Animal genetics最新文献_第2页

Development of primer-introduced restriction analysis PCR for detecting polymorphism of two cis-regulatory SNPs upstream of ABCG2 conferring blue eggshell trait 引物限制性PCR检测ABCG2上游两个顺式调控snp多态性的建立

IF 1.8 3区生物学

Animal genetics Pub Date : 2025-07-17 DOI: 10.1111/age.70026

Anh Phu Nam Bui, Nguyen Van Hop, Le Minh Thong, Le Quang

引用次数: 0

Elevated serum concentration of anti-Mullerian hormone and its association with SNP variants in the AMH gene in a tortoiseshell tomcat with a disorder of sex development (38,XX; SRY-negative) 性发育障碍的龟甲雄猫血清抗苗勒管激素浓度升高及其与AMH基因SNP变异的关系(38,xx；SRY-negative)

IF 1.8 3区生物学

Animal genetics Pub Date : 2025-07-13 DOI: 10.1111/age.70029

J. Nowacka-Woszuk, I. Szczerbal, A. Szabelska-Beresewicz, J. Zyprych-Walczak, P. Parma, K. Ropka-Molik, M. Jankowska, T. Nowak, M. Okoniewski, M. Stachowiak, N. Rogalska-Niznik, M. Switonski

{"title":"Elevated serum concentration of anti-Mullerian hormone and its association with SNP variants in the AMH gene in a tortoiseshell tomcat with a disorder of sex development (38,XX; SRY-negative)","authors":"J. Nowacka-Woszuk, I. Szczerbal, A. Szabelska-Beresewicz, J. Zyprych-Walczak, P. Parma, K. Ropka-Molik, M. Jankowska, T. Nowak, M. Okoniewski, M. Stachowiak, N. Rogalska-Niznik, M. Switonski","doi":"10.1111/age.70029","DOIUrl":"https://doi.org/10.1111/age.70029","url":null,"abstract":"Testicular disorders of sex development (DSD) in cats with XX sex chromosomes and the absence of the SRY gene are rare congenital abnormalities. A Maine Coon tomcat with a normal penis, gonads in the scrotum, low serum testosterone concentration, and an elevated level of anti-Müllerian hormone (AMH) was subjected to genetic analyses due to an unusual tortoiseshell coat color for males. Primary studies revealed the presence of XX sex chromosomes, the lack of SRY and the presence of two copies of the candidate SOX9. The DSD tomcat and its parents were analyzed using whole genome sequencing. Candidate SNPs in AMH, ORC1, DOCK8, PRKAR1A, and TMEM186 genes, as well as a known intronic 5-kb deletion in X-linked ARHGAP36 gene, which is responsible for orange coat, were identified. Potentially pathogenic homozygous genotypes were observed in all candidate genes; however, only in AMH and ORC1 were these genotypes rare in a control cohort. Further studies were focused on two SNPs located in the 5′-and 3′-untranslated regions (UTRs) of AMH. It has been experimentally demonstrated that only a short AMH transcript is present in feline testes. In silico analysis revealed that the SNP located in the 3′UTR of AMH occurs within a sequence that partially matches the canonical binding site for human miR-5571-5p. This microRNA is expressed in mammalian testes, which we confirmed in feline testicular tissue. We concluded that SNP in the 3′UTR of AMH is associated with elevated expression of the encoded hormone; however, it is not the cause of the testicular DSD phenotype in the studied Maine Coon tomcat.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144615352","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 association study discovers new QTL and candidate genes on SSC2 associated with total teat number in Large White × Tongcheng crossbred pigs 全基因组关联研究发现大白与通城杂交猪总产奶量相关的SSC2新QTL和候选基因

IF 1.8 3区生物学

Animal genetics Pub Date : 2025-07-09 DOI: 10.1111/age.70024

Qinghua Yang, Fang Ma, Jiao Yuan, Qiaoli Zhang, Zhiyi Chen, Yang Shen, Xiangge Meng, Songyu Li, Zining Yuan, Ping Zhou, Bang Liu, Xiang Zhou

{"title":"Genome-wide association study discovers new QTL and candidate genes on SSC2 associated with total teat number in Large White × Tongcheng crossbred pigs","authors":"Qinghua Yang, Fang Ma, Jiao Yuan, Qiaoli Zhang, Zhiyi Chen, Yang Shen, Xiangge Meng, Songyu Li, Zining Yuan, Ping Zhou, Bang Liu, Xiang Zhou","doi":"10.1111/age.70024","DOIUrl":"https://doi.org/10.1111/age.70024","url":null,"abstract":"Teat number is an economically important trait in pigs because it is relevant to reproduction efficiency and thus production profitability. In this study, a genome-wide association study (GWAS) was performed with genotyping by genome resequencing, which identified six significant SNPs (single nucleotide polymorphisms) on Sus scrofa chromosome 2 (SSC2) and SSC7 for total teat number using 888 Large White × Tongcheng crossbred pigs. The Bayesian fine-mapping further defined two QTL (quantitative trait loci) with locations of 18.32–19.08 and 21.18–22.11 Mb on SSC2, and one QTL spanned an interval of 97.14–97.91 Mb on SSC7, respectively. The first SSC2 QTL region harbors four candidate genes TTC17, API5, miR-129-2 and HSD17B12. The SSC7 QTL region include two reported candidate genes, VRTN and ABCD4. The average teat numbers are 12.42 ± 1.38, 13.52 ± 1.10 and 13.87 ± 1.03 for TT, TA and AA genotypes of rs340400902 on SSC2, respectively. The T allele of rs340400902 on SSC2 in Large White × Tongcheng crossbred pigs was found to originate from Tongcheng pigs. These findings provides SNPs and candidate genes for the genetic improvement of teat number in pigs.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144589784","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

Identification of key genes for intramuscular fat content in the longissimus dorsi muscles of different pig breeds using RNA sequencing 利用RNA测序技术鉴定不同猪品种背最长肌肌内脂肪含量的关键基因

IF 1.8 3区生物学

Animal genetics Pub Date : 2025-07-09 DOI: 10.1111/age.70023

Qinglong Luo, jing Wang, Jiawen Liu, Yang Li, Shoujun Zhang, Mei Liu

{"title":"Identification of key genes for intramuscular fat content in the longissimus dorsi muscles of different pig breeds using RNA sequencing","authors":"Qinglong Luo, jing Wang, Jiawen Liu, Yang Li, Shoujun Zhang, Mei Liu","doi":"10.1111/age.70023","DOIUrl":"https://doi.org/10.1111/age.70023","url":null,"abstract":"There are significant differences in fat deposition capacity in muscle among different pig breeds, and such differences may be affected by the regulation of gene expression. Comparison of gene expression differences in intramuscular fat (IMF) content in the longissimus dorsi muscle of different pig breeds by RNA sequencing can reveal important genes and pathways related to IMF content and provide theoretical support for meat quality improvement and genetic breeding. In this study, 11 863 expressed genes were identified in six different pig breeds in total, and 2774 differentially expressed genes were identified between high-IMF and low-IMF groups, of which ADAMTS8 was significantly differentially expressed across all six breeds. Based on these data, an enrichment analysis was performed, and the Kyoto Encyclopedia of Genes and Genomes pathways closely related to IMF content were found to be PI3K-Akt signaling pathway, cGMP-PKG signaling pathway, and extracellular matrix–receptor interaction; the PI3K-Akt signaling pathway is especially closely related to muscle development and fat deposition. Analysis of differentially expressed genes in the PI3K-Akt signaling pathway by protein–protein interaction network showed that EGFR, EGF, ITGB3, IGF1, FGF2, and PDGFA are the key genes related to IMF content. These findings can not only contribute to understanding of the genetic regulation of IMF, but also provide scientific basis for future pork quality improvement and breeding strategies.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144589550","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

Comprehensive analysis of the gut microbial diversity and metabolic profiles of brown bears and black bears from the Qinghai-Xizang Plateau 青藏高原棕熊和黑熊肠道微生物多样性及代谢特征的综合分析

IF 1.8 3区生物学

Animal genetics Pub Date : 2025-07-05 DOI: 10.1111/age.70028

Shiyin Zhong, Runjin Wang, Lanting Wei, Jie Zhang, Jing Feng, Zhuoga Zhaxi, Zhongchao Su, Zhimin Zhang, Qiongli Zhou, Jirui Yang, Hui Wang

{"title":"Comprehensive analysis of the gut microbial diversity and metabolic profiles of brown bears and black bears from the Qinghai-Xizang Plateau","authors":"Shiyin Zhong, Runjin Wang, Lanting Wei, Jie Zhang, Jing Feng, Zhuoga Zhaxi, Zhongchao Su, Zhimin Zhang, Qiongli Zhou, Jirui Yang, Hui Wang","doi":"10.1111/age.70028","DOIUrl":"https://doi.org/10.1111/age.70028","url":null,"abstract":"Brown bears (Ursus arctos) and black bears (Ursus thibetanus) are important species on the Qinghai-Xizang Plateau. However, limited studies have been conducted on these species due to sampling constraints. This study, using 16S rRNA amplicon sequencing and untargeted metabolomics, analyzed fecal samples from six wild brown bears and six wild black bears. The results revealed distinct gut microbiota profiles, with brown bears showing higher microbial richness, particularly in Proteobacteria, Bacteroidota, and Actinobacteriota, while black bears were mainly enriched in Firmicutes. Lipid metabolism emerged as the primary metabolic pathway for both species, probably aiding adaptation to the plateau environment. Notably, we found positive correlations between differential metabolites and specific microbiota; in addition, traces of pesticides suggested contamination in the region. Our study provides valuable insights into the gut microbial diversity and metabolomic features of wild brown bears and black bears from the Qinghai-Xizang Plateau, contributing to our understanding of wildlife ecology in this unique environment.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144558322","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

Signatures of selection detected from whole-genome sequencing indicate that the small body size in dwarf rabbit breeds is caused by polygenic effects with a few major loci 从全基因组测序中检测到的选择特征表明，矮兔品种的小体型是由少数主要位点的多基因效应引起的

IF 1.8 3区生物学

Animal genetics Pub Date : 2025-07-03 DOI: 10.1111/age.70025

Samuele Bovo, Miguel Carneiro, Anisa Ribani, Matteo Bolner, Valeria Taurisano, Giuseppina Schiavo, Michele Schiavitto, Francesca Bertolini, Luca Fontanesi

{"title":"Signatures of selection detected from whole-genome sequencing indicate that the small body size in dwarf rabbit breeds is caused by polygenic effects with a few major loci","authors":"Samuele Bovo, Miguel Carneiro, Anisa Ribani, Matteo Bolner, Valeria Taurisano, Giuseppina Schiavo, Michele Schiavitto, Francesca Bertolini, Luca Fontanesi","doi":"10.1111/age.70025","DOIUrl":"https://doi.org/10.1111/age.70025","url":null,"abstract":"Early genetic studies have suggested that body size in rabbits can be considered a quantitative trait. Several rabbit breeds can be distinguished based on body size, including a few dwarf breeds differentiated by other morphological characteristics. While a large deletion in the HMGA2 gene is a major locus associated with dwarfism in Netherland Dwarf rabbits, it may not fully explain the reduced body size in this breed or other dwarf breeds. In this study, we compared the genomes of two dwarf rabbit breeds (Dwarf Lop and Netherland Dwarf) with those of non-dwarf rabbits by analysing whole-genome sequencing data obtained using a DNA-pool sequencing approach. We applied the fixation index (FST) and pooled heterozygosity (HP) statistics to identify signatures of selection related to small body size by contrasting dwarf with non-dwarf breeds and comparing dwarf breeds. We identified several genomic regions that contain genes previously linked to body dimensions in various species, including LCORL-NCAPG, COL2A1, GHRHR and CENPE. Functional enrichment analysis of genes within the top differentiated regions revealed biological terms related to skeletal development, further supporting the biological relevance of these loci. Additionally, the use of the latest version of the reference rabbit genome enabled the identification of a genomic region containing FGFR3, a gene linked to achondroplasia. Some genomic regions showed differentiation between the two dwarf breeds, suggesting that their small body size may, in part, arise through different genetic mechanisms. Overall, these findings support a polygenic architecture underlying small size in rabbits, influenced by a few major loci.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.70025","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144536974","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

Haplotype structure and heterozygosity around the fragile foal syndrome variant in Swedish Warmblod horses 瑞典温血马脆弱小马驹综合征变异的单倍型结构和杂合性

IF 1.8 3区生物学

Animal genetics Pub Date : 2025-06-16 DOI: 10.1111/age.70022

Michela Ablondi, Susanne Eriksson, Sofia Mikko

{"title":"Haplotype structure and heterozygosity around the fragile foal syndrome variant in Swedish Warmblod horses","authors":"Michela Ablondi, Susanne Eriksson, Sofia Mikko","doi":"10.1111/age.70022","DOIUrl":"https://doi.org/10.1111/age.70022","url":null,"abstract":"Fragile foal syndrome (FFS) is a disease caused by a recessive lethal missense mutation in the PLOD1 gene located on ECA2. Despite its harmful effect, a relatively high frequency of FFS carriers was observed in Warmblood breeds spanning from 7.4% in a random sample of Swedish Warmblood breed to 17% in the Hanoverian and Danish Warmblood, indicating potential heterozygous advantage. Balancing selection can be further studied based on haplotype blocks and via detection of heterozygosity-rich region (ROHet) around the target of selection. In this study we evaluated the presence of haplotype blocks and ROHet on ECA2 in 380 Swedish Warmblood horses. We compared the results of ROHet with the rest of the genome. On average, 11.7 heterozygosity rich regions were identified per horse on ECA2, with no significant difference in numbers and length compared to what was found in other chromosomes. A unique haplotype block containing 28 markers was found in the FFS haplotype, while there were several haplotype blocks in the non-carrier haplotype. This unique haplotype block mostly spanned the region upstream of the PLOD1 gene and included the MFN2 gene. The presence of this extended haplotype, shared by multiple individuals and including both the FFS variant and the MFN2 gene, suggests that this region may be under selection. While we did not find a clear heterozygosity-rich region around the FFS variant, the extended haplotype may reflect either a signature of balancing selection or linkage disequilibrium with a positively selected variant in MFN2, PLOD1, or nearby loci.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.70022","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144299881","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 novel feedlot profitability-related traits in Nelore cattle Nelore牛新型饲养场盈利相关性状的全基因组关联研究

IF 1.8 3区生物学

Animal genetics Pub Date : 2025-06-15 DOI: 10.1111/age.70018

Letícia Silva Pereira, Fernando Baldi, Guilherme Rosa, Nedenia Bonvino Stafuzza, Tiago Zanett Albertini, Minos Esperândio Carvalho, Raysildo Barbosa Lobo, Elisa Peripolli, Eduardo da Costa Eifert, Cláudio Ulhôa Magnabosco

{"title":"Genome-wide association study of novel feedlot profitability-related traits in Nelore cattle","authors":"Letícia Silva Pereira, Fernando Baldi, Guilherme Rosa, Nedenia Bonvino Stafuzza, Tiago Zanett Albertini, Minos Esperândio Carvalho, Raysildo Barbosa Lobo, Elisa Peripolli, Eduardo da Costa Eifert, Cláudio Ulhôa Magnabosco","doi":"10.1111/age.70018","DOIUrl":"https://doi.org/10.1111/age.70018","url":null,"abstract":"This study aimed to conduct a genome-wide association study to identify genomic regions associated with profitability traits in Nelore beef cattle. The dataset included 3614 phenotypic records of accumulated feedlot profitability (AFP) and profit per 15 kg of liveweight gain (PFT) from animals born between 2020 and 2022, participating in the Nelore Brazilian breeding program from the National Association of Breeders and Researchers. From this total, 2127 animals were genotyped with the Clarifide® Nelore 3.0 SNP panel. After quality control, 2127 genotyped animals and 35 658 SNPs remained in the dataset for analysis. The weighted single-step approach for genome-wide association methodology was used to identify genomic regions associated with AFP and PFT. A single-trait animal model was applied to predict genetic values, and SNP effect solutions were obtained from these values. Genomic windows of 10-SNP sliding windows that explained >0.5% of the additive genetic variance of each trait were selected to investigate potential candidate genes. A total of 83 genes within 21 windows and 268 genes within 52 windows associated with the AFP and PFT were identified, respectively. Several genes related to fertility, feed efficiency, carcass traits, muscle and adipose tissue development and metabolism, and lipid and carbohydrate metabolism were identified, along with genes associated with animal behavior. The results revealed that identifying genomic regions and their respective candidate genes contributes substantially to a better understanding of the genetic mechanisms regarding these novel profitability-related phenotypes in Nelore beef cattle.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289291","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

A VWF missense variant in Havanese dogs with type 3 von Willebrand disease 患有3型血管性血友病的哈瓦那犬的VWF错义变异

IF 1.8 3区生物学

Animal genetics Pub Date : 2025-06-12 DOI: 10.1111/age.70021

Arly-Camila Armas-Jimenez, Alina Randolph, Leigh Anne Clark, Jacquelyn M. Evans, Marjory B. Brooks, Robert Goggs

{"title":"A VWF missense variant in Havanese dogs with type 3 von Willebrand disease","authors":"Arly-Camila Armas-Jimenez, Alina Randolph, Leigh Anne Clark, Jacquelyn M. Evans, Marjory B. Brooks, Robert Goggs","doi":"10.1111/age.70021","DOIUrl":"https://doi.org/10.1111/age.70021","url":null,"abstract":"Quantitative and functional defects of von Willebrand Factor (VWF) cause the hereditary bleeding disorder von Willebrand disease (VWD). Three types of VWD exist; type 3 is the most severe and rare, characterized by an almost complete absence of VWF protein. In this study, we investigated the cause of type 3 VWD in a family of purebred Havanese dogs. Pedigree analysis suggested an autosomal recessive mode of inheritance. We performed whole genome sequencing of the parents and relatives of two affected siblings, revealing a novel missense variant in the VWF gene. The variant causes a cysteine to glycine substitution at residue 2571 (NP_001002932.1:p.(Cys2571Gly)) within the VWF C4 domain. This residue is highly conserved across vertebrates and plays a critical role in maintaining the structural integrity of VWF through disulfide bonds. This change probably disrupts the conformation of the C4 domain, leading to VWF concentrations undetectable by enzyme-linked immunosorbent assay in affected dogs. Genotyping confirmed an autosomal recessive mode of inheritance, and the variant was found exclusively within the family. Our findings provide new insights into the genetic basis of VWD and highlight the importance of conserved cysteine residues for VWF stability.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144264360","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

Dominant blue eyes in Maine Coon cats: New PAX3 variant and updated phenotypic data 缅因猫的显性蓝眼睛：新的PAX3变异和更新的表型数据

IF 1.8 3区生物学

Animal genetics Pub Date : 2025-06-03 DOI: 10.1111/age.70020

Marie Abitbol, Ana Cloquell, Adriana Kaczmarska, Karen Holmes, Gesine Lühken, Kristina Macaulay

{"title":"Dominant blue eyes in Maine Coon cats: New PAX3 variant and updated phenotypic data","authors":"Marie Abitbol, Ana Cloquell, Adriana Kaczmarska, Karen Holmes, Gesine Lühken, Kristina Macaulay","doi":"10.1111/age.70020","DOIUrl":"https://doi.org/10.1111/age.70020","url":null,"abstract":"Feline minimal white spotting associated with blue eyes, a trait called DBE by breeders for dominant blue eyes, was selected recently to create various lineages of cats and the Celestial breed. Previously, we identified three Paired Box 3 (PAX3) gene variants that account for some of the DBE phenotypes in cats, confirming different founding effects. Using a candidate gene approach, we identified a fourth PAX3 variant in a purebred Maine Coon lineage segregating for DBE and lacking a previously identified genomic variant. Segregation of the variant was consistent with the dominant inheritance pattern observed in this DBE lineage called the “Agostino line” by breeders. This PAX3:c.160del frameshift variant, located in PAX3 exon 2, was predicted to produce a truncated PAX3 protein: PAX3:p.(His54ThrTer108) that would lack 78% of the amino acids of the wildtype protein. All 13 DBE Maine Coon cats from the line were heterozygous for the variant, that was absent in all non-DBE Maine Coon cats from the line and in all control cat genomes (n > 300). We propose that this PAX3:c.160del variant represents the DBEAGO (Agostino Dominant Blue Eyes) allele in the domestic cat. In addition, we improved the phenotypic description of DBE in Maine Coon cats, highlighting the need to reassess the prevalence of deafness and revealing the existence of latent cats in the previously described DBERE (Rociri Elvis Dominant Blue Eyes) Maine Coon lineage.","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"56 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.70020","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144197498","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