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Characterization of Lipizzan Horse Population From Lipica Stud Using Molecular and Pedigree Data. 利用分子和系谱数据分析利皮察种马种群特征。
IF 2.2 3区 生物学
Animal genetics Pub Date : 2026-08-01 DOI: 10.1002/age.70182
Tamara Ferme, Minja Zorc, Marko Cotman, Matjaž Mesarič, Peter Dovč
{"title":"Characterization of Lipizzan Horse Population From Lipica Stud Using Molecular and Pedigree Data.","authors":"Tamara Ferme, Minja Zorc, Marko Cotman, Matjaž Mesarič, Peter Dovč","doi":"10.1002/age.70182","DOIUrl":"10.1002/age.70182","url":null,"abstract":"<p><p>In this study, we analysed genetic diversity, population structure and inbreeding in the Lipica Stud Farm population by integrating pedigree records, microsatellite (STR) and genome-wide SNP data generated using the GGP Equine 70K BeadChip. The dataset comprised 233 horses from the Lipica Stud Farm, which served as the reference population for comparisons of diversity estimates based on pedigree-, STR- and SNP data. The STR data were originally generated for routine parentage verification and were included here to compare inbreeding estimates based on pedigree, STR and genome-wide SNP data. Pedigrees of the analysed horses were traced back to the 18th century, with the longest ancestral path spanning 35 generations. The mean pedigree inbreeding coefficient in the reference population was 11.55%, while ancestral inbreeding coefficients ranged from 5.93% to 15.42%. Microsatellite analyses revealed an average observed heterozygosity (Ho) of 0.68 and a mean of 5.9 alleles per locus, with STR-based inbreeding (F<sub>STR</sub>) ranging from 0.10 to 0.15. However, genomic inbreeding estimated from runs of homozygosity (F<sub>ROH</sub>) varied between 0.09 and 0.28, with an average of 0.16. Selection signature analysis identified several putative candidate regions, whereas integrated haplotype score (iHS) analysis highlighted three candidate protein-coding genes (ZNF114, DENND5A, and TENM4). The ROH islands contained 24 genes previously associated with pigmentation, reproduction, muscle function, and other biologically relevant traits in horses. These results provide a comprehensive genomic characterisation of the Lipica Stud Farm population and offer important insights into genetic diversity and inbreeding patterns in the Lipizzan breed.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 4","pages":"e70182"},"PeriodicalIF":2.2,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13467334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148719543","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
Multi-Omics Integration Identifies ABCD4 as a Key Regulator of Backfat Thickness and Lipid Deposition in Pietrain Pigs. 多组学整合鉴定ABCD4是猪背膘厚度和脂质沉积的关键调节因子。
IF 2.2 3区 生物学
Animal genetics Pub Date : 2026-08-01 DOI: 10.1002/age.70179
Quanjun Zhan, Hong Xie, He Han, Zhenyang Zhang, Ran Wei, Haixia Li, Wei Zhao, Bo Feng, Xiaoliang Hou, Jianlan Wang, Yongqi He, Yan Fu, Xiaoling Guo, Yuchun Pan, Chong Cao, Zhe Zhang
{"title":"Multi-Omics Integration Identifies ABCD4 as a Key Regulator of Backfat Thickness and Lipid Deposition in Pietrain Pigs.","authors":"Quanjun Zhan, Hong Xie, He Han, Zhenyang Zhang, Ran Wei, Haixia Li, Wei Zhao, Bo Feng, Xiaoliang Hou, Jianlan Wang, Yongqi He, Yan Fu, Xiaoling Guo, Yuchun Pan, Chong Cao, Zhe Zhang","doi":"10.1002/age.70179","DOIUrl":"10.1002/age.70179","url":null,"abstract":"<p><p>The commercial pork production sector prioritizes genetic improvements in lean meat percentage to enhance profitability and meet consumer preferences. The Pietrain pig, a premier terminal sire breed renowned for its exceptional muscularity and leanness, serves as an ideal model to decipher the genetic underpinnings of these traits. This study investigated two key measures of leanness, backfat thickness and loin muscle depth, in two distinct Pietrain populations to elucidate the genetic architecture underlying these traits. We estimated genetic parameters and performed a meta-analysis of genome-wide association studies, identifying ABCD4, LTBP2, NUMB, and SLC30A9 as candidate genes. To further investigate these associations, we integrated information on molecular quantitative trait loci from the PigGTEx project and single-cell transcriptomic resources. This integrative approach prioritized ABCD4 as a key candidate gene regulating backfat thickness. Functional validation in 3T3-L1 preadipocytes revealed a novel dual regulatory role for ABCD4: its knockdown suppressed cell proliferation while simultaneously stimulating adipogenic differentiation, as demonstrated by the upregulation of key markers. Our findings positioned ABCD4 as a critical modulator of fat deposition, likely through its influence on the core adipogenic transcriptional network. By establishing an analytical framework that integrates large-scale sequencing data from Pietrain pigs with functional validation, our study addresses a key gap in understanding the genetic basis of leanness and provides novel insights for precision breeding.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 4","pages":"e70179"},"PeriodicalIF":2.2,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13433985/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148668300","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
Ecdysone and Hydroxyurea Induced Gene Regulation on Polytene Chromosome Puffing, Glue Protein Expression, and Pupation Site Preference in Drosophila melanogaster. 蜕皮激素和羟基脲诱导的基因调控黑腹果蝇多烯染色体膨化、胶蛋白表达和化蛹位点偏好。
IF 2.2 3区 生物学
Animal genetics Pub Date : 2026-08-01 DOI: 10.1002/age.70176
Janu Waghmore, Nanjaiah Shivanna
{"title":"Ecdysone and Hydroxyurea Induced Gene Regulation on Polytene Chromosome Puffing, Glue Protein Expression, and Pupation Site Preference in Drosophila melanogaster.","authors":"Janu Waghmore, Nanjaiah Shivanna","doi":"10.1002/age.70176","DOIUrl":"10.1002/age.70176","url":null,"abstract":"<p><p>Gene regulation plays a crucial role in coordinating developmental processes and behavioral responses in Drosophila melanogaster. This study investigates the impact of HU and Ecdysone induced modulation of gene expression on polytene chromosome puffing patterns, salivary gland glue protein synthesis, and pupation site preference. Larvae were exposed to Hydroxyurea and Ecdysone known to alter transcriptional activity, and subsequent changes in chromosomal puff sites were examined. Variations in glue protein expression were quantified, and alterations in pupation site preference were assessed. These findings suggest that chromosomal puffs (23B and 25C on 2L arm and 62E and 63E on 3L arm) and protein synthesis in Ecdysone treated larvae were increased whereas, in hydroxyurea treated larvae it is decreased. The above puffs are associated with glue protein synthesis and alteration in these puffs lead to variation in larval pupation site preference behavior.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 4","pages":"e70176"},"PeriodicalIF":2.2,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13430126/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148663518","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
Preliminary Analysis of CpG, CHG and CHH Methylation in the Mitochondrial Control Region of Dogs With Malignant Mammary Gland Tumours. 犬乳腺恶性肿瘤线粒体控制区CpG、CHG和CHH甲基化的初步分析
IF 2.2 3区 生物学
Animal genetics Pub Date : 2026-08-01 DOI: 10.1002/age.70178
Krzysztof Kowal, Kaja Ziółkowska-Twarowska, Angelika Tkaczyk-Wlizło, Carlos Vaamonde-García, Mercedes Fernández-Moreno, Brygida Ślaska
{"title":"Preliminary Analysis of CpG, CHG and CHH Methylation in the Mitochondrial Control Region of Dogs With Malignant Mammary Gland Tumours.","authors":"Krzysztof Kowal, Kaja Ziółkowska-Twarowska, Angelika Tkaczyk-Wlizło, Carlos Vaamonde-García, Mercedes Fernández-Moreno, Brygida Ślaska","doi":"10.1002/age.70178","DOIUrl":"10.1002/age.70178","url":null,"abstract":"<p><p>Canine mammary tumours (CMTs) are one of the most frequently observed malignancies in female dogs. Many studies have investigated epigenetic changes in CMT at the nuclear level, yet the role of mtDNA methylation, particularly in the D-loop region, remains largely unexplored. Given the significant importance of the D-loop region in mtDNA replication and transcription, and the previous identification of CpG enrichment there, this preliminary study aimed to assess apparent methylation signals in the mitochondrial D-loop region. We examined CpG, CHG and CHH methylation contexts in matched tumour and normal tissues from six German Shepherd dogs with histologically classified mammary carcinomas using enzymatic methyl-sequencing and high-throughput amplicon sequencing. Overall, CpG and CHH contexts exhibited greater variability between tumour and normal tissues than CHG, which remained relatively stable. Correlation analyses revealed a putative positive relationship between differences in CpG and CHH methylation (Spearman's r = 0.829, p = 0.042). This might suggest a coordinated epigenetic modulation of these two methylation patterns in the carcinogenesis process, yet due to the limited study group (n = 6) the hypothesis should be verified on a larger cohort. These findings demonstrate a plausible existence of intra-individual epigenetic divergence at the mitochondrial level. To our knowledge, this is the first study to assess the influence of mtDNA methylation on CMT, and it supports further investigation of mitochondrial epigenetics in canine oncology.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 4","pages":"e70178"},"PeriodicalIF":2.2,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13433128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148668238","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
SOAT1 Nonsense Variant in a Cat With Sebaceous Gland Dysplasia. 猫皮脂腺发育不良的SOAT1无意义变异。
IF 2.2 3区 生物学
Animal genetics Pub Date : 2026-08-01 DOI: 10.1002/age.70180
Lia Kammermann, Joanne K Mansell, Barbara G McMahill, Verena K Affolter, Vidhya Jagannathan, Tosso Leeb
{"title":"SOAT1 Nonsense Variant in a Cat With Sebaceous Gland Dysplasia.","authors":"Lia Kammermann, Joanne K Mansell, Barbara G McMahill, Verena K Affolter, Vidhya Jagannathan, Tosso Leeb","doi":"10.1002/age.70180","DOIUrl":"10.1002/age.70180","url":null,"abstract":"<p><p>We investigated a random-bred cat with sebaceous gland dysplasia. The cat presented with hypotrichosis and dark crusts on the skin. Histopathologically, sebaceous glands were enlarged and had an abnormal morphology with an increased number of undifferentiated reserve cells. Whole genome sequence analysis of the affected cat and comparison to 106 genomes of genetically diverse cats revealed a private homozygous nonsense variant in the functional candidate gene SOAT1 encoding sterol O-acyltransferase 1, XM_011291017.4:c.1221G>A or XP_011289319.1:p.(Trp407*). Based on the known role of SOAT1 in sebaceous gland function, the identified variant most likely represents the cause for the phenotype. To the best of our knowledge, we report the second pathogenic SOAT1 variant in cats. These results enable diagnostic genetic testing should any new cases come under veterinary care, detection of unaffected carrier animals, and strengthen the gene-phenotype relationship between SOAT1 and sebaceous gland dysplasias.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 4","pages":"e70180"},"PeriodicalIF":2.2,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13456967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148705076","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
The Role of Cold Shock Protein (CSP) Gene Family in Yak (Bos grunniens) for High-Altitude Adaptation: Genome-Wide Identification and Analysis. 牦牛冷休克蛋白(CSP)基因家族在高原适应中的作用:全基因组鉴定与分析。
IF 2.2 3区 生物学
Animal genetics Pub Date : 2026-08-01 DOI: 10.1002/age.70174
Yixuan Tang, Yufei Zan, Ziqiang Ding, Yi Liu, Fengcheng Song, Caiwei Ma, Xiangran Gu, Zhengrong Yuan, Xian Guo, Yi Ma
{"title":"The Role of Cold Shock Protein (CSP) Gene Family in Yak (Bos grunniens) for High-Altitude Adaptation: Genome-Wide Identification and Analysis.","authors":"Yixuan Tang, Yufei Zan, Ziqiang Ding, Yi Liu, Fengcheng Song, Caiwei Ma, Xiangran Gu, Zhengrong Yuan, Xian Guo, Yi Ma","doi":"10.1002/age.70174","DOIUrl":"10.1002/age.70174","url":null,"abstract":"<p><p>Cold shock proteins (CSPs) play important roles in cellular adaptation to environmental stress. However, their characteristics and potential roles in yak (Bos grunniens), a species adapted to high-altitude environments, remain poorly understood. In this study, a genome-wide identification and comparative analysis of the CSP gene family was performed primarily using bioinformatics approaches based on publicly available genomic and transcriptomic datasets, along with a preliminary validation of their differential expression under cold and hypoxic stress. A total of 14 CSP genes were identified in the yak genome. Phylogenetic analysis across eight bovine species classified these genes into nine distinct clusters, revealing evolutionary conservation within the CSP family. Structural analyses showed variation in exon-intron organization and conserved motifs associated with stress responses. Protein-protein interaction (PPI) network analysis further suggested potential functional interactions between CSPs and key regulatory proteins. Tissue transcriptomic data indicated distinct expression patterns of CSP genes across multiple tissues. To provide experimental support for these findings, Reverse Transcription Quantitative Polymerase Chain Reaction (RT-qPCR) analysis was conducted in yak preadipocytes exposed to cold and hypoxic stress, revealing significant upregulation of several CSP genes. Together, these results provide a comprehensive overview of the CSP gene family in yak and offer insights into their potential roles in high-altitude adaptation in bovine species.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 4","pages":"e70174"},"PeriodicalIF":2.2,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13446996/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148683526","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 Reveals Candidate Genes Associated With the Intensity of Green Eggshell Color in Chickens. 全基因组关联研究揭示与鸡绿蛋壳颜色强度相关的候选基因。
IF 2.2 3区 生物学
Animal genetics Pub Date : 2026-08-01 DOI: 10.1002/age.70171
Yongguang Zhou, Shenjun Wu, Jiaxuan Zhang, Xi Cao, Chi Zhang, Sirui Chen, Haigang Bao, Junying Li
{"title":"Genome-Wide Association Study Reveals Candidate Genes Associated With the Intensity of Green Eggshell Color in Chickens.","authors":"Yongguang Zhou, Shenjun Wu, Jiaxuan Zhang, Xi Cao, Chi Zhang, Sirui Chen, Haigang Bao, Junying Li","doi":"10.1002/age.70171","DOIUrl":"10.1002/age.70171","url":null,"abstract":"<p><p>Eggshell color is an important economic trait in poultry. In green-eggshell chickens, eggshell color intensity is primarily determined by the amount of biliverdin deposited in the shell, but its genetic basis remains unclear. In this study, 230 Dongxiang green-eggshell chickens at 29 weeks of age were genotyped for the green-shell locus. Homozygous green-shell individuals were identified and subjected to a genome-wide association study (GWAS) using eggshell biliverdin concentration as the phenotype. The results showed that all 230 individuals were homozygous for the green-shell genotype, and eggshell biliverdin concentration was approximately normally distributed in the population. GWAS identified seven SNPs that exceeded the genome-wide significance threshold within a 110-kb region (3035804-3143838 bp) on chromosome 12. Functional annotation of the significant loci identified ALAS1 as a candidate gene. ALAS1 encodes the rate-limiting enzyme in heme biosynthesis and is therefore biologically linked to biliverdin production. Haplotype analysis further revealed a strong linkage block encompassing the ALAS1 region, supporting its potential role in regulating green eggshell color intensity. These findings provide candidate genetic markers for improving green eggshell color intensity in breeding programs.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 4","pages":"e70171"},"PeriodicalIF":2.2,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13457112/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148705004","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
Telomere Dynamics and Cortisol Response in Grazing Goats: Preliminary Insights Into Welfare Monitoring 放牧山羊的端粒动力学和皮质醇反应:福利监测的初步见解
IF 2.2 3区 生物学
Animal genetics Pub Date : 2026-07-29 DOI: 10.1002/age.70167
Alessandra Iannuzzi, Ramona Pistucci, Maria Liccardo, Piera Iommelli, Raffaella Tudisco, Federico Infascelli, Fiorella Sarubbi
{"title":"Telomere Dynamics and Cortisol Response in Grazing Goats: Preliminary Insights Into Welfare Monitoring","authors":"Alessandra Iannuzzi,&nbsp;Ramona Pistucci,&nbsp;Maria Liccardo,&nbsp;Piera Iommelli,&nbsp;Raffaella Tudisco,&nbsp;Federico Infascelli,&nbsp;Fiorella Sarubbi","doi":"10.1002/age.70167","DOIUrl":"https://doi.org/10.1002/age.70167","url":null,"abstract":"<p>This study evaluated telomere length (TL) and serum cortisol concentration (SCC) as complementary stress biomarkers in grazing dairy goats. Twenty pluriparous “Camosciata delle Alpi” goats were monitored under extensive conditions at three 15-day intervals. Milk-derived DNA was used to assess TL by quantitative PCR; SCC was measured by enzyme immunoassay. Environmental parameters were recorded throughout the trial. SCC rose from 5.84 to 12.93 ng/mL at the second sampling, coinciding with adverse weather, and returned to baseline thereafter. TL decreased from 1.21 to 0.92 (telomere-to-single-copy gene—T/S ratio) before recovering to 1.16. TL was negatively correlated with humidity and dew point, and positively correlated with rainfall, suggesting that moisture-related stressors influence TL dynamics. These findings indicate that acute environmental challenges induce transient telomere shortening. Integrating TL and SCC provides a more comprehensive welfare assessment, with TL emerging as a promising non-invasive genomic biomarker for stress and resilience in pasture-based livestock systems.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 4","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/age.70167","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148616379","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
Nuclear Stress Bodies and Mitochondrial Signal Transduction Regulate Thermotolerance in Cattle: Insights Into Molecular Mechanisms 核应激体和线粒体信号转导调节牛的耐热性:分子机制的见解。
IF 2.2 3区 生物学
Animal genetics Pub Date : 2026-07-24 DOI: 10.1002/age.70169
David Olusola Aderibigbe, Jesse Oluwaseun Ayantoye, Obianwuna Uchechukwu Edna, Osamede Henry Osaiyuwu
{"title":"Nuclear Stress Bodies and Mitochondrial Signal Transduction Regulate Thermotolerance in Cattle: Insights Into Molecular Mechanisms","authors":"David Olusola Aderibigbe,&nbsp;Jesse Oluwaseun Ayantoye,&nbsp;Obianwuna Uchechukwu Edna,&nbsp;Osamede Henry Osaiyuwu","doi":"10.1002/age.70169","DOIUrl":"10.1002/age.70169","url":null,"abstract":"<p>Heat stress represents a major threat to cattle productivity, welfare, immune competence, and sustainability under climate change. Although genomic studies have identified loci associated with thermoregulatory traits, sequence variation alone does not explain the rapid, reversible cellular adaptations required during acute thermal challenge. Increasing evidence suggests that thermotolerance depends on coordinated regulation between nuclear transcriptional architecture and mitochondrial metabolic stability. This review synthesizes mechanistic insights into two interconnected regulatory axes: heat shock factor 1 (HSF1)–dependent nuclear stress body (nSB) formation and mitochondrial–nuclear signaling. During thermal exposure, HSF1 reorganizes chromatin through phase-separated nuclear condensates, amplifying stress-inducible transcription. Concurrently, mitochondrial perturbation alters reactive oxygen species production, calcium flux, and ATP availability, thereby influencing chromatin accessibility and transcription factor activity. Experimental studies in mammalian systems demonstrate that oxidative signaling modulates HSF1 DNA-binding competence, while mitochondrial metabolites regulate histone acetylation and demethylation, linking energetic status to transcriptional plasticity. These cross-compartmental processes determine whether cells maintain proteostasis and recover or progress toward apoptotic and inflammatory outcomes. Although direct characterization in cattle remains limited, breed-level differences in heat shock protein induction, mitochondrial ROS handling, and mtDNA haplotypes suggest meaningful variation in regulatory resilience. The efficiency of coordination between nuclear activation and mitochondrial stabilization may therefore represent a critical determinant of thermotolerance. We further frame thermotolerance as a resource-allocation trait, reflecting energetic partitioning among milk synthesis, immune function, reproduction, and stress protection in high-producing dairy cattle. Understanding these cross-compartmental regulatory mechanisms may support future studies identifying biomarkers and genomic targets for improving heat resilience in cattle.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 4","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13396976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148576925","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
The Mottling Phenotype in Chickens Shows Genetic Heterogeneity and Is Caused by Mutations at the EDNRB2 Locus 鸡的斑驳表型具有遗传异质性,是由EDNRB2位点突变引起的
IF 2.2 3区 生物学
Animal genetics Pub Date : 2026-07-17 DOI: 10.1002/age.70168
Jingyi Li, Chiara Bortoluzzi, McKaela Hodge, Bertrand Bed'hom, Yifan Guo, Brian Davis, Benjamin Dorshorst, Paul Siegel, David Gourichon, Michèle Tixier-Boichard, Leif Andersson
{"title":"The Mottling Phenotype in Chickens Shows Genetic Heterogeneity and Is Caused by Mutations at the EDNRB2 Locus","authors":"Jingyi Li,&nbsp;Chiara Bortoluzzi,&nbsp;McKaela Hodge,&nbsp;Bertrand Bed'hom,&nbsp;Yifan Guo,&nbsp;Brian Davis,&nbsp;Benjamin Dorshorst,&nbsp;Paul Siegel,&nbsp;David Gourichon,&nbsp;Michèle Tixier-Boichard,&nbsp;Leif Andersson","doi":"10.1002/age.70168","DOIUrl":"https://doi.org/10.1002/age.70168","url":null,"abstract":"<p>Mottling is a widespread intra-feather pattern present in many breeds of domestic chickens worldwide and inherited as an autosomal recessive trait. An amino acid substitution Arg332His in the <i>EDNRB2</i> gene was previously reported as responsible for the mottling phenotype in several Japanese breeds of chickens. Here, we show that this substitution is not causal for mottling in Mottled Houdan chicken, a breed that originated in France. A strong association between a 230 kb region harboring the <i>EDNRB2</i> gene and the mottling phenotype was documented by linkage mapping. After the screening of SNPs, indels, and structural variants in this region via whole genome sequencing, a missense mutation Ala228Thr of <i>EDNRB2</i> showed complete association in Mottled Houdan, and three other mottling breeds. It was also associated with the mottled phenotype in an experimental chicken line segregating for the phenotype. Furthermore, we documented significant allelic imbalance of <i>EDNRB2</i> in heterozygous birds, implying that regulatory mutation(s) may also contribute to the mottling phenotype. However, no single mutation showed perfect concordance with the mottling phenotype in all mottled breeds, providing evidence for genetic heterogeneity at this locus. We propose that there are at least three different alleles responsible for mottling in chickens. Our results provide an example of parallel evolution of mottling alleles in different breeds of domestic chicken.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"57 4","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/age.70168","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148467437","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
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