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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
Whole-genome assembly and annotation of the firecracker penstemon (Penstemon eatonii). 爆竹草(Penstemon eatonii)的全基因组组装和注释。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-10-23 DOI: 10.1093/jhered/esae058
David E Jarvis, Mikel R Stevens, Payton Carter, Ying Fei Lin, Kate E Jaggi, Gabriela Jijon, Teal Kalt, Jouber Calixto, Samantha Standring, Kaitlin Torres, Kayla B Stephensen, Hayley Mangelson, Noah H Williams, Carolyn A Wessinger, Peter J Maughan, Paul B Frandsen

The penstemons are ornamental annual flowering plants native to the Intermountain West and Rocky Mountains and commonly used for urban landscaping. Elite commercial penstemons are generally susceptible to abiotic stresses, including drought, root rot, cold, and high salinity. Firecracker penstemon (Penstemon eatonii), however, is much more tolerant to these stresses than most elite cultivars. Importantly, firecracker penstemon has been reported to hybridize with many other penstemons and therefore provides the opportunity to develop more tolerant elite cultivars through strategic crossing. To facilitate the study and utilization of firecracker penstemon, we sequenced and annotated the genome of a P. eatonii accession collected from Utah, USA. We also performed low-coverage, whole-genome sequencing of 26 additional accessions from three different varieties of P. eatonii. This chromosome-scale genome assembly is the most contiguous and complete Penstemon genome sequenced to date.

笔茎花是观赏性一年生开花植物,原产于中西部和落基山脉,常用于城市景观美化。优秀的商品笔茎花一般容易受到非生物胁迫,包括干旱、根腐病、寒冷和高盐度。然而,爆竹鹅掌楸(Penstemon eatonii)对这些压力的耐受力要比大多数精英栽培品种强得多。重要的是,据报道爆竹草能与许多其他笔茎植物杂交,因此有机会通过战略性杂交培育出耐受性更强的优良栽培品种。为了促进对爆竹草的研究和利用,我们对从美国犹他州采集的一个 P. eatonii 品种的基因组进行了测序和注释。我们还对另外 26 个来自三个不同品种的 P. eatonii 进行了低覆盖率的全基因组测序。该染色体级基因组测序结果是迄今为止最连续、最完整的Penstemon基因组测序结果。
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引用次数: 0
Together inbreeding and reproductive compensation favor lethal t-haplotypes. 近亲繁殖和生殖补偿共同有利于致命的 t-单倍型。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-10-23 DOI: 10.1093/jhered/esae030
Manisha Munasinghe, Yaniv Brandvain

Male mice who are heterozygous for distorting and non-distorting alleles at the t-haplotype transmit the driving t-haplotype around 90% of the time-a drastic departure from Mendelian expectations. This selfish act comes at a cost. The mechanism underlying transmission distortion in this system causes severe sterility in males homozygous for the drive alleles, ultimately preventing its fixation. Curiously, many driving t-haplotypes also induce embryonic lethality in both sexes when homozygous; however, this is neither universal nor a necessity for this distortion mechanism. Charlesworth provided an adaptive explanation for the evolution of lethal t-haplotypes in a population segregating for distorting and non-distorting t alleles-if mothers compensate by replacing dead embryos with new offspring (or by transferring energy to surviving offspring), a recessive lethal can be favored because it effectively allows mothers the opportunity to trade in infertile males for potentially fertile offspring. This model, however, requires near complete reproductive compensation for the invasion of the lethal t-haplotype and produces an equilibrium frequency of lethal drivers well below what is observed in nature. We show that low levels of systemic inbreeding, which we model as brother-sister mating, allow lethal t-haplotypes to invade with much lower levels of reproductive compensation. Furthermore, inbreeding allows these lethal haplotypes to largely displace the ancestral male-sterile haplotypes. Our results show that together inbreeding and reproductive compensation move expected equilibria closer to observed haplotype frequencies in natural populations and occur under lower, potentially more reasonable, parameters.

雄性小鼠如果在 t-单倍型上是扭曲等位基因和非扭曲等位基因的杂合子,那么在大约 90% 的情况下都会传播驱动型 t-单倍型--这与孟德尔的预期大相径庭。这种自私的行为是有代价的。该系统中的传播扭曲机制会导致驱动等位基因的同源雄性出现严重不育,最终阻碍其固定。奇怪的是,许多驱动型 t-单倍型在同源时也会导致雌雄胚胎死亡;然而,这既不是普遍现象,也不是这种扭曲机制的必然结果。查尔斯沃思(Charlesworth)为在扭曲和非扭曲 t 等位基因分离的种群中致命 t 组型的进化提供了一种适应性解释--如果母亲通过用新的后代代替死亡的胚胎(或将能量转移给存活的后代)来补偿,那么隐性致死型就会受到青睐,因为它实际上使母亲有机会用不育的雄性来交换潜在的可育后代。然而,这种模式需要对致死的 t-单倍型的入侵进行近乎完全的生殖补偿,并产生远低于自然界观察到的致死驱动因子的平衡频率。我们的研究表明,低水平的系统性近亲繁殖(我们将其模拟为兄弟姐妹交配)允许致命的 t-单倍型以更低的生殖补偿水平入侵。此外,近亲繁殖使这些致死单倍型在很大程度上取代了祖先的雄性不育单倍型。我们的研究结果表明,近亲繁殖和生殖补偿共同使预期平衡更接近于自然种群中观察到的单倍型频率,并且发生在较低的参数下,可能更合理。
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引用次数: 0
Germline ecology: Managed herds, tolerated flocks, and pest control. 种系生态学:管理的畜群、耐受的羊群和害虫控制。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-10-23 DOI: 10.1093/jhered/esae004
David Haig

Multicopy sequences evolve adaptations for increasing their copy number within nuclei. The activities of multicopy sequences under constraints imposed by cellular and organismal selection result in a rich intranuclear ecology in germline cells. Mitochondrial and ribosomal DNA are managed as domestic herds subject to selective breeding by the genes of the single-copy genome. Transposable elements lead a peripatetic existence in which they must continually move to new sites to keep ahead of inactivating mutations at old sites and undergo exponential outbreaks when the production of new copies exceeds the rate of inactivation of old copies. Centromeres become populated by repeats that do little harm. Organisms with late sequestration of germ cells tend to evolve more "junk" in their genomes than organisms with early sequestration of germ cells.

多拷贝序列不断进化,以增加其在细胞核内的拷贝数。多拷贝序列的活动受到细胞和生物体选择的限制,从而在生殖细胞中形成了丰富的核内生态。mtDNA 和 rDNA 被当作家畜管理,受到单拷贝基因组基因选择性繁殖的影响。当新拷贝的产生速度超过旧拷贝的失活速度时,可转座元件就会呈指数级爆发。中心粒上的重复序列几乎不会造成危害。与早期生殖细胞封存的生物相比,晚期生殖细胞封存的生物往往会在基因组中进化出更多的 "垃圾"。
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引用次数: 0
Autosomal suppression of sex-ratio meiotic drive influences the dynamics of X and Y chromosome coevolution. 常染色体对性比减数分裂驱动力的抑制影响了 X 和 Y 染色体共同进化的动态。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-10-23 DOI: 10.1093/jhered/esae048
Anjali Gupta, Robert L Unckless

Sex-ratio meiotic drivers are selfish genes or gene complexes that bias the transmission of sex chromosomes resulting in skewed sex ratios. Existing theoretical models have suggested the maintenance of a four-chromosome equilibrium (with driving and standard X and suppressing and susceptible Y) in a cyclic dynamic, but studies of natural populations have failed to capture this pattern. Although there are several plausible explanations for this lack of cycling, interference from autosomal suppressors has not been studied using a theoretical population genetic framework even though autosomal suppressors and Y-linked suppressors coexist in natural populations of some species. In this study, we use a simulation-based approach to investigate the influence of autosomal suppressors on the cycling of sex chromosomes. Our findings demonstrate that the presence of an autosomal suppressor can hinder the invasion of a Y-linked suppressor under some parameter space, thereby impeding the cyclic dynamics, or even the invasion of Y-linked suppression. Even when a Y-linked suppressor invades, the presence of an autosomal suppressor can prevent cycling. Our study demonstrates the potential role of autosomal suppressors in preventing sex chromosome cycling and provides insights into the conditions and consequences of maintaining both Y-linked and autosomal suppressors.

性比减数分裂驱动基因是自私的基因或基因复合物,它们会使性染色体的传递产生偏差,导致性比失衡。现有的理论模型认为,四染色体平衡(驱动和标准 X 以及抑制和易感 Y)在循环动态中得以维持,但对自然种群的研究却未能捕捉到这种模式。虽然这种缺乏循环的现象有几种合理的解释,但常染色体抑制因子的干扰还没有用种群遗传学理论框架进行过研究,尽管常染色体抑制因子和 Y 连锁抑制因子在某些物种的自然种群中是共存的。在本研究中,我们使用了一种基于模拟的方法来研究常染色体抑制因子对性染色体循环的影响。我们的研究结果表明,在某些参数空间下,常染色体抑制因子的存在会阻碍 Y 连锁抑制因子的入侵,从而阻碍循环动力学,甚至阻碍 Y 连锁抑制因子的入侵。即使 Y 连锁抑制因子入侵,常染色体抑制因子的存在也能阻止循环。我们的研究证明了常染色体抑制因子在阻止性染色体循环中的潜在作用,并对同时维持 Y 连锁抑制因子和常染色体抑制因子的条件和后果提供了见解。
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引用次数: 0
The role of conflict in the formation and maintenance of variant sex chromosome systems in mammals. 冲突在哺乳动物变异性染色体系统的形成和维持中的作用。
IF 3 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2024-10-23 DOI: 10.1093/jhered/esae031
Jonathan J Hughes, German Lagunas-Robles, Polly Campbell

The XX/XY sex chromosome system is deeply conserved in therian mammals, as is the role of Sry in testis determination, giving the impression of stasis relative to other taxa. However, the long tradition of cytogenetic studies in mammals documents sex chromosome karyotypes that break this norm in myriad ways, ranging from fusions between sex chromosomes and autosomes to Y chromosome loss. Evolutionary conflict, in the form of sexual antagonism or meiotic drive, is the primary predicted driver of sex chromosome transformation and turnover. Yet conflict-based hypotheses are less considered in mammals, perhaps because of the perceived stability of the sex chromosome system. To address this gap, we catalog and characterize all described sex chromosome variants in mammals, test for family-specific rates of accumulation, and consider the role of conflict between the sexes or within the genome in the evolution of these systems. We identify 152 species with sex chromosomes that differ from the ancestral state and find evidence for different rates of ancestral to derived transitions among families. Sex chromosome-autosome fusions account for 79% of all variants whereas documented sex chromosome fissions are limited to three species. We propose that meiotic drive and drive suppression provide viable explanations for the evolution of many of these variant systems, particularly those involving autosomal fusions. We highlight taxa particularly worthy of further study and provide experimental predictions for testing the role of conflict and its alternatives in generating observed sex chromosome diversity.

XX/XY性染色体系统在有兽类哺乳动物中是完全保密的,Sry在睾丸决定中的作用也是如此,这给人一种相对于其他类群的稳定印象。然而,根据哺乳动物细胞遗传学研究的悠久传统,性染色体核型以多种方式打破了这一常规,从性染色体与常染色体融合到 Y 染色体缺失,不一而足。性对立或减数分裂驱动形式的进化冲突是性染色体转变和更替的主要驱动力。然而,也许是由于性染色体系统被认为是稳定的,基于冲突的假说在哺乳动物中较少被考虑。为了填补这一空白,我们对哺乳动物中所有已描述的性染色体变体进行了编目和特征描述,测试了特定家族的积累率,并考虑了两性之间或基因组内部的冲突在这些系统进化中的作用。我们发现了152个物种的性染色体与祖先的状态不同,并发现了不同科之间从祖先到衍生转变的不同速率的证据。性染色体-自体融合占所有变异的 80%,而有记载的性染色体裂解仅限于 3 个物种。我们提出,减数分裂驱动和驱动抑制为许多变异系统的进化提供了可行的解释,尤其是那些涉及常染色体融合的变异系统。我们强调了特别值得进一步研究的类群,并提供了实验预测,以检验冲突及其替代方案在产生所观察到的性染色体多样性中的作用。
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引用次数: 0
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Journal of Heredity
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