression. Here we generated the first chromosome-level genome of the endangered Chinese hazelnut, Corylus chinensis, and compared the genomic signatures with its sympatric widespread C. kwechowensis-C. yunnanensis complex. We found large genome rearrangements across all Corylus species and identified species-specific expanded gene families that may be involved in adaptation. Population genomics revealed that both C. chinensis and the C. kwechowensis-C. yunnanensis complex had diverged into two genetic lineages, forming a consistent pattern of southwestern-northern differentiation. Population size of the narrow southwestern lineages of both species have decreased continuously since the late Miocene, whereas the widespread northern lineages have remained stable (C. chinensis) or have even recovered from population bottlenecks (C. kwechowensis-C. yunnanensis complex) during the Quaternary. Compared with C. kwechowensis-C. yunnanensis complex, C. chinensis showed significantly lower genomic diversity and higher inbreeding level. However, C. chinensis carried significantly fewer deleterious mutations than C. kwechowensis-C. yunnanensis complex, as more effective purging selection reduced the accumulation of homozygous variants. We also detected signals of positive selection and adaptive introgression in different lineages, which facilitated the accumulation of favorable variants and formation of local adaptation. Hence, both types of selection and exogenous introgression could have mitigated inbreeding and facilitated survival and persistence of C. chinensis. Overall, our study provides critical insights into lineage differentiation, local adaptation, and the potential for future recovery of endangered trees.
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