Animal genetics最新文献_第9页

Transcriptomic Analysis in the Liver of Two Rabbit Lines Divergently Selected for Intramuscular Fat Content. 两种不同家兔肝脏肌内脂肪含量的转录组学分析。

IF 2.2 3区生物学

Animal genetics Pub Date : 2026-06-01 DOI: 10.1002/age.70143

Jesús Valdés-Hernández, Agostina Zubiri-Gaitán, Marina Martínez-Álvaro, Agustín Blasco, Pilar Hernández

{"title":"Transcriptomic Analysis in the Liver of Two Rabbit Lines Divergently Selected for Intramuscular Fat Content.","authors":"Jesús Valdés-Hernández, Agostina Zubiri-Gaitán, Marina Martínez-Álvaro, Agustín Blasco, Pilar Hernández","doi":"10.1002/age.70143","DOIUrl":"10.1002/age.70143","url":null,"abstract":"The intramuscular fat (IMF) content is an important indicator of meat quality, affecting the sensory properties of meat. IMF is a complex trait with polygenic nature. This research aimed to identify differentially expressed (DE) genes and key transcription factors (TFs) associated with IMF deposition in the liver of two rabbit lines divergently selected for IMF (high-IMF: H and low-IMF: L). We used 48 rabbits (24 H and 24 L) belonging to the 9th generation of selection to determine their liver gene expression levels using 3' RNA sequencing. We found 263 DE genes between H and L lines; 114 upregulated and 149 downregulated in the H line. Among them, over 30 genes were related to lipid metabolism, energy homeostasis, glutathione-purine metabolism, and/or molecule transport that could influence the IMF deposition. Of the 263 DE genes, 175 target genes were predicted for 11 DE TFs through the gene regulatory networks. Notably, three TFs, namely ETV1, NR4A1, and IKZF3 appear to modulate gene expression of several putative targets involved in lipid and energy metabolism (e.g., CREM, GDF15, and NR4A2). Functional analysis of DE genes revealed an overrepresentation of 37 enriched terms, including the PPAR signalling pathway (associated genes: CPT1B, CYP4A6, FABP4, and PLIN2) and other lipid metabolism bioprocesses. Collectively, our results enhance the understanding of the liver-muscle crosstalk that contributes to IMF deposition and improvement of rabbit meat quality.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 3","pages":"e70143"},"PeriodicalIF":2.2,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13265250/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148248987","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

Genetic Evidence of a Recent Decline and Crossbreed Distribution of TRPV4 c.1024G>T Variant in Domestic Cats. 家猫中TRPV4 c.1024G>T变异近期下降及杂交分布的遗传证据

IF 2.2 3区生物学

Animal genetics Pub Date : 2026-06-01 DOI: 10.1002/age.70118

Hisashi Ukawa, Ayako Akashi, Hinako Hayashi, Saaya Hiyoshi-Kanemoto, Haruka Onishi, Kai Ataka, Yuki Matsumoto

{"title":"Genetic Evidence of a Recent Decline and Crossbreed Distribution of TRPV4 c.1024G>T Variant in Domestic Cats.","authors":"Hisashi Ukawa, Ayako Akashi, Hinako Hayashi, Saaya Hiyoshi-Kanemoto, Haruka Onishi, Kai Ataka, Yuki Matsumoto","doi":"10.1002/age.70118","DOIUrl":"10.1002/age.70118","url":null,"abstract":"The folded ear phenotype of Scottish Fold cats is associated with an autosomal dominant TRPV4 variant (c.1024G>T) linked to osteochondrodysplasia. Although genetic testing has been implemented to guide breeding, empirical evidence of its impact on allele frequency remains limited, and crossbreed investigations are lacking. Here, we evaluated longitudinal changes in TRPV4 c.1024G>T allele frequencies in Scottish Folds and surveyed the variant in 8610 cats from 14 breeds in Japan. Overall, between 2017 and 2024, the proportion of homozygous cats significantly declined (from 14.2% to 1.9%, p < 0.001), whereas the frequency of heterozygous cats remained stable (39.3% vs. 51.5%, p > 0.74). The variant was identified primarily in Scottish Folds but was also detected in American Curls, Norwegian Forest Cats, Munchkins, and Minuets. Taken together, our results highlight that integrating TRPV4 c.1024G>T genotyping into breeding programs can effectively reduce the prevalence of this hereditary disorder, and they warrant the expansion of genetic testing to additional breeds.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 3","pages":"e70118"},"PeriodicalIF":2.2,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13158167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147866398","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

Integrative Multi-Omics Analysis Identifies Novel Enhancer Variants on SSC2 Associated With Backfat Thickness in Landrace Pigs. 综合多组学分析发现与长猪背膘厚度相关的SSC2新增强子变异。

IF 2.1 3区生物学

Animal genetics Pub Date : 2026-06-01 DOI: 10.1002/age.70141

Xigang Feng, Xiuqi Zhou, Hao Liang, Jingjin Li, Mei Yu, Shuhong Zhao, Xinyun Li, Xiaoping Li

{"title":"Integrative Multi-Omics Analysis Identifies Novel Enhancer Variants on SSC2 Associated With Backfat Thickness in Landrace Pigs.","authors":"Xigang Feng, Xiuqi Zhou, Hao Liang, Jingjin Li, Mei Yu, Shuhong Zhao, Xinyun Li, Xiaoping Li","doi":"10.1002/age.70141","DOIUrl":"10.1002/age.70141","url":null,"abstract":"Backfat thickness is an economically important trait in pig production, yet the functional regulatory variants underlying it remain poorly characterized. Here, we performed a genome-wide association study (GWAS) for backfat thickness at 100 kg (BF100) in a large Landrace population (n = 5923) using 13.46 million imputed SNPs. We identified two significant quantitative trait loci (QTLs) on SSC2 (1.21-3.69 Mb; explaining 2.3% of phenotypic variance) and SSC12 (51.70-52.88 Mb; explaining 0.8% of phenotypic variance). While nonsynonymous SNPs were limited (16 variants), we prioritized functional non-coding variants by integrating high-resolution Hi-C interaction maps, epigenomic marks, and previously published enhancer and promoter annotation results from public backfat datasets. This multi-omics strategy revealed that the SSC2 QTL functions as an active three-dimensional regulatory hub, with over 20 enhancer-promoter loops physically engaging the promoters of IGF2, CTSD, TSPAN32, and TSSC4. Similarly, the SSC12 QTL formed more than 10 long-range interactions with the promoters of ASGR1, YBX2, GPS2, MDPU1, and TP53. Focusing on SSC2, we prioritized two tightly linked SNPs (2-1280617 and 2-1280654) located within a putative enhancer, representing two major haplotypes. Dual-luciferase reporter assays in PK15 and 3T3-L1 cells confirmed that the GG haplotype drives significantly higher transcriptional activity than the AT haplotype (p < 0.001). Consistently, pigs carrying the GG haplotype exhibited significantly lower backfat thickness. By integrating multi-omics and functional assays, this study not only decodes the regulatory architecture of two backfat QTLs but also provides new molecular markers for genetic improvement in Landrace breeding.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 3","pages":"e70141"},"PeriodicalIF":2.1,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148209971","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

Impact of Varying Soybean Oil Concentrations on the Cytokine Profile of Skeletal Muscle and Liver of Pigs: A Systems Biology Approach. 不同豆油浓度对猪骨骼肌和肝脏细胞因子谱的影响：系统生物学方法。

IF 2.2 3区生物学

Animal genetics Pub Date : 2026-06-01 DOI: 10.1002/age.70129

Fernanda Nery Ciconello, Julia Dezen Gomes, Simara Larissa Fanalli, Bárbara Silva-Vignato, Andrezza Maria Felício-Ament, Vivian Vezzoni de Almeida, Cristina Tchorny Moncau-Gadbem, James Eugene Koltes, Christopher Keith Tuggle, Aline Silva Mello Cesar

{"title":"Impact of Varying Soybean Oil Concentrations on the Cytokine Profile of Skeletal Muscle and Liver of Pigs: A Systems Biology Approach.","authors":"Fernanda Nery Ciconello, Julia Dezen Gomes, Simara Larissa Fanalli, Bárbara Silva-Vignato, Andrezza Maria Felício-Ament, Vivian Vezzoni de Almeida, Cristina Tchorny Moncau-Gadbem, James Eugene Koltes, Christopher Keith Tuggle, Aline Silva Mello Cesar","doi":"10.1002/age.70129","DOIUrl":"10.1002/age.70129","url":null,"abstract":"Lipids are important for metabolic processes, mainly cytokine regulation in the skeletal muscle and liver. Considering the soybean oil concentration, a weighted gene co-expression network analysis (WGCNA) was used to perform an integrative analysis in skeletal muscle and liver tissues. Using this approach, this research aimed to investigate the integrative response to soybean oil supplementation in two different tissues to discover molecular responses, especially inflammatory responses. For this integrative analysis, sample collection, RNA sequencing, and WGCNA were carried out on immunocastrated male Large White pigs supplemented with 1.5% or 3.0% soybean oil. Co-expression of some genes was revealed, such as those related to lipid metabolism and phosphotransferase activities in the skeletal muscle, or oxidative stress and methylation in the liver. Thus, we demonstrated that soybean oil supplementation leads to responses in skeletal muscle and liver, revealing that this supplementation improves the metabolism and inflammatory responses of healthy pigs.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 3","pages":"e70129"},"PeriodicalIF":2.2,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13284450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148293224","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

Genetic Diversity of the Beta-Casein Gene in Brown Swiss and Creole Cattle From the Peruvian Highlands. 秘鲁高地棕色瑞士牛和克里奥尔牛β -酪蛋白基因的遗传多样性。

IF 2.2 3区生物学

Animal genetics Pub Date : 2026-06-01 DOI: 10.1002/age.70122

Lucy R Remigio Lorenzo, Cristina Rivera Romero, Joao De Souza Pacheco, Wilder Bueno Cabrera, Eduardo L Fuentes Navarro, Rudolf Pichler, Kathiravan Periasamy, Gustavo A Gutiérrez-Reynoso

{"title":"Genetic Diversity of the Beta-Casein Gene in Brown Swiss and Creole Cattle From the Peruvian Highlands.","authors":"Lucy R Remigio Lorenzo, Cristina Rivera Romero, Joao De Souza Pacheco, Wilder Bueno Cabrera, Eduardo L Fuentes Navarro, Rudolf Pichler, Kathiravan Periasamy, Gustavo A Gutiérrez-Reynoso","doi":"10.1002/age.70122","DOIUrl":"10.1002/age.70122","url":null,"abstract":"Cattle's milk and derivatives are essential for human nutrition. However, up to 90% of people experience gastrointestinal discomfort after consumption. Milk digestibility depends on its protein composition. Casein, about 80% of milk proteins, includes beta-casein (CSN2) with two variants: A1 and A2. The A1 variant is linked to gastrointestinal issues, while A2 is easier to digest. Therefore, some dairy farms now market A2 milk from cattle homozygous for the A2 allele. This study aimed to evaluate the genetic diversity of the CSN2 gene in Brown Swiss and Creole cattle in the Andes of Peru (Junín, Huánuco, Pasco, Ayacucho and Puno). Blood from 445 Brown Swiss and 190 Creole was collected, DNA extracted with a commercial kit, and genotyped using the Axiom Bovine v3 SNP array. The distribution of A1 and A2 alleles and genotypes showed variation across breeds and regions, likely influenced by local breeding practices and selection programs. In Brown Swiss, the average A2 allele frequency was 0.66 (0.60 to 0.73) and the genotypic frequencies of A2A2 was 0.43 (0.35 to 0.52) and the A1A2 frequency was 0.45 (ranged from 0.41 to 0.50). In Creole, the A2 allele frequency was 0.60 (0.55 to 0.66), and the A1A2 genotypic frequency was 0.53 (0.49 to 0.56), being the most common. In conclusion, the frequency of the A2 allele was high in Creole but intermediate in Brown Swiss. These results suggest that the Brown Swiss and Creole have a favorable genetic potential for A2 milk production in the Highlands of Peru.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 3","pages":"e70122"},"PeriodicalIF":2.2,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13184573/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147970036","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

Genomic Variation and Population Structure of Portuguese Native Dog Breeds. 葡萄牙本土犬种的基因组变异和种群结构。

IF 2.2 3区生物学

Animal genetics Pub Date : 2026-06-01 DOI: 10.1002/age.70144

Ludmilla Blaschikoff, Octávio Serra, Fernanda Simões, Catarina Ginja, Ana Elisabete Pires

{"title":"Genomic Variation and Population Structure of Portuguese Native Dog Breeds.","authors":"Ludmilla Blaschikoff, Octávio Serra, Fernanda Simões, Catarina Ginja, Ana Elisabete Pires","doi":"10.1002/age.70144","DOIUrl":"10.1002/age.70144","url":null,"abstract":"The presence of dogs in Portugal is confirmed by zooarchaeological evidence dating to at least 7600 years ago. The 11 native dog breeds that exist in this territory are therefore the end-product of a complex evolutionary process. This study characterises the genomic diversity and population structure of 10 native breeds based on whole-genome sequencing (WGS) data obtained from 46 unrelated dogs (4-6 per breed, 9-16x coverage). These data were merged with public genomes and also downsampled to match the 170 K Illumina Canine HDBeadChip, including an additional 1770 dogs from 211 dog breeds for a worldwide comprehensive population genomics analysis. The results revealed multiple maternal haplotypes distributed across haplogroups A-D, high autosomal diversity, low to moderate inbreeding, breed-specific genomic signatures of evolutionary events, and shallow genetic differentiation ranging from greater homogeneity to intra-breed sub-structure. These results reflect the diverse history of Portuguese dog breeds, such as geographical isolation in the Castro Laboreiro Watchdog, recent admixture between the Algarve Barrocal and Portuguese Warren Hound, shared ancestry in the Alentejo Mastiff, Transmontano Mastiff and Estrela Mountain Dog breeds, and a severe demographic bottleneck in the Portuguese Water Dog. This research emphasises the importance of preserving these breeds for their contribution to the overall genomic diversity of dogs, functional utility and cultural relevance, providing the basis for outlining strategies for the conservation and genetic management of locally well-adapted dog breeds.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 3","pages":"e70144"},"PeriodicalIF":2.2,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13278823/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148275653","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

WWOX Exon 4 Copy Number Gain in Dogs With Testicular or Ovotesticular XX (SRY-Negative) Disorder of Sex Development. 睾丸或卵睾丸XX （sry阴性）性发育障碍犬的WWOX外显子4拷贝数增加

IF 2.1 3区生物学

Animal genetics Pub Date : 2026-06-01 DOI: 10.1002/age.70137

M Sobczak, Z Sawicz, I Szczerbal, M Switonski, J Nowacka-Woszuk

引用次数: 0

Correction to "Additional Evidence Fails to Associate Variation in KCNE4 With Equine Anhidrosis". 更正“补充证据未能将KCNE4变异与马无汗症联系起来”。

IF 2.2 3区生物学

Animal genetics Pub Date : 2026-06-01 DOI: 10.1002/age.70123

引用次数: 0

Mucopolysaccharidosis IIID and Beta-Mannosidosis in Brazilian Anglo-Nubian Goats: Molecular and Genealogical Insights for the Development and Implementation of a Genetic Disease Eradication Program. 巴西盎格鲁-努比亚山羊的粘多糖病iii和β -甘露甘露病：遗传疾病根除计划的发展和实施的分子和家谱见解。

IF 2.2 3区生物学

Animal genetics Pub Date : 2026-06-01 DOI: 10.1002/age.70107

Flávia Caroline Moreira Bezerra, Lívia Samaniely Batista Pereira Belli, Joane Maíra Cavalcante Braga Novais, Adriana Mércia Guaratini Ibelli, Cássia Regina Oliveira Santos, Gisele Veneroni Gouveia, Alexandre Tadeu Mota Macedo, João José de Simoni Gouveia

{"title":"Mucopolysaccharidosis IIID and Beta-Mannosidosis in Brazilian Anglo-Nubian Goats: Molecular and Genealogical Insights for the Development and Implementation of a Genetic Disease Eradication Program.","authors":"Flávia Caroline Moreira Bezerra, Lívia Samaniely Batista Pereira Belli, Joane Maíra Cavalcante Braga Novais, Adriana Mércia Guaratini Ibelli, Cássia Regina Oliveira Santos, Gisele Veneroni Gouveia, Alexandre Tadeu Mota Macedo, João José de Simoni Gouveia","doi":"10.1002/age.70107","DOIUrl":"10.1002/age.70107","url":null,"abstract":"Beta mannosidosis and Mucopolysaccharidosis IIID are two autosomal recessive lysosomal storage diseases identified in Anglo-Nubian goats. Even though they are well characterized from the clinical and molecular point of view, there is a gap in studies aiming to understand distribution and dissemination risk in goat populations throughout the world. Considering this, we developed probe-based qPCR tests and combined it with pedigree analysis to deepen the knowledge related to the distribution of both mutations in Brazilian Anglo-Nubian population. This study revealed, for the first time, that the mutation associated with Mucopolysaccharidosis IIID is segregating in our country, expanding the knowledge of the worldwide distribution of this disease-associated allele. Additionally, the combination of genotyping and pedigree analysis enabled the estimation of additional high-confidence putative genotypes, contributing to the reduction of genotyping costs and highlighting a putative pathway associated with the introduction/dissemination of the Mucopolysaccharidosis IIID-associated allele in Brazil. These results can be considered as an initial basis for the proposition of a program to control/eradicate mutations associated with genetic diseases in Brazilian goat populations.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 3","pages":"e70107"},"PeriodicalIF":2.2,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13101034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147760242","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

Correction to "Genetic Dissection of Production Traits in Commercial Pigs: Comparative Effects of Terminal Sire Lines and Genome-Wide Associations". 更正“商品猪生产性状的遗传解剖：终末父系和全基因组关联的比较效应”。

IF 2.2 3区生物学

Animal genetics Pub Date : 2026-06-01 DOI: 10.1002/age.70135

引用次数: 0