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A chromosome-level reference genome for the common bed bug, Cimex lectularius, with identification of sex chromosomes. 普通臭虫(Cimex lectularius)的染色体级参考基因组,以及性染色体的鉴定。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-11-28 DOI: 10.1093/jhered/esae071
Lindsay S Miles, Richard Adams, Yannick Z Francioli, Daren C Card, Todd A Castoe, Warren Booth

The common bed bug, Cimex lectularius, is a globally distributed pest insect of medical, veterinary, and economic importance. Previous reference genome assemblies for this species were generated from short read sequencing data, resulting in a ~650 Mb composed of thousands of contigs. Here, we present a haplotype-resolved, chromosome-level reference genome, generated from an adult Harlen strain female specimen. Using PacBio long read and Omni-C proximity sequencing, we generated a 540 Mb genome with 15 chromosomes (13 autosomes and 2 sex chromosomes - X1X2) with an N50 > 30 Mb and BUSCO > 90%. Previous karyotyping efforts indicate an XY sex chromosome system, with 2n=26 and X1X1X2X2 females and X1X2Y males; however significant fragmentation of the X chromosome has also been reported. We further use whole genome resequencing data from males and females to identify the X1 and X2 chromosomes based on sex biases in coverage. This highly contiguous reference genome assembly provides a much-improved resource for identifying chromosomal genome architecture, and for interpreting patterns of urban outbreaks and signatures of selection linked to insecticide resistance.

普通臭虫(Cimex lectularius)是一种分布于全球的有害昆虫,在医疗、兽医和经济方面具有重要意义。以前该物种的参考基因组是由短读测序数据生成的,结果是由数千个等位基因组成的约 650 Mb 的参考基因组。在这里,我们展示了一个单体型解析的染色体级参考基因组,它是由一个成年哈伦株雌性标本生成的。利用 PacBio 长读数和 Omni-C 近似测序技术,我们生成了一个 540 Mb 的基因组,其中有 15 条染色体(13 条常染色体和 2 条性染色体 - X1X2),N50 > 30 Mb,BUSCO > 90%。之前的核型分析结果表明,性染色体系统为 XY,2n=26,雌性为 X1X1X2X2,雄性为 X1X2Y;但也有报道称 X 染色体存在明显的片段化。我们进一步利用雄性和雌性的全基因组重测序数据,根据覆盖范围的性别偏差来确定 X1 和 X2 染色体。这种高度连续的参考基因组组装为确定染色体基因组结构、解释城市疫情爆发模式以及与杀虫剂抗性相关的选择特征提供了一种改进的资源。
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引用次数: 0
Comparison of dN/dS ratios shows little evidence for faster-Z effect in Furcifer chameleons after controlling for gene-specific evolutionary rates. 对 dN/dS 比率的比较表明,在控制了基因特异性进化速度之后,几乎没有证据表明变色龙中存在快 Z 效应。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-11-22 DOI: 10.1093/jhered/esae070
Lucija Andjel, Lukáš Kratochvíl, Michail Rovatsos

The faster-X/Z effect hypothesis states that genes linked to X/Z chromosomes should accumulate mutations faster than autosomal genes. Although faster evolution of X/Z-linked genes has been reported in several plant and animal lineages, conflicting results have been reported in others. We examined the faster-Z effect in chameleons of the genus Furcifer, a lineage with differentiated ZZ/ZW chromosomes for at least 20 million years. We sequenced the genomes of four species of Furcifer chameleons in the Illumina platform and compared the substitution rates of synonymous and non-synonymous mutations and their ratios among autosomal, Z-specific, and pseudoautosomal protein-coding genes. The inclusion of two chameleon outgroups lacking the differentiated ZZ/ZW sex chromosomes allowed us to control for gene-specific evolutionary rates that might confound the testing of the faster-X/Z effect. Significant differences in evolutionary rates were found between autosomal, Z-specific, and pseudoautosomal genes of Furcifer chameleons. However, the inclusion of the outgroups with different sex chromosomes suggests that these genes had different evolutionary rates prior to their incorporation into the differentiated ZZ/ZW sex chromosomes of the Furcifer genus. The results highlight the need to control for differences in the evolutionary rates of individual genes when testing for the faster X/Z effect.

更快的 X/Z 效应假说认为,与 X/Z 染色体相连的基因积累突变的速度应快于常染色体基因。尽管有报道称X/Z连锁基因的进化速度在一些动植物系中更快,但在其他一些动植物系中却出现了相互矛盾的结果。我们研究了变色龙属(Furcifer)中的更快-Z效应,该物种的ZZ/ZW染色体已经分化了至少2000万年。我们在 Illumina 平台上对四个变色龙物种的基因组进行了测序,并比较了常染色体、Z-特异性和假常染色体蛋白编码基因中同义和非同义突变的替换率及其比例。由于变色龙外群中有两个变色龙缺乏分化的 ZZ/ZW 性染色体,因此我们可以控制基因特异性的进化率,因为这些进化率可能会干扰对较快 X/Z 效应的测试。我们发现,Furcifer 变色龙的常染色体基因、Z-特异性基因和假常染色体基因之间的进化速度存在显著差异。然而,将具有不同性染色体的外群包括在内表明,这些基因在并入毛皮变色龙属分化的 ZZ/ZW 性染色体之前具有不同的进化速度。这些结果突出表明,在检验更快的 X/Z 效应时,需要控制单个基因进化速度的差异。
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引用次数: 0
Plumage polymorphism in the black sparrowhawk (Accipiter melanoleucus) is strongly associated with expression level of agouti signalling protein. 黑雀鹰(Accipiter melanoleucus)的羽毛多态性与agouti信号蛋白的表达水平密切相关。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-11-18 DOI: 10.1093/jhered/esae068
Edmund Rodseth, Arjun Amar, Petra Sumasgutner, Robert A Ingle

Melanin-based plumage polymorphisms in birds are often associated with mutations in the melanogenesis genes, notably the melanocortin-1 receptor (MC1R), but may also arise through changes in the expression of these genes. Here we investigate the molecular basis of plumage polymorphism in both adult and juvenile black sparrowhawks (Accipiter melanoleucus), an African raptor that occurs in two adult colour morphs, light and dark, and also exhibits variation in juvenile plumage colouration. Our results confirmed that plumage differences in adult morphs were a result of differential deposition of eumelanin in their ventral contour feathers. No polymorphisms in the coding regions of the MC1R or the agouti signalling protein (ASIP) genes associated with adult colour morph were identified. However, lack of pigmentation in the developing breast feathers of light morph birds was strongly associated with elevated ASIP expression, and concomitant down-regulation of the downstream melanogenesis genes microphthalmia-associated transcription factor (MITF), tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Variation in the rufous coloured plumage of juveniles was found to be due to covariation in eumelanin and pheomelanin levels in dorsal and ventral contour feathers. As in adult birds, an inverse relationship between melanin pigmentation and ASIP expression was observed. This covariation between eumelanin and pheomelanin levels is not consistent with the pigment type-switching model of melanogenesis, where increased ASIP expression results in a switch from eumelanin to pheomelanin production. This highlights the need for caution when extrapolating results from model systems to other animals and the value of conducting research in wild species.

鸟类基于黑色素的羽色多态性通常与黑色素生成基因(尤其是黑色素皮质素-1受体(MC1R))的突变有关,但也可能是由于这些基因的表达发生了变化。在这里,我们研究了成鸟和幼鸟黑雀鹰(Accipiter melanoleucus)羽色多态性的分子基础,黑雀鹰是一种非洲猛禽,成鸟有两种羽色形态,即浅色和深色,幼鸟羽色也有变化。我们的研究结果证实,成鸟形态的羽色差异是其腹侧轮廓羽毛中黑色素沉积不同的结果。在MC1R或阿古提信号蛋白(ASIP)基因的编码区,没有发现与成鸟羽色形态相关的多态性。然而,浅色形态鸟类发育中的胸羽缺乏色素沉着与ASIP表达的升高以及下游黑色素生成基因小眼病相关转录因子(MITF)、酪氨酸酶(TYR)和酪氨酸酶相关蛋白1(TYRP1)的下调密切相关。研究发现,幼鸟红褐色羽毛的变化是由于背侧和腹侧轮廓羽毛中的黑褐素和黑褐素水平的共变造成的。与成鸟一样,观察到黑色素沉着与ASIP表达之间存在反比关系。黑色素和嗜黑素水平之间的这种协变关系与黑色素生成的色素类型转换模型并不一致,在该模型中,ASIP表达的增加会导致黑色素从嗜黑素生成转向嗜黑素生成。这凸显了将模型系统的结果推断到其他动物时需要谨慎,以及在野生物种中开展研究的价值。
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引用次数: 0
Transposable element accumulation drives genome size increase in Hylesia metabus (Lepidoptera: Saturniidae), an urticating moth species from South America. 可转座元件的积累推动了南美洲荨麻蛾物种 Hylesia metabus(鳞翅目:土星科)基因组大小的增加。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-11-18 DOI: 10.1093/jhered/esae069
Charles Perrier, Rémi Allio, Fabrice Legeai, Mathieu Gautier, Frédéric Bénéluz, William Marande, Anthony Theron, Nathalie Rodde, Melfran Herrera, Laure Saune, Hugues Parrinello, Melanie Mcclure, Mónica Arias

We present the first nuclear genome assembly and a complete mitogenome for Hylesia metabus (Arthropoda; Insecta; Lepidoptera; Saturniidae). The assembled nuclear genome sequence is 1,271 Mb long, which is among the 10 largest lepidopteran genome assemblies published to date. It is scaffolded in 31 pseudo chromosomes, has a BUSCO score of 99.5%, and has a highly conserved synteny compared to phylogenetically close species. Repetitive elements make up 67% of the nuclear genome and are mainly located in intergenic regions, among which LINEs were predominant, with CR1-Zenon being the most abundant. Phylogenetic and comparative analyses of H. metabus assembly and 17 additional Saturniidae and Sphingidae assemblies suggested that an accumulation of repetitive elements likely led to the increased size of H. metabus' genome. Gene annotation using Helixer identified 26,122 transcripts. The Z scaffold was identified using both a synteny analysis and variations of coverage for two resequenced male and female H. metabus. The H. metabus nuclear genome and mitogenome assemblies can be found and browsed on the BIPAA website and constitute useful resources for future population and comparative genomics studies.

我们首次展示了Hylesia metabus(节肢动物门;昆虫纲;鳞翅目;鞘翅目)的核基因组组装和完整的有丝分裂基因组。组装的核基因组序列长达 1,271 Mb,是迄今为止发表的 10 个最大的鳞翅目基因组组装序列之一。它由 31 条假染色体构成,BUSCO 得分为 99.5%,与系统发育上接近的物种相比,具有高度保守的同源关系。重复元件占核基因组的 67%,主要位于基因间区,其中以 LINEs 为主,CR1-Zenon 的数量最多。对H. metabus基因组和另外17个Saturniidae和Sphingidae基因组的系统发育和比较分析表明,重复性元件的积累可能导致H. metabus基因组的增大。利用 Helixer 进行的基因注释确定了 26,122 个转录本。通过对两个重新测序的雌雄 H. metabus 进行同源分析和覆盖率变化,确定了 Z 支架。H. metabus核基因组和有丝分裂基因组的组装可以在BIPAA网站上找到和浏览,是未来种群和比较基因组学研究的有用资源。
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引用次数: 0
Sensitivity of transcriptomics: Different samples and methodology alter conclusions in Gulf pipefish (Syngnathus scovelli). 转录组学的敏感性:不同样本和方法改变了海湾琵琶鱼(Syngnathus scovelli)的结论。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-11-15 DOI: 10.1093/jhered/esae067
Bernadette D Johnson, Emily Rose, Adam G Jones

Transcriptome analysis has become a central tool in evolutionary and functional genomics. However, variation among biological samples and analysis techniques can greatly influence results, potentially compromising insights into the phenomenon under study. Here, we evaluate differences in the brain transcriptome between female and male Gulf pipefish (Syngnathus scovelli). We perform comparisons between results from entire pipelines for brain transcriptome assembly, quantification, and analysis. We also offer a unique biological comparison between two sampling instances (Redfish Bay: n = 15, Port Lavaca: n = 7). Our results demonstrate crucial shortcomings with current experimental approaches. We found high variation within our results that was driven by both technical differences between pipelines and biological differences between pipefish samples. In our analysis of highly expressed genes, we found that the choice of methods influenced the degree of contamination or noise included in the identified genes. Notably, genes identified within the same pipeline were more similar than any other comparison. Our differential expression analysis revealed that both methodology and sampling location influenced the quantity and consistency of statistically significant transcripts. In the context of these results, we offer modifications to current practices that may increase the robustness of transcriptome-based conclusions. In particular, the use of a reference-guided assembly and an increase in sample sizes are likely to improve resistance to noise or error.

转录组分析已成为进化和功能基因组学的核心工具。然而,生物样本和分析技术之间的差异会极大地影响分析结果,从而有可能影响对所研究现象的深入了解。在这里,我们评估了雌性和雄性海湾琵琶鱼(Syngnathus scovelli)大脑转录组的差异。我们对整个脑转录组组装、量化和分析流水线的结果进行了比较。我们还对两个取样实例(红鱼湾:n = 15;拉瓦卡港:n = 7)进行了独特的生物学比较。我们的结果表明了当前实验方法的关键缺陷。我们发现,由于管道之间的技术差异和琵琶鱼样本之间的生物差异,我们的结果存在很大差异。在对高表达基因的分析中,我们发现方法的选择会影响已鉴定基因的污染或噪音程度。值得注意的是,在同一管道中鉴定出的基因比其他比较方法更相似。我们的差异表达分析表明,方法和取样位置都会影响具有统计学意义的转录本的数量和一致性。根据这些结果,我们对目前的做法提出了修改意见,以提高基于转录组的结论的稳健性。特别是,使用参考文献指导的组装和增加样本量可能会提高对噪音或误差的抵抗力。
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引用次数: 0
A chromosome-level genome assembly of the mountain lion, Puma concolor. 山狮(Puma concolor)染色体级基因组组装。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-11-07 DOI: 10.1093/jhered/esae063
Megan A Supple, Merly Escalona, Nicolas Alexandre, Michael R Buchalski, Seth P D Riley, Justin A Dellinger, T Winston Vickers, Ruta Sahasrabudhe, Oanh Nguyen, Colin W Fairbairn, William E Seligmann, Christopher C Wilmers, Beth Shapiro

Mountain lions, Puma concolor, are widespread and adaptable carnivores. However, due to their large home ranges and long distance dispersals, they are strongly impacted by habitat fragmentation, which results in small and isolated populations. Genomic analyses play an important role in understanding and predicting the impacts of increased isolation of populations, such as decreased genetic diversity and increased levels of inbreeding. Here we report a high-quality, chromosome-level reference genome of P. concolor that was generated as part of the California Conservation Genomics Project. The primary assembly has a total length of 2.5 Gb contained in 258 scaffolds, a contig N50 of 42.3 Mb, a scaffold N50 of 149.8 Mb, and a BUSCO completeness score of 95%. This P. concolor genome assembly will provide an important resource for genomic analyses that aid decision makers in managing the species in fragmented landscapes.

山狮(Puma concolor)是一种分布广泛、适应性强的食肉动物。然而,由于它们的家园范围大、分散距离远,它们受到栖息地破碎化的严重影响,导致种群数量少且孤立。基因组分析在理解和预测种群隔离加剧所带来的影响(如遗传多样性降低和近亲繁殖水平提高)方面发挥着重要作用。在此,我们报告了作为加利福尼亚保护基因组学项目一部分而生成的高质量、染色体水平的 P. concolor 参考基因组。主组装体的总长度为 2.5 Gb,包含在 258 个支架中,等位基因 N50 为 42.3 Mb,支架 N50 为 149.8 Mb,BUSCO 完整性评分为 95%。该P. concolor基因组组装将为基因组分析提供重要资源,帮助决策者在破碎化景观中管理该物种。
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引用次数: 0
A genome assembly for the California endemic liverwort Calasterella californica. 加州特有肝草 Calasterella californica 的基因组组装。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-11-06 DOI: 10.1093/jhered/esae065
Ixchel S González-Ramírez, Merly Escalona, Courtney Miller, Noravit Chumchim, Mohan P A Marimuthu, Oanh Nguyen, Michael J Song, Brent D Mishler

Calasterella californica belongs to a monotypic genus of liverworts endemic to the west coast of North America, primarily distributed in California. This dioicous species occurs in a variety of ecosystems from deserts to redwood forest; little is known about how this species is adapted to live in those seemingly contrasting environments. In this paper, we report the assembly of the nuclear genome of Calasterella californica. As part of the California Conservation Genomics Project (CCGP), we used Pacific Biosciences HiFi long-read sequencing data to produce a de novo assembly that consists of 772 contigs, with a total length of 517 Mbp and a BUSCO complete score of 95%. C. californica is only the sixth species of liverworts - a group with more than 7200 described species - to have a nuclear reference genome. The availability of this reference genome will facilitate the study of the unique features of C. californica and other liverworts, pave the road towards a comparative understanding of liverwort genomes, and add an important starting point for studies of the geographic variation of this species within the CCGP project.

Calasterella californica 属于北美西海岸特有的单型肝草属,主要分布在加利福尼亚州。这种二栖物种生活在从沙漠到红杉林的各种生态系统中;人们对该物种如何适应这些看似截然不同的环境知之甚少。在本文中,我们报告了 Calasterella californica 核基因组的组装情况。作为加利福尼亚保护基因组学项目(CCGP)的一部分,我们利用太平洋生物科学公司的 HiFi 长序列测序数据进行了从头组装,该组装由 772 个等位基因组成,总长度为 517 Mbp,BUSCO 完整性得分率为 95%。加利福尼亚草是肝草类中第六个拥有核参考基因组的物种,而肝草类中已描述的物种超过 7200 种。该参考基因组的获得将有助于研究加州锎和其他肝草的独特特征,为比较了解肝草基因组铺平道路,并为在 CCGP 项目中研究该物种的地理变异增添一个重要的起点。
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引用次数: 0
Lopez, J. V. (2023). Assessments and Conservation of Biological Diversity from Coral Reefs to the Deep Sea, Uncovering Buried Treasures and the Value of the Benthos. Academic Press, 253 pages. Lopez, J. V. (2023).从珊瑚礁到深海的生物多样性评估与保护》,《发现埋藏的宝藏和底栖生物的价值》。学术出版社,253 页。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-11-05 DOI: 10.1093/jhered/esae062
A Schulze
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引用次数: 0
Major Histocompatibility Complex Class II Genes Allele Diversity in Landlocked Seals. 内陆海豹的主要组织相容性复合体 II 类基因等位基因多样性。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-11-02 DOI: 10.1093/jhered/esae064
Ilya G Meschersky, Sergey I Meschersky, Natalia V Kryukova, Maria A Solovyeva, Evgeniy A Boltnev, Fedor V Klimov, Viatcheslav V Rozhnov

The allelic diversity of exon 2 (DQB gene) and exon 3 (DRB gene) of major histocompatibility complex class II was studied for the first time in two species of the landlocked pinnipeds, Baikal (N = 79) and Caspian (N = 32) seals, and these were in compared with the widespread Arctic species, the ringed seal (N = 13). The analysis of the second exon comprising the antigen-binding region revealed high allelic diversity in all three species but the pattern of the diversity was the most specific for the Baikal seal. This species differs from the other two by the smallest number of alleles in the population, yet they have the largest number of alleles per individual and by the maximum similarity of individual genotypes. Presumably, this specificity is a consequence of the spatial and temporal homogeneity of the Lake Baikal environment. Analysis of the third exon encoding the conserved β2-domain showed that the Baikal seal differs by the greatest number of amino acid sequences per individual, while the Caspian seal has the lowest number of variants. A single variant of the β2-domain, the same as in the ringed seal, predominates in the Caspian seal, whereas in the Baikal seal the two other variants predominate. At the same time, three species-specific amino acid sequences were observed among minor variants in the Caspian seal, while only one was found in the Baikal seal. This fact may suggest a longer period of independent evolution in the Caspian seal compared to the Baikal seal.

首次研究了主要组织相容性复合体 II 类的第 2 号外显子(DQB 基因)和第 3 号外显子(DRB 基因)的等位基因多样性,研究对象是两个内陆羽海豹物种,即贝加尔海豹(79 头)和里海海豹(32 头),并将它们与广泛分布的北极物种环斑海豹(13 头)进行了比较。对包括抗原结合区的第二个外显子的分析表明,这三个物种的等位基因多样性都很高,但贝加尔海豹的等位基因多样性模式最具特异性。贝加尔海豹与其他两个物种的不同之处在于,贝加尔海豹种群中的等位基因数量最少,但每个个体的等位基因数量却最多,个体基因型的相似性也最大。据推测,这种特异性是贝加尔湖环境的时空一致性造成的。对编码保守的β2-结构域的第三个外显子的分析表明,贝加尔海豹每个个体的氨基酸序列差异最大,而里海海豹的变体数量最少。在里海海豹中,与环斑海豹相同的β2-结构域的单一变体占主导地位,而在贝加尔海豹中,其他两个变体占主导地位。同时,在里海海豹的次要变体中发现了三个物种特有的氨基酸序列,而在贝加尔海豹中只发现了一个。这一事实可能表明,与贝加尔海豹相比,里海海豹的独立进化时间更长。
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引用次数: 0
Absence of heterosis for hypoxia tolerance in F1 hybrids of Tigriopus californicus. Tigriopus californicus 的 F1 代杂交种在耐缺氧性方面缺乏异质性。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-10-28 DOI: 10.1093/jhered/esae061
Aimee Deconinck, Olivia Madalone, Chris Willett

Hybridization produces a range of outcomes from advantageous to disadvantageous, and a goal of genetic research is to understand the gene interactions that generate these outcomes. Interactions between cytoplasmic elements, such as mitochondria, and the nucleus may be particularly vulnerable to accruing disadvantageous combinations as a result of their different rates of evolution. However, mitonuclear incompatibilities often do not have an observable effect until the F2 and later generations. We used Tigriopus californicus, a model system for mitonuclear incompatibilities that is also known for exhibiting heterosis in the F1 generation, to test whether hypoxia was more stressful for mitonuclear interactions than other environmental stressors. We generated 284 parental and 436 F1 hybrids from four population crosses (720 total) and compared parental and F1 populations for hypoxia tolerance. We observed that, on average, F1 hybrids were less likely to survive a hypoxia stress test than parental populations (Parental:F1 coefficients ranged from -0.04 to 0.14 with none significantly different from 0). This suggests that hypoxia may be a particularly intense stressor for mitonuclear coordination, and that hybridization outcomes vary by trait.

杂交会产生从有利到不利的一系列结果,而基因研究的一个目标就是了解产生这些结果的基因相互作用。线粒体等细胞质元素与细胞核之间的相互作用,由于进化速度不同,可能特别容易产生不利组合。然而,线粒体与细胞核之间的不相容性往往要到 F2 代及以后几代才会产生明显的影响。我们利用有丝分裂核互不相容的模式系统加利福尼亚褐虎(Tigriopus californicus)来测试缺氧是否比其他环境胁迫因素对有丝分裂核相互作用造成更大的胁迫。我们从四个群体杂交中产生了 284 个亲本和 436 个 F1 杂交种(共 720 个),并比较了亲本和 F1 群体对低氧的耐受性。我们观察到,平均而言,与亲本相比,F1 杂交种在低氧胁迫测试中存活的可能性较低(亲本:F1 系数从-0.04 到 0.14 不等,无显著差异)。这表明缺氧对有丝分裂核协调可能是一种特别强烈的压力,杂交结果因性状而异。
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引用次数: 0
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Journal of Heredity
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