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Genetic basis of ear length in sheep breeds sampled across the region from the Middle East to the Alps 从中东到阿尔卑斯山地区抽样调查的绵羊品种耳长的遗传基础
IF 2.4 3区 生物学
Animal genetics Pub Date : 2023-12-08 DOI: 10.1111/age.13387
Jürgen Klawatsch, Dimitris Papachristou, Panagiota Koutsouli, Maulik Upadhyay, Doris Seichter, Ingolf Russ, Boro Mioč, Mojca Simčič, Iosif Bizelis, Ivica Medugorac
{"title":"Genetic basis of ear length in sheep breeds sampled across the region from the Middle East to the Alps","authors":"Jürgen Klawatsch,&nbsp;Dimitris Papachristou,&nbsp;Panagiota Koutsouli,&nbsp;Maulik Upadhyay,&nbsp;Doris Seichter,&nbsp;Ingolf Russ,&nbsp;Boro Mioč,&nbsp;Mojca Simčič,&nbsp;Iosif Bizelis,&nbsp;Ivica Medugorac","doi":"10.1111/age.13387","DOIUrl":"10.1111/age.13387","url":null,"abstract":"<p>Ear length in sheep (<i>Ovis aries</i>) shows a wide range of natural variation, from the absence of an outer ear structure (<i>anotia</i>), to small outer ears (<i>microtia</i>), to regular ear length. Up until now, the underlying genetics of this phenotype has been studied in four sheep breeds from China, Jordan and Italy. These studies revealed a broad range of genes significantly associated with ear length, potentially indicating genetic heterogeneity across breeds or geographic regions. In the current study, we performed genome-wide SNP genotyping and haplotype-based mapping, in a population of 340 individuals, to identify loci influencing ear length variation in additional sheep breeds from Slovenia, Croatia, Cyprus and Greece. Additionally, two previously described candidate variants were also genotyped in our mapping population. The mapping model without candidate variant genotypes revealed only one genome-wide significant signal, which was located next to <i>HMX1</i> on OAR6. This region was previously described as being associated with ear length variation in the Altay and Awassi sheep breeds. The mapping model including the candidate duplication genotype near <i>HMX1</i> as a fixed effect explained the phenotypic variance on OAR6 and revealed an additional genome-wide significant locus on OAR13 associated with ear length. Our results, combined with published evidence, suggest that a duplication in the evolutionarily conserved region near <i>HMX1</i> is the major regulator of ear length in sheep breeds descended from a larger region from Central Asia, to the Middle East, Cyprus, Greece and to the Alps. This distribution suggests an ancient origin of the derived allele.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13387","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138560815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genome-wide association study of growth traits and validation of key mutations (MSTN c.C861T) associated with the muscle mass of meat pigeons 肉鸽生长性状的全基因组关联研究以及与肉鸽肌肉质量相关的关键突变(MSTN c.C861T)的验证
IF 2.4 3区 生物学
Animal genetics Pub Date : 2023-12-08 DOI: 10.1111/age.13382
Haobin Hou, Xiaoliang Wang, Xin Li, Xia Cai, Yingying Tu, Changsuo Yang, Junfeng Yao
{"title":"Genome-wide association study of growth traits and validation of key mutations (MSTN c.C861T) associated with the muscle mass of meat pigeons","authors":"Haobin Hou,&nbsp;Xiaoliang Wang,&nbsp;Xin Li,&nbsp;Xia Cai,&nbsp;Yingying Tu,&nbsp;Changsuo Yang,&nbsp;Junfeng Yao","doi":"10.1111/age.13382","DOIUrl":"10.1111/age.13382","url":null,"abstract":"<p>Selective breeding of meat pigeons is primarily based on growth traits, especially muscle mass (MM). Identification of functional genes and molecular markers of growth and slaughter traits through a genome-wide association study (GWAS) will help to elucidate the underlying molecular mechanisms and provide a theoretical basis for the selective breeding of meat pigeons. The phenotypic data of body weight (BW) and body size (BS) of 556 meat pigeons at 52 and 80 weeks of age were collected. In total, 160 434 high-quality single nucleotide polymorphism sites were obtained by restriction site-associated DNA sequencing. The GWAS analysis revealed that <i>MSTN</i>, <i>IGF2BP3</i> and <i>NCAPG</i>/<i>LCORL</i> were important candidate genes affecting the growth traits of meat pigeons. <i>IGF2BP3</i> and <i>NCAPG</i>/<i>LCORL</i> were highly correlated to BW and BS, which are related to overall growth and development, while <i>MSTN</i> was associated with pectoral thickness and BW. Phenotypic association validation with the use of two meat pigeon populations found that the <i>MSTN</i> mutation c.C861T determines the MM. These results provide new insights into the genetic mechanisms underlying phenotypic variations of growth traits and MM in commercial meat pigeons. The identified markers and genes provide a theoretical basis for the selective breeding of meat pigeons.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138561091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genome-wide analyses based on a novel donkey 40K liquid chip reveal the gene responsible for coat color diversity in Chinese Dezhou donkey 基于新型驴40K液体芯片的全基因组分析揭示了中国德州驴毛色多样性的基因。
IF 2.4 3区 生物学
Animal genetics Pub Date : 2023-11-23 DOI: 10.1111/age.13379
Shuqin Liu, Jiangtian Su, Qiwen Yang, Minhao Sun, Zhaofei Wang, Jie Yu, Halima Jafari, Chuzhao Lei, Yujiang Sun, Ruihua Dang
{"title":"Genome-wide analyses based on a novel donkey 40K liquid chip reveal the gene responsible for coat color diversity in Chinese Dezhou donkey","authors":"Shuqin Liu,&nbsp;Jiangtian Su,&nbsp;Qiwen Yang,&nbsp;Minhao Sun,&nbsp;Zhaofei Wang,&nbsp;Jie Yu,&nbsp;Halima Jafari,&nbsp;Chuzhao Lei,&nbsp;Yujiang Sun,&nbsp;Ruihua Dang","doi":"10.1111/age.13379","DOIUrl":"10.1111/age.13379","url":null,"abstract":"<p>Dezhou donkey is one of the representative local breeds in China, which is mainly divided into two strains: Sanfen and Wutou. There are obvious differences in coat color between the two strains. The former shows light points around the eyes, around the muzzle and under the belly, while the latter is completely solid black. In this study, genome-wide association analysis was performed for the differences in coat color traits between the Sanfen (<i>n</i> = 97) and Wutou (<i>n</i> = 108) strains using a novel donkey 40K liquid chip developed based on GenoBaits technology, to identify genomic regions and causal genes that could explain this variation. We also used <i>F</i><sub>ST</sub> and The cross-population composite likelihood ratio test (XPCLR) analyses to explore selected regions related to coat color differences. We identified one significant region on chromosome 15, with the most significant SNP located within the agouti signaling protein (<i>ASIP</i>) gene. At the same time, both <i>F</i><sub>ST</sub> and XPCLR methods detected the same selected region on chromosome 15, and <i>ASIP</i> was the gene with the strongest signal. <i>ASIP</i> and melanocortin 1 receptor (<i>MC1R</i>) control the ratio of eumelanin to pheomelanin through their protein activity. They are deeply involved in the process of melanosome organation and melanogenesis, thus affecting mammals’ coat color variation. We used a range of genome-wide approach to identify the genetic basis of coat color variation in Dezhou donkeys. The results provide a supplement to the color variation study in Chinese donkeys at the genome-wide level, and preliminarily verified the reliability of the Molbreeding Donkey No. 1 40K liquid chip.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138294486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic diversity patterns in farmed rainbow trout (Oncorhynchus mykiss) populations using genome-wide SNP and haplotype data 利用全基因组SNP和单倍型数据研究养殖虹鳟鱼群体的遗传多样性模式。
IF 2.4 3区 生物学
Animal genetics Pub Date : 2023-11-23 DOI: 10.1111/age.13378
Alessio Longo, Khrystyna Kurta, Tytti Vanhala, Henrik Jeuthe, Dirk-Jan de Koning, Christos Palaiokostas
{"title":"Genetic diversity patterns in farmed rainbow trout (Oncorhynchus mykiss) populations using genome-wide SNP and haplotype data","authors":"Alessio Longo,&nbsp;Khrystyna Kurta,&nbsp;Tytti Vanhala,&nbsp;Henrik Jeuthe,&nbsp;Dirk-Jan de Koning,&nbsp;Christos Palaiokostas","doi":"10.1111/age.13378","DOIUrl":"10.1111/age.13378","url":null,"abstract":"<p>Rainbow trout is one of the most popular aquaculture species worldwide, with a long history of domestication. However, limited information exists about the genetic diversity of farmed rainbow trout populations globally, with most available reports relying on low-throughput genotyping technologies. Notably, no information exists about the genetic diversity status of farmed rainbow trout in Sweden. Double-digest restriction-site-associated DNA sequencing was performed on more than 500 broodfish from two leading producers in Sweden and from the country's national breeding program. Following the detection of single nucleotide polymorphisms (SNPs), genetic diversity was studied by using either individual SNPs (<i>n</i> = 8680; one SNP retained per 300 bp sequence reads) or through SNP haplotypes (<i>n</i> = 20 558; all SNPs retained in 300 bp sequence reads). Similar amounts of genetic diversity were found amongst the three populations when individual SNPs were used. Furthermore, principal component analysis and discriminant analysis of principal components suggested two genetic clusters with the two industry populations grouped together. Genetic differentiation based on the <i>F</i><sub>ST</sub> fixation index was ~0.01 between the industry populations and ~0.05 when those were compared with the breeding program. Preliminary estimates of effective population size (<i>N</i><sub>e</sub>) and inbreeding (based on runs of homozygosity; <i>F</i><sub>ROH</sub>) were similar amongst the three populations (<i>N</i><sub>e</sub> ≈ 50–80; median <i>F</i><sub>ROH</sub> ≈ 0.11). Finally, the haplotype-based analysis suggested that animals from the breeding program had higher shared coancestry levels than those from the other two populations. Overall, our study provides novel insights into the genetic diversity and structure of Sweden's three main farmed rainbow trout populations, which could guide their future management.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13378","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138294485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Relevance of pharmacogenetics and pharmacogenomics in veterinary clinical practice: A review 药物遗传学和药物基因组学在兽医临床实践中的应用综述。
IF 2.4 3区 生物学
Animal genetics Pub Date : 2023-11-22 DOI: 10.1111/age.13376
Ayushi Vaidhya, Kanika Ghildiyal, Divya Rajawat, Sonali Sonejita Nayak, Subhashree Parida, Manjit Panigrahi
{"title":"Relevance of pharmacogenetics and pharmacogenomics in veterinary clinical practice: A review","authors":"Ayushi Vaidhya,&nbsp;Kanika Ghildiyal,&nbsp;Divya Rajawat,&nbsp;Sonali Sonejita Nayak,&nbsp;Subhashree Parida,&nbsp;Manjit Panigrahi","doi":"10.1111/age.13376","DOIUrl":"10.1111/age.13376","url":null,"abstract":"<p>The recent advances in high-throughput next-generation sequencing technologies have heralded the arrival of the Big Data era. As a result, the use of pharmacogenetics in drug discovery and individualized drug therapy has transformed the field of precision medicine. This paradigm shift in drug development programs has effectively reshaped the old drug development practices, which were primarily concerned with the physiological status of patients for drug development. Pharmacogenomics bridges the gap between pharmacodynamics and pharmacokinetics, advancing current diagnostic and treatment strategies and enabling personalized and targeted drug therapy. The primary goals of pharmacogenetic studies are to improve drug efficacy and minimize toxicities, to identify novel drug targets, to estimate drug dosage for personalized medicine, and to incorporate it as a routine diagnostic for disease susceptibility. Although pharmacogenetics has numerous applications in individualized drug therapy and drug development, it is in its infancy in veterinary medicine. The objective of this review is to present an overview of historical landmarks, current developments in various animal species, challenges and future perspectives of genomics in drug development and dosage optimization for individualized medicine in veterinary subjects.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13376","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138290158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of genomic regions associated with differences in fleece type in Huacaya and Suri alpacas (Vicugna pacos) 华卡亚羊驼和苏里羊驼羊毛类型差异相关基因组区域的鉴定。
IF 2.4 3区 生物学
Animal genetics Pub Date : 2023-11-20 DOI: 10.1111/age.13377
K. Tan, O. O. Adeniyi, A. Letko, G. RuddGarces, E. Manz, H. Wagner, P. Zanolari, C. Drögemüller, G. Lühken
{"title":"Identification of genomic regions associated with differences in fleece type in Huacaya and Suri alpacas (Vicugna pacos)","authors":"K. Tan,&nbsp;O. O. Adeniyi,&nbsp;A. Letko,&nbsp;G. RuddGarces,&nbsp;E. Manz,&nbsp;H. Wagner,&nbsp;P. Zanolari,&nbsp;C. Drögemüller,&nbsp;G. Lühken","doi":"10.1111/age.13377","DOIUrl":"10.1111/age.13377","url":null,"abstract":"<p>The difference in fleece type is the distinguishing trait between the two types of alpacas (<i>Vicugna pacos</i>), Huacaya and Suri. The Suri fleece type has been found to be inherited dominantly over the Huacaya type, resulting in offspring with the Suri phenotype. The aim of our study was to map genomic regions associated with the two different fleece types. In this study, 91 alpacas (54 Huacayas and 37 Suris) from Germany and Switzerland were genotyped using the 76k alpaca SNP array. Only 59k chromosome-localised markers map to the alpaca reference assembly VicPac3.1, and after quality control 49 866 SNPs, were retained for population structure assessment and to conduct a genome-wide association study. Both principal component and neighbour-joining tree analysis showed that the two fleece-type cohorts overlapped rather than forming two distinct clusters. Genome-wide significantly associated markers were observed in the scaffold region of chromosome 16 (NW_021964192.1), which contains a cluster of keratin genes. A haplotype predominantly found in Suri alpacas has been identified which supports dominant inheritance. Variant filtering of nine whole-genome sequenced alpacas from both fleece types in the critical interval of 0.4 Mb did not reveal perfect segregation of either fleece type for specific variants. To our knowledge, this is the first study to use the recently developed species-specific SNP array to identify genomic regions associated with differences in fleece type in alpacas. There are still some limitations, such as the preliminary status of the reference assembly and the incomplete annotation of the alpaca genome.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13377","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138175382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of selection genotype on immune response to Brucella abortus RB51 in Holstein cattle 选择基因型对荷斯坦牛流产布鲁氏菌RB51免疫反应的影响。
IF 2.4 3区 生物学
Animal genetics Pub Date : 2023-11-09 DOI: 10.1111/age.13372
Kaitlyn M. Sarlo Davila, Paola Boggiatto, Steven Olsen, John D. Lippolis, Brian A. Crooker, Ellie J. Putz
{"title":"Effect of selection genotype on immune response to Brucella abortus RB51 in Holstein cattle","authors":"Kaitlyn M. Sarlo Davila,&nbsp;Paola Boggiatto,&nbsp;Steven Olsen,&nbsp;John D. Lippolis,&nbsp;Brian A. Crooker,&nbsp;Ellie J. Putz","doi":"10.1111/age.13372","DOIUrl":"10.1111/age.13372","url":null,"abstract":"<p>Genetic selection for milk production traits in US Holsteins has affected numerous genes associated with reproduction and immunity. This study compares the transcriptomic response of peripheral blood mononuclear cells to an in vitro <i>Brucella abortus</i> strain RB51 (RB51) bacterial challenge between contemporary Holsteins and Holsteins that have not been selected for milk production traits since the mid-1960s. Total RNA was extracted from peripheral blood mononuclear cells from four contemporary and four unselected lactating, primiparous cows following 24-h incubation with or without stimulation with RB51 bacteria. RNA was sequenced and reads analyzed using tools from galaxy.scinet.usda.gov. A total of 412 differentially expressed genes (false discovery rate <i>p</i> &lt; 0.05, log fold change &gt; |1|) were identified. The upregulated genes (genes with higher expression in contemporary than unselected cattle) were enriched for 19 terms/pathways, including alanine, aspartate, and glutamate metabolism, indicating a cellular stress response. Downregulated genes (genes with higher expression in unselected than contemporary cows) were enriched for 37 terms/pathways, representing diverse immune responses, including natural killer cell-mediated immunity, interferon-γ production, negative regulation of interleukin-10 production, and cytokine receptor activity indicating a broad immune response with an emphasis on immune defense. These results provide evidence that differences exist between the two genotypes in response to in vitro bacterial challenge. This suggests that contemporary cows, genetically selected for milk production, may have reduced immune function, including limitations in response to intracellular bacteria.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13372","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72013204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
No trade-off between growth and OsHV-1 tolerance in Pacific oysters (Crassostrea gigas) farmed on the West Coast, USA 在美国西海岸养殖的太平洋牡蛎(Crassostrea gigas)的生长和OsHV-1耐受性之间没有权衡。
IF 2.4 3区 生物学
Animal genetics Pub Date : 2023-11-03 DOI: 10.1111/age.13375
Konstantin Divilov, Blaine Schoolfield, Noah Merz, Chris Langdon
{"title":"No trade-off between growth and OsHV-1 tolerance in Pacific oysters (Crassostrea gigas) farmed on the West Coast, USA","authors":"Konstantin Divilov,&nbsp;Blaine Schoolfield,&nbsp;Noah Merz,&nbsp;Chris Langdon","doi":"10.1111/age.13375","DOIUrl":"10.1111/age.13375","url":null,"abstract":"<p>An important pathogen of concern for Pacific oyster growers in the USA is ostreid herpesvirus 1 (OsHV-1). Currently, oyster stocks exist that are tolerant to OsHV-1; however, it is uncertain if a trade-off exists between their tolerance to OsHV-1 and their growth in different environments. To investigate any potential trade-offs, Pacific oyster families with varying levels of OsHV-1 tolerance were grown in a bay where OsHV-1 is endemic (Tomales Bay, CA) and in a bay where OsHV-1 is absent (Willapa Bay, WA). In Tomales Bay, we found that oysters from OsHV-1 tolerant families grew faster than oysters from OsHV-1 susceptible families, while in Willapa Bay, no statistically significant difference in growth was found between oyster families with different levels of OsHV-1 tolerance observed in Tomales Bay. These findings indicate that Pacific oysters bred to be tolerant to OsHV-1 would not be expected to have a longer time-to-market regardless of the presence of OsHV-1 in the growing environment.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13375","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71419932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MFSD2A frameshift variant in Kerry Hill sheep with microcephaly 小头症Kerry Hill绵羊的MFSD2A移码变体。
IF 2.4 3区 生物学
Animal genetics Pub Date : 2023-11-03 DOI: 10.1111/age.13374
Gabriela Rudd Garces, Anna Letko, Irene M. Häfliger, Jana Müller, Christiane Herden, Anne Nesseler, Henrik Wagner, Martin J. Schmidt, Cord Drögemüller, Gesine Lühken
{"title":"MFSD2A frameshift variant in Kerry Hill sheep with microcephaly","authors":"Gabriela Rudd Garces,&nbsp;Anna Letko,&nbsp;Irene M. Häfliger,&nbsp;Jana Müller,&nbsp;Christiane Herden,&nbsp;Anne Nesseler,&nbsp;Henrik Wagner,&nbsp;Martin J. Schmidt,&nbsp;Cord Drögemüller,&nbsp;Gesine Lühken","doi":"10.1111/age.13374","DOIUrl":"10.1111/age.13374","url":null,"abstract":"<p>Microcephaly is a rare neurodevelopmental disorder characterized by reduced skull circumference and brain volume that occurs sporadically in farm animals. We investigated an early-onset neurodegenerative disorder observed in seven lambs of purebred Kerry Hill sheep. Clinical signs included inability to stand or severe ataxia, convulsions, and early death. Diagnostic imaging and brain necropsy confirmed microcephaly. The pedigree of the lambs suggested monogenic autosomal recessive inheritance. We sequenced the genome of one affected lamb, and comparison with 115 control genomes revealed a single private protein-changing variant. This frameshift variant, <i>MFSD2A</i>: c.285dupA, p.(Asp96fs*9), represents a 1-bp duplication predicted to truncate 80% of the open reading frame. MFSD2A is a transmembrane protein that is essential for maintaining blood–brain barrier homeostasis and plays a key role in regulating brain lipogenesis. Human <i>MFSD2A</i> pathogenic variants are associated with a neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA, OMIM 616486). Here we present evidence for the occurrence of a recessively inherited form of microcephaly in sheep due to a loss-of-function variant in <i>MFSD2A</i> (OMIA 002371-9940). To the best of our knowledge, this is the first report of a spontaneous <i>MFSD2A</i> variant in domestic animals.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71419931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
RNA sequencing analysis reveals that missense mutation in SOX10 is associated with iris color phenotype in quail RNA测序分析表明SOX10的错义突变与鹌鹑虹膜颜色表型有关。
IF 2.4 3区 生物学
Animal genetics Pub Date : 2023-10-31 DOI: 10.1111/age.13371
Shiwei Ren, Xiaohui Zhang, Youzhi Pang, Yanxia Qi, Linke Huo, Fanghu Wu, Yuanyuan Shang, Jinquan Xi
{"title":"RNA sequencing analysis reveals that missense mutation in SOX10 is associated with iris color phenotype in quail","authors":"Shiwei Ren,&nbsp;Xiaohui Zhang,&nbsp;Youzhi Pang,&nbsp;Yanxia Qi,&nbsp;Linke Huo,&nbsp;Fanghu Wu,&nbsp;Yuanyuan Shang,&nbsp;Jinquan Xi","doi":"10.1111/age.13371","DOIUrl":"10.1111/age.13371","url":null,"abstract":"<p>To investigate the molecular mechanisms underlying the differences in iris color in quail, the transcriptome of iris tissue from black quail and Korean quail at day 10 of hatching was RNA sequenced in this study. The differentially expressed genes (DEGs) were screened, functionally annotated and enriched after the quality control and mapping of the raw data. RT-qPCR validation was performed using <i>EIF2S3</i> as an internal reference gene. The screened SNPs were studied by bioinformatics analysis and iris color correlation analysis. The results showed that there were 425 upregulated genes and 364 downregulated genes in 789 DEGs. Gene Ontology (GO) enrichment analysis revealed that 139 DEGs were significantly enriched in 154 GO terms. The Kyoto Encyclopedia of Genes and Genomes enrichment results showed that the Notch signaling pathway, melanogenesis and tyrosine metabolism were associated with pigment synthesis (<i>p</i> &lt; 0.05). The expression levels of the <i>ASIP</i>, <i>MLPH</i>, <i>PMEL</i>, <i>TYR</i> and <i>SOX10</i> genes were significantly different in black quail iris and Korean quail iris, as verified by RT-qPCR. The <i>SOX10</i> gene c.324G&gt;C mutation, which caused the replacement of p.Glu108Asp, had a highly significant correlation with iris color in black quail and Korean quail, which may be one of the reasons for different in iris color between these two quail species.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71410299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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