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Study on the origin of the Baise horse based on whole-genome resequencing 基于全基因组重测序的百色马起源研究
IF 2.4 3区 生物学 Q2 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-04-07 DOI: 10.1111/age.13424
Xiaoran Lin, Mo Feng, Ying Li, Yu Liu, Min Wang, Yuanyuan Li, Tao Yang, Chunjiang Zhao

The Baise horse, an indigenous horse breed mainly distributed in the Baise region of Guangxi province in southwest China, has a long history as draft animal. However, there is a lack of research regarding the origin and ancestral composition of the Baise horse. In this study, whole-genome resequencing data from 236 horses of seven Chinese indigenous horse breeds, five foreign horse breeds, and four Przewalski's horses were used to investigate the relationships between the Baise horse and other horse breeds. The results showed that foreign horse breeds had no significant impact on the formation of the Baise horse. The two southwestern horse populations, the Debao pony and the Jinjiang horse, exhibit the closest genetic affinity with the Baise horse. This is consistent with their adjacent geographical distribution. Analysis of the migration route revealed a gene flow from the Chakouyi horse into the Baise horse. In summary, our results confirm that the formation of the Baise horse did not involve participation from foreign breeds. Geographical distance emerges as a crucial factor in determining the genetic relationships with the Baise horse. Gene flows of indigenous horse breeds along ancient routes of trade activities had played a role in the formation of the Baise horse.

百色马是一种土生土长的马种,主要分布在中国西南部的广西省百色地区。然而,关于百色马的起源和祖先组成的研究却十分缺乏。本研究利用 7 个中国本土马种、5 个外国马种和 4 个普氏马种的 236 匹马的全基因组重测序数据,研究百色马与其他马种之间的关系。结果表明,外来马种对百色马的形成没有显著影响。德保矮马和晋江马这两个西南马种群与百色马的遗传亲缘关系最为密切。这与它们相邻的地理分布是一致的。对迁徙路线的分析表明,百色马的基因是从察右后旗马迁徙到百色马的。总之,我们的研究结果证实,百色马的形成并没有外来品种的参与。地理距离是决定百色马遗传关系的关键因素。沿古代贸易活动路线的本土马种基因流动在百色马的形成过程中发挥了作用。
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引用次数: 0
Whole-genome resequencing uncovers diversity and selective sweep in Kazakh cattle 全基因组测序揭示了哈萨克牛的多样性和选择性横扫。
IF 2.4 3区 生物学 Q2 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-04-01 DOI: 10.1111/age.13425
Lei Xu, Yunyun Zhang, Yang Guo, Qiuming Chen, Menghua Zhang, Hong Chen, Juan Geng, Xixia Huang

The Kazakh cattle in the Xinjiang Uygur Autonomous Region of China are highly adaptable and have multiple uses, including milk and meat production, and use as draft animals. They are an excellent original breed that could be enhanced by breeding and hybrid improvement. However, the genomic diversity and signature of selection underlying the germplasm characteristics require further elucidation. Herein, we evaluated 26 Kazakh cattle genomes in comparison with 103 genomes of seven other cattle breeds from regions around the world to assess the Kazakh cattle genetic variability. We revealed that the relatively low linkage disequilibrium at large SNP distances was strongly correlated with the largest effective population size among Kazakh cattle. Using population structural analysis, we next demonstrated a taurine lineage with restricted Bos indicus introgression among Kazakh cattle. Notably, we identified putative selected genes associated with resistance to disease and body size within Kazakh cattle. Together, our findings shed light on the evolutionary history and breeding profile of Kazakh cattle, as well as offering indispensable resources for germplasm resource conservation and crossbreeding program implementation.

中国新疆维吾尔自治区的哈萨克牛适应性强,具有多种用途,包括产奶、产肉和用作役畜。哈萨克牛是一个优秀的原始品种,可以通过育种和杂交改良得到提高。然而,种质特征背后的基因组多样性和选择特征需要进一步阐明。在此,我们将哈萨克牛的 26 个基因组与世界其他地区 7 个牛种的 103 个基因组进行了比较,以评估哈萨克牛的遗传变异性。我们发现,大SNP距离上相对较低的连锁不平衡与哈萨克牛最大的有效种群规模密切相关。接下来,我们利用种群结构分析,证明了哈萨克牛中的牛磺酸系具有限制性的Bos indicus引种。值得注意的是,我们在哈萨克牛中发现了与抗病性和体型相关的假定选育基因。总之,我们的研究结果揭示了哈萨克牛的进化历史和育种概况,并为种质资源保护和杂交育种计划的实施提供了不可或缺的资源。
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引用次数: 0
Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis 一只患有鱼鳞病的彭布罗克威尔士柯基犬的杂合子 ASPRV1 框移变异。
IF 2.4 3区 生物学 Q2 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-03-28 DOI: 10.1111/age.13423
Sarah Kiener, Susanne Åhman, Robert Cikota, Vidhya Jagannathan, Sohvi Blatter, Iva Cvitas, Sara Soto, Tosso Leeb
<p>Ichthyoses comprise a large, heterogeneous group of inherited cornification disorders. They are characterized by generalized scaly and hyperkeratotic skin (Oji et al., <span>2010</span>). In humans, over 69 genes have been associated with different forms of ichthyosis, grouped into non-syndromic ichthyoses with the phenotypic expression of the disorder only seen in the skin, and syndromic ichthyoses that show additional organ involvement (Gutiérrez-Cerrajero et al., <span>2023</span>; Uitto et al., <span>2020</span>). Further subdivision into epidermolytic and non-epidermolytic ichthyoses is based on the presence or absence of light microscopic findings of vacuoles and lysis of keratinocytes (Mauldin, <span>2013</span>). In dogs, several breed-specific ichthyoses have been described, and, to date, causal variants in nine different genes have been identified (Affolter et al., <span>2022</span>; Bauer et al., <span>2017</span>; Briand et al., <span>2019</span>; Casal et al., <span>2017</span>; Credille et al., <span>2005</span>, <span>2009</span>; Grall et al., <span>2012</span>; Kiener et al., <span>2022</span>; Kiener, Åhman, et al., <span>2023</span>; Kiener, Castilla, et al., <span>2023</span>; Metzger et al., <span>2015</span>). These genes are mainly involved in the biosynthesis, metabolism, and transport of lipids required for skin barrier function or the intracellular protein network responsible for the integrity of skin structure (Gutiérrez-Cerrajero et al., <span>2023</span>).</p><p>A 6-month-old Pembroke Welsh Corgi was presented with non-pruritic severe scaling (large 5–10-mm scales; Figure 1a), hyperkeratotic paw pads (Figure 1b), and fish-skin like flakes and erythema in friction areas (Figure 1c), present since shortly after birth. Histological examination of biopsies taken from haired skin and paw pads showed prominent compact to lamellar orthokeratotic hyperkeratosis (Figure 1d). The observed changes were compatible with non-epidermolytic ichthyosis.</p><p>We performed Illumina short-read whole-genome sequencing at 26× coverage on genomic DNA isolated from leukocytes to investigate potential causal genetic variants. The data were processed as previously described (Jagannathan et al., <span>2019</span>) with respect to the genome reference assembly UU_Cfam_GSD_1.0. Subsequent comparison of the whole-genome sequencing data of the affected dog to 960 genetically diverse canine genomes (Table S1) revealed 76 heterozygous and eight homozygous protein-changing private variants (Table S2). Among them was a heterozygous two base-pair deletion variant in the ichthyosis candidate gene <i>ASPRV1</i>, XM_038551592.1:c.594_595del or Chr10:NC_049231.1:69888722_69888723del, leading to a frameshift and altering 48% of the wildtype protein sequence, XP_038407520.1:p.(Leu199Argfs*342). The predicted mutant protein contains 539 compared to 381 amino acids in the wildtype protein. <i>ASPRV1</i> encodes the retroviral-like aspartic protease 1, which
鱼鳞病是一大类异质性遗传性角化障碍疾病。它们的特征是全身皮肤鳞屑和角化过度(Oji 等人,2010 年)。在人类中,有超过 69 个基因与不同形式的鱼鳞病有关,这些基因可分为表型仅表现在皮肤上的非综合征鱼鳞病和显示其他器官受累的综合征鱼鳞病(Gutiérrez-Cerrajero 等人,2023 年;Uitto 等人,2020 年)。表皮溶解性鱼鳞病和非表皮溶解性鱼鳞病的进一步细分是基于光镜下是否发现空泡和角质细胞溶解(Mauldin,2013年)。在狗中,已经描述了几种品种特异性鱼鳞病,迄今为止,已经确定了九种不同基因的致病变异(Affolter等人,2022年;Bauer等人,2017年;Briand等人,2019年;Casal等人,2017年;Credille等人,2005年,2009年;Grall等人,2012年;Kiener等人,2022年;Kiener、Åhman等人,2023年;Kiener、Castilla等人,2023年;Metzger等人,2015年)。这些基因主要参与皮肤屏障功能所需的脂质或负责皮肤结构完整性的细胞内蛋白质网络的生物合成、代谢和运输(Gutiérrez-Cerrajero et al、一只 6 个月大的彭布罗克威尔士柯基犬自出生后不久就出现了非瘙痒性严重脱屑(5-10 毫米的大鳞屑;图 1a)、角化过度的爪垫(图 1b)以及摩擦部位的鱼鳞状皮屑和红斑(图 1c)。从毛发皮肤和爪垫上取下的活检组织学检查显示,有明显的紧密至片状角化过度(图 1d)。我们对从白细胞中分离出的基因组DNA进行了26倍覆盖率的Illumina短线程全基因组测序,以研究潜在的致病基因变异。数据的处理方法如前所述(Jagannathan 等人,2019 年),与基因组参考组装 UU_Cfam_GSD_1.0 相关。随后将患犬的全基因组测序数据与 960 个不同基因的犬基因组(表 S1)进行比较,发现了 76 个杂合型和 8 个同源型改变蛋白质的私有变异(表 S2)。其中,鱼鳞病候选基因 ASPRV1 中的一个杂合性两个碱基对缺失变异,XM_038551592.1:c.594_595del 或 Chr10:NC_049231.1:69888722_69888723del 会导致一个帧移位并改变 48% 的野生型蛋白质序列,即 XP_038407520.1:p.(Leu199Argfs*342)。预测的突变体蛋白含有 539 个氨基酸,而野生型蛋白含有 381 个氨基酸。ASPRV1 编码类似逆转录病毒的天冬氨酸蛋白酶 1,它负责将多聚体 profilaggrin 分裂成 filaggrin 单体,而 filaggrin 单体对表皮最外层粟粒状结构的完整性至关重要。通过对一只经临床和组织病理学诊断患有鱼鳞病的彭布罗克威尔士柯基犬进行全基因组测序,我们确定了 ASPRV1 的一个候选致病变体。此前曾有报道称,该基因可导致德国牧羊犬和人类患者的常染色体显性鱼鳞病(Bauer等人,2017;Boyden等人,2020)。我们的研究凸显了精准医学在调查兽医学中基因皮肤病方面的潜力:构思;调查;可视化;写作-原稿;写作-审阅和编辑。苏珊娜-奥曼(Susanne Åhman):概念化;调查;可视化;写作--原稿;写作--审阅和编辑。罗伯特-西科塔调查;写作--审阅和编辑。Vidhya Jagannathan:数据整理;写作--审阅和编辑。索维-布拉特调查;可视化;写作--原稿;写作--审阅和编辑。Iva Cvitas:调查;写作--审阅和编辑。Sara Soto:调查;可视化;写作--原稿;写作--审阅和编辑。Tosso Leeb:概念化;资金获取;可视化;写作--原稿;写作--审阅和编辑。
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引用次数: 0
Population structure and genomic diversity of the Einsiedler horse 爱因西德勒马的种群结构和基因组多样性。
IF 2.4 3区 生物学 Q2 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-03-23 DOI: 10.1111/age.13421
Annik Gmel, Anne Ricard, Vinzenz Gerber, Markus Neuditschko

The breeding history of the Einsiedler horse is closely connected with the Benedictine cloister Einsiedeln. In the mid-nineteenth century, it was decided to use European Warmblood stallions for cross-breeding and to abandon the selection of stallions. Since that time, it has only been possible to trace back the origin of Einsiedler horses using maternal ancestry information. Here, we collected high-density genotype data for European Warmblood horses (Selle Français, Swiss Warmblood and Einsiedler) and Franches-Montagnes horses, the last native Swiss horse breed, to unravel the current population structure of the Einsiedler horse. Using commonly applied methods to ascertain fine-scale population structures, it was not possible to clearly differentiate the Einsiedler from other European Warmblood horses. However, by means of runs of homozygosity (ROH) we were able to detect breed-specific ROH islands for the Einsiedler horse, including genes involved in domestication and adaptation to high altitude. Therefore, future breeding activities should involve the screening of these breed-specific ROH segments, the revival of cryopreserved sperm and the selection of Einsiedler stallions.

爱因西德勒马的育种历史与本笃会修道院爱因西德恩(Einsiedeln)密切相关。十九世纪中叶,人们决定使用欧洲温血种马进行杂交,并放弃了对种马的挑选。从那时起,人们只能通过母系血统信息来追溯艾因西德勒马的起源。在这里,我们收集了欧洲温血马(Selle Français、瑞士温血马和Einsiedler)和瑞士最后一个本土马种Franches-Montagnes马的高密度基因型数据,以揭示Einsiedler马目前的种群结构。使用常用的方法来确定精细的种群结构,并不能将艾因西德勒马与其他欧洲温血马明确区分开来。不过,通过同源性分析(ROH),我们发现了爱因斯德勒马品种特有的ROH岛,包括与驯化和适应高海拔有关的基因。因此,未来的育种活动应包括筛选这些品种特异的 ROH 区段、恢复冷冻保存的精子以及挑选 Einsiedler 种马。
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引用次数: 0
Domenico Bernoco: In Memorium 多梅尼科-贝尔诺科:悼念
IF 2.4 3区 生物学 Q2 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-03-21 DOI: 10.1111/age.13418
Doug Antczak, Harris Lewin, Marietta Bernoco, Ernest Bailey
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引用次数: 0
Identification of polymorphic markers for germplasm conservation of three precious Chinese palace goldfish using whole-genome sequencing 利用全基因组测序鉴定中国三种珍贵宫廷金鱼种质保护的多态性标记。
IF 2.4 3区 生物学 Q2 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-03-18 DOI: 10.1111/age.13419
Yuwei Huang, Aiying Cao, Beiyuan Zhang, Sen Li, Chuan He, Jian Gao, Xiaojuan Cao

China was the first country in the world to breed goldfish and has generated many unique goldfish varieties, including the most aristocratic Chinese palace goldfish. Due to the lack of scientific research on Chinese palace goldfish, their selection and breeding are mainly carried out through traditional hybridization, leading to serious inbreeding and the degradation of germplasm resources. To this end, whole-genome resequencing was performed to understand the genetic variation among three different varieties (eggpompons, goosehead, and tigerhead) from nine core conserved populations in China. A total of 15 polymorphic SSRs were developed for population genetics, and all tested populations were considered moderately polymorphic with an average polymorphism information content value of 0.4943. Genetic diversity in different varieties showed that all conserved populations were well protected with the potential for continued exploitation. This study provides reliable molecular tools and a basis for designing conservation and management programs in Chinese palace goldfish.

中国是世界上最早繁育金鱼的国家,产生了许多独具特色的金鱼品种,其中包括最具贵族气质的中国宫廷金鱼。由于缺乏对中国宫廷金鱼的科学研究,其选育主要通过传统杂交方式进行,导致近亲繁殖严重,种质资源退化。为此,研究人员进行了全基因组重测序,以了解中国九个核心保守群体中三个不同品种(蛋鲳、鹅头和虎头)之间的遗传变异。为群体遗传学共开发了 15 个多态性 SSR,所有测试群体均被认为具有中等多态性,平均多态性信息含量值为 0.4943。不同品种的遗传多样性表明,所有受保护的种群都得到了很好的保护,具有继续开发利用的潜力。这项研究为设计中国宫廷金鱼的保护和管理计划提供了可靠的分子工具和依据。
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引用次数: 0
Unraveling genomic diversity and positive selection signatures of Qaidam cattle through whole-genome re-sequencing 通过全基因组重测序揭示盖达姆牛的基因组多样性和正选择特征。
IF 2.4 3区 生物学 Q2 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-03-13 DOI: 10.1111/age.13417
Xudong Wei, Shuang Li, Huixuan Yan, Shengmei Chen, Ruizhe Li, Weizhong Zhang, Shengyu Chao, Weixing Guo, Wenhao Li, Zulfiqar Ahmed, Chuzhao Lei, Zhijie Ma

Qaidam cattle are a typical Chinese native breed inhabiting northwest China. They bear the characteristics of high cold and roughage tolerance, low-oxygen adaptability and good meat quality. To analyze the genetic diversity of Qaidam cattle, 60 samples were sequenced using whole-genome resequencing technology, along with 192 published sets of whole-genome sequencing data of Indian indicine cattle, Chinese indicine cattle, North Chinese cattle breeds, East Asian taurine cattle, Eurasian taurine cattle and European taurine cattle as controls. It was found that Qaidam cattle have rich genetic diversity in Bos taurus, but the degree of inbreeding is also high, which needs further protection. The phylogenetic analysis, principal component analysis and ancestral component analysis showed that Qaidam cattle mainly originated from East Asian taurine cattle. Qaidam cattle had a closer genetic relationship with the North Chinese cattle breeds and the least differentiation from Mongolian cattle. Annotating the selection signals obtained by composite likelihood ratio, nucleotide diversity analysis, integrated haplotype score, genetic differentiation index, genetic diversity ratio and cross-population extended haplotype homozygosity methods, several genes associated with immunity, reproduction, meat, milk, growth and adaptation showed strong selection signals. In general, this study provides genetic evidence for understanding the germplasm characteristics of Qaidam cattle. At the same time, it lays a foundation for the scientific and reasonable protection and utilization of genetic resources of Chinese local cattle breeds, which has great theoretical and practical significance.

柴达木牛是栖息于中国西北地区的典型中国本土品种。它们具有耐寒、耐粗饲料、低氧适应性强、肉质好等特点。为了分析柴达木牛的遗传多样性,研究人员利用全基因组重测序技术对60个样本进行了测序,并以192套已发表的印度籼牛、中国籼牛、中国北方牛种、东亚牛、欧亚牛和欧洲牛的全基因组测序数据作为对照。研究发现,柴达木牛具有丰富的牛遗传多样性,但近交程度也较高,需要进一步保护。系统进化分析、主成分分析和祖先成分分析表明,柴达木牛主要起源于东亚金牛。柴达木牛与华北牛种的遗传关系较近,与蒙古牛的分化最小。通过综合似然比、核苷酸多样性分析、综合单倍型得分、遗传分化指数、遗传多样性比和跨群扩展单倍型同源性等方法对选择信号进行注释,发现与免疫、繁殖、肉用、奶用、生长和适应等相关的几个基因表现出较强的选择信号。总之,本研究为了解柴达木牛的种质特征提供了遗传学证据。同时,也为科学合理地保护和利用中国地方牛种遗传资源奠定了基础,具有重要的理论和现实意义。
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引用次数: 0
Genomic characterization of dryland adaptation in endangered Anxi cattle in China 中国濒危安溪牛旱地适应性的基因组特征。
IF 2.4 3区 生物学 Q2 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-03-04 DOI: 10.1111/age.13416
Yang Lyu, Tingting Yao, Zhefu Chen, Ruiyao Huangfu, Haijian Cheng, Weidong Ma, Xingshan Qi, Fuqiang Li, Ningbo Chen, Chuzhao Lei

Local species exhibit distinctive indigenous characteristics while showing unique productive and phenotypic traits. However, the advent of commercialization has posed a substantial threat to the survival of indigenous species. Anxi cattle, an endangered native breed in China, have evolved unique growth and reproductive characteristics in extreme desert and semidesert ecosystems. In this study, we conducted a genomic comparison of 10 Anxi cattle genomes with those of five other global populations/breeds to assess genetic diversity and identify candidate genomic regions in Anxi cattle. Population structure and genetic diversity analyses revealed that Anxi cattle are part of the East Asian cattle clade, exhibiting higher genetic diversity than commercial breeds. Through selective sweep analysis, we identified specific genetic variations linked to the environmental adaptability of Anxi cattle. Notably, we identified several candidate genes, including CERS3 involved in regulating skin permeability and antimicrobial functions, RBFOX2 associated with cardiac development, SLC16A7 participated in the regulation of pancreatic endocrine function, and SPATA3 related to reproduction. Our findings revealed the distinctive genomic features of Anxi cattle in dryland environments, provided invaluable insights for further research and breed preservation, and had important significance for enriching the domestic cattle breeding gene bank.

本地物种具有鲜明的本地特征,同时表现出独特的产量和表型特征。然而,商业化的到来对本土物种的生存构成了巨大威胁。安溪牛是中国的一个濒危本土品种,在极端的沙漠和半沙漠生态系统中进化出了独特的生长和繁殖特性。在这项研究中,我们将 10 个安溪牛基因组与全球其他 5 个种群/品种的基因组进行了比较,以评估安溪牛的遗传多样性并确定候选基因组区域。种群结构和遗传多样性分析表明,安溪牛属于东亚牛支系,其遗传多样性高于商业品种。通过选择性扫描分析,我们发现了与安溪牛环境适应性相关的特定遗传变异。值得注意的是,我们发现了几个候选基因,包括参与调节皮肤通透性和抗菌功能的 CERS3、与心脏发育相关的 RBFOX2、参与调节胰腺内分泌功能的 SLC16A7 以及与繁殖相关的 SPATA3。我们的研究结果揭示了安溪牛在干旱环境中的基因组特征,为进一步研究和品种保护提供了宝贵的启示,对丰富家牛育种基因库具有重要意义。
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引用次数: 0
A de novo mutation in CACNA1A is associated with autosomal dominant bovine familial convulsions and ataxia in Angus cattle CACNA1A 的一个新突变与安格斯牛常染色体显性家族性牛惊厥和共济失调有关。
IF 2.4 3区 生物学 Q2 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-03-01 DOI: 10.1111/age.13409
Rachel R. Reith, Jonathan E. Beever, Joe C. Paschal, Jason Banta, Brian F. Porter, David J. Steffen, Thomas B. Hairgrove, Jessica L. Petersen

Bovine familial convulsions and ataxia (BFCA) is considered an autosomal dominant syndrome with incomplete penetrance. Nine Angus calves from the same herd were diagnosed with BFCA within days of birth. Necropsy revealed cerebellar and spinal cord lesions associated with the condition. Parentage testing confirmed that all affected calves had a common sire. The sire was then bred to 36 cows across two herds using artificial insemination, producing an additional 14 affected calves. The objective of this investigation was to identify hypothesized dominant genetic variation underlying the condition. Whole-genome sequencing was performed on the sire, six affected and seven unaffected paternal half-sibling calves and combined with data from 135 unrelated controls. The sire and five of the six affected calves were heterozygous for a nonsense variant (Chr7 g.12367906C>T, c.5073C>T, p.Arg1681*) in CACNA1A. The other affected calves (N = 8) were heterozygous for the variant but it was absent in the other unaffected calves (N = 7) and parents of the sire. This variant was also absent in sequence data from over 6500 other cattle obtained via public repositories and collaborator projects. The variant in CACNA1A is expressed in the cerebellum of the ataxic calves as detected in the transcriptome and was not differentially expressed compared with controls. The CACNA1A protein is part of a highly expressed cerebellar calcium voltage gated channel. The nonsense variant is proposed to cause haploinsufficiency, preventing proper transmission of neuronal signals through the channel and resulting in BFCA.

牛家族性惊厥和共济失调(BFCA)被认为是一种常染色体显性遗传综合征,具有不完全渗透性。来自同一牛群的九头安格斯小牛在出生后几天内被诊断出患有 BFCA。尸检发现小脑和脊髓病变与此病有关。亲子鉴定证实,所有患病的小牛都有一个共同的父亲。随后,使用人工授精技术将该父本与两个牛群中的 36 头奶牛配种,又产生了 14 头患病犊牛。这项调查的目的是确定该病症的假定显性遗传变异。对母牛、6 头患病犊牛和 7 头未患病的父系同父异母犊牛进行了全基因组测序,并与 135 头无关对照组的数据进行了合并。这头母牛和 6 头患病犊牛中的 5 头都是 CACNA1A 无义变体(Chr7 g.12367906C>T,c.5073C>T,p.Arg1681*)的杂合子。其他受影响的犊牛(N = 8)都是该变异的杂合子,但其他未受影响的犊牛(N = 7)和父本中都没有该变异。通过公共资料库和合作项目获得的其他 6500 多头牛的序列数据中也不存在该变异。从转录组中检测到,共济失调犊牛的小脑中表达了 CACNA1A 变体,但与对照组相比,该变体的表达并无差异。CACNA1A蛋白是高表达的小脑钙电压门控通道的一部分。无义变异被认为会导致单倍体缺陷,阻碍神经元信号通过该通道的正常传输,从而导致小脑共济失调。
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引用次数: 0
The role of genetic variability of the host on the resistance to Neospora caninum infection in cattle 宿主的遗传变异对牛感染犬新孢子虫的抵抗力的作用。
IF 2.4 3区 生物学 Q2 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-02-28 DOI: 10.1111/age.13410
Anabella Dinon, Franco Fiorani, Lucía María Campero, Dadín Prando Moore, Pablo Marcelo Corva

Neospora caninum is one of the most frequently diagnosed abortifacient pathogens in cattle. There is abundant genomic information about the parasite itself, but very little is known about the genetic variability of resistance in the most common intermediate host. The aim of this review was to compile all the available information about the genetic variability associated with the resistance to N. caninum both between and within cattle breeds. We systematically searched for published studies that investigated the influence of genetics of the host on the prevalence of N. caninum and risk of abortion. Beyond the potential confounding effects of feeding systems, management and animal density, some lines of evidence suggest that Holstein, the most popular breed for milk production, has a comparatively higher risk of abortion due to infections by N. caninum, whereas some beef breeds from Continental Europe seem to be more resistant. It is still not clear if different genetic mechanisms of resistance are involved in the two known routes of infection: postnatal ingestion of oocysts or transplacental transmission from the infected dam to the fetus. Genomic information associated with susceptibility to infection and risk of abortion in different cattle breeds is still scarce. The information reported here could be useful to identify new research alternatives and to define novel strategies to deal with this major problem of animal production.

犬新孢子虫(Neospora caninum)是最常见的牛流产病原体之一。有关寄生虫本身的基因组信息非常丰富,但对最常见的中间宿主的抗药性基因变异性却知之甚少。本综述旨在汇编牛种之间和牛种内部与抗性相关的遗传变异的所有可用信息。我们系统地搜索了已发表的研究报告,这些报告调查了宿主遗传对 N. caninum 感染率和流产风险的影响。除了饲养系统、管理和动物密度的潜在混杂影响外,一些证据表明,最受欢迎的产奶牛种荷斯坦因感染金黄色葡萄球菌而流产的风险相对较高,而欧洲大陆的一些肉牛品种似乎更具抵抗力。目前还不清楚两种已知的感染途径是否涉及不同的抗性遗传机制:产后摄入卵囊或受感染的母体经胎盘传播给胎儿。与不同牛种的感染易感性和流产风险有关的基因组信息仍然很少。本文报告的信息有助于确定新的研究方案,并制定新的策略来解决这一动物生产中的重大问题。
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Animal genetics
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