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A preliminary genome-wide association study of paroxysmal dyskinesia in the Norwich Terrier 诺威奇梗阵发性运动障碍的初步全基因组关联研究。
IF 1.8 3区 生物学
Animal genetics Pub Date : 2024-10-12 DOI: 10.1111/age.13479
Christopher A. Jenkins, Luisa De Risio, Elisabeth Dietschi, Tosso Leeb, Ulrich Rytz, Peter Schawalder, Jeffrey J. Schoenebeck, Cathryn S. Mellersh, Sally L. Ricketts
{"title":"A preliminary genome-wide association study of paroxysmal dyskinesia in the Norwich Terrier","authors":"Christopher A. Jenkins, Luisa De Risio, Elisabeth Dietschi, Tosso Leeb, Ulrich Rytz, Peter Schawalder, Jeffrey J. Schoenebeck, Cathryn S. Mellersh, Sally L. Ricketts","doi":"10.1111/age.13479","DOIUrl":"10.1111/age.13479","url":null,"abstract":"<p>Paroxysmal dyskinesias (PxDs) are typified by recurring episodes of involuntary abnormal movement without loss of consciousness (Bhatia, <span>2011</span>; Cerda-Gonzalez et al., <span>2021</span>). PxD is phenotypically heterogeneous in dogs, but characteristics are often shared between breeds and with human PxD (Cerda-Gonzalez et al., <span>2021</span>; Lowrie & Garosi, <span>2017</span>). A pedigree analysis of a group of Norwich Terriers in a previous study of PxD in the UK showed clustering of cases and suggested an inherited component, although mode of inheritance could not be ascertained (De Risio et al., <span>2016</span>). A PxD prevalence of 13% (95% confidence interval 9–18%) was estimated in this study, although as it was questionnaire-based it was likely to have had a bias towards affected dogs.</p><p>We conducted a preliminary genome-wide association study (GWAS) aiming to identify PxD-associated loci in Norwich Terriers and help to assess the mode of inheritance of the disorder. GWAS individuals were 24 Norwich Terrier PxD cases and 24 PxD-unaffected Norwich Terriers aged over 6 years (Appendix S1).</p><p>Genotype data were generated for the 48 dogs using the Axiom Canine HD array. All individuals had a genotype call rate >90%. Population-corrected association analysis (using a linear mixed model) was carried out on the autosomes using GEMMA (Zhou & Stephens, <span>2012</span>), including only the 230 972 variants with call rate >97%, minor allele frequency >0.05, and Hardy–Weinberg equilibrium <i>p</i>-value >5 × 10<sup>−5</sup>. No loci reached genome-wide statistical association (<i>p</i> ≤ 2 × 10<sup>−7</sup>; Figure 1). As this was a small preliminary study lacking statistical power to detect associations for a non-Mendelian disease, we investigated if the associations of any of the top tier of SNPs were augmented by adding data from an independent Norwich Terrier SNP genotype dataset (Illumina canineHD array) (Marchant et al., <span>2019</span>). PxD case–control status was defined for a subset of these dogs and the dataset was imputed to obtain genotypes for Axiom array SNPs (Appendix S1). To determine if population stratification was present within the GWAS sample set, or between the GWAS set and the upper airway syndrome set, two-dimensional multidimensional scaling plots based on a matrix of pairwise identity-by-state distances were generated. This did not indicate material population stratification (Figure S1).</p><p>The addition of the 10 cases and 45 controls augmented statistical associations that were directionally consistent for two of the eight GWAS SNPs; within the <i>SIK3</i> and <i>FCHSD2</i> genes (Table 1). However, the risk allele for the SNP in <i>FCHSD2</i> was not present in any of the additional cases and controls and was extremely rare (0.007) in the 232 dogs of the upper airway syndrome set. A meta-analysis of the two study sets was subsequently carried out (Appendix S1, Figure S2","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 6","pages":"914-917"},"PeriodicalIF":1.8,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13479","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142456312","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 KIT gene transcript variants in white spotted river buffalo (Bubalus bubalis) 鉴定白斑河水牛(Bubalus bubalis)的 KIT 基因转录本变异。
IF 1.8 3区 生物学
Animal genetics Pub Date : 2024-10-10 DOI: 10.1111/age.13484
Ankita Gurao, Rashi Vasisth, Namita Kumari, Meenakshi Chitkara, Ravinder Singh, Manishi Mukesh, Vikas Vohra, Sanjay Kumar, Mahesh Shivanand Dige, Ranjit Singh Kataria
{"title":"Identification of KIT gene transcript variants in white spotted river buffalo (Bubalus bubalis)","authors":"Ankita Gurao, Rashi Vasisth, Namita Kumari, Meenakshi Chitkara, Ravinder Singh, Manishi Mukesh, Vikas Vohra, Sanjay Kumar, Mahesh Shivanand Dige, Ranjit Singh Kataria","doi":"10.1111/age.13484","DOIUrl":"10.1111/age.13484","url":null,"abstract":"","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 6","pages":"918-920"},"PeriodicalIF":1.8,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142399179","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 missense mutation in the tyrosinase gene explains acromelanism in domesticated canaries 酪氨酸酶基因的错义突变可解释驯化金丝雀的肢端黑化症。
IF 1.8 3区 生物学
Animal genetics Pub Date : 2024-10-08 DOI: 10.1111/age.13481
Margarida Guimarães-Moreira, Cristiana I. Marques, Sandra Afonso, Beatriz Lacerda, Miguel Carneiro, Pedro M. Araújo
{"title":"A missense mutation in the tyrosinase gene explains acromelanism in domesticated canaries","authors":"Margarida Guimarães-Moreira,&nbsp;Cristiana I. Marques,&nbsp;Sandra Afonso,&nbsp;Beatriz Lacerda,&nbsp;Miguel Carneiro,&nbsp;Pedro M. Araújo","doi":"10.1111/age.13481","DOIUrl":"10.1111/age.13481","url":null,"abstract":"<p>Acromelanism is a form of albinism observed in several vertebrate species. In mammals, acromelanism is known to be caused by mutations in the tyrosinase gene (<i>TYR</i>) that induce a temperature-sensitive behavior of melanin synthesis, resulting in a characteristic hair color gradient. In birds, several phenotypes consistent with acromelanism have been reported, but their genetic basis remains unknown. This study aimed to identify the genetic basis of an acromelanistic phenotype in domesticated canaries known as <i>pearl</i> and test whether it is caused by the same molecular mechanism described for mammals. To do this, we compared the genomes of <i>pearl</i> and non-<i>pearl</i> canaries and searched for potentially causative genetic mutations. Our results suggest that the <i>pearl</i> phenotype is caused by a mutation in the <i>TYR</i> gene encoding a TYR-P45H missense substitution. Our findings further suggest that reports of acromelanism in other bird species might be explained by <i>TYR</i> mutations.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 6","pages":"838-842"},"PeriodicalIF":1.8,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387395","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 RETREG1 variant is associated with hereditary sensory and autonomic neuropathy with acral self-mutilation in purebred German Spitz RETREG1变体与纯种德国斯皮茨犬的遗传性感觉和自主神经病变以及尖锐湿疣自残有关。
IF 1.8 3区 生物学
Animal genetics Pub Date : 2024-10-08 DOI: 10.1111/age.13482
Anna Letko, Pascale Quignon, Maéva Quilleré, Jean-Charles Husson, Caroline Dufaure de Citres, Jonas Donner, Stéphane Dréano, Jocelyn Plassais, Catherine André
{"title":"A RETREG1 variant is associated with hereditary sensory and autonomic neuropathy with acral self-mutilation in purebred German Spitz","authors":"Anna Letko,&nbsp;Pascale Quignon,&nbsp;Maéva Quilleré,&nbsp;Jean-Charles Husson,&nbsp;Caroline Dufaure de Citres,&nbsp;Jonas Donner,&nbsp;Stéphane Dréano,&nbsp;Jocelyn Plassais,&nbsp;Catherine André","doi":"10.1111/age.13482","DOIUrl":"10.1111/age.13482","url":null,"abstract":"<p>Hereditary sensory and autonomic neuropathies (HSAN) represent a group of genetic diseases affecting the peripheral nervous system. In humans, at least 16 loci have been associated with the disorder but do not explain the disease origin of all patients. In dogs, similar conditions have been documented for decades in various breeds with a severe impact on life quality and are often referred to as acral mutilation syndrome (AMS). Causal variants in three genes have been identified to date, suggesting larger genetic heterogeneity in the dog population. Our aim was to explain the genetic etiology of an early-onset HSAN/AMS in a purebred German Spitz. The affected dog showed progressive loss of pain sensation in the distal extremities, which led to intense licking, biting, and self-mutilation of digits and paw pads. Whole-genome sequencing identified a single candidate causal variant on chromosome 4 in the <i>RETREG1</i> gene (c.656C&gt;T, p.Pro219Leu). This missense variant was previously recognized as deleterious in a mixed breed dog family with similar clinical signs. Haplotype analyses and targeted genotyping revealed a likely German Spitz ancestry of these mixed breed dogs. Further screening of an extensive cohort of ~900 000 dogs of various breeds hinted at the variant allele origin in the German Spitz breed. Disruption of RETREG1 inhibits endoplasmic reticulum turnover and leads to neuron degeneration. Our findings provide evidence that this variant underlies the recessive form of HSAN/AMS in the German Spitz and support the use of whole-genome sequencing-based veterinary precision medicine for early diagnosis and prevention via a genetic test.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 6","pages":"810-819"},"PeriodicalIF":1.8,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13482","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387396","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 analysis identifies candidate genes for carcass yields in Peking ducks 全基因组关联分析确定了北京鸭胴体产量的候选基因。
IF 1.8 3区 生物学
Animal genetics Pub Date : 2024-10-08 DOI: 10.1111/age.13480
Jiang-Zhou Yu, Jun Zhou, Fang-Xi Yang, Jin-Ping Hao, Zhuo-Cheng Hou, Feng Zhu
{"title":"Genome-wide association analysis identifies candidate genes for carcass yields in Peking ducks","authors":"Jiang-Zhou Yu,&nbsp;Jun Zhou,&nbsp;Fang-Xi Yang,&nbsp;Jin-Ping Hao,&nbsp;Zhuo-Cheng Hou,&nbsp;Feng Zhu","doi":"10.1111/age.13480","DOIUrl":"10.1111/age.13480","url":null,"abstract":"<p>Poultry meat, particularly Peking ducks, holds a significant global market share, prized for their high meat yield and fat content. However, understanding of the molecular genetic mechanisms influencing carcass yield in ducks is limited. This research aims to use genome-wide association analysis to uncover single-nucleotide polymorphisms influencing carcass yield in Peking ducks, followed by identifying candidate genes linked to carcass traits. In this study, we analyzed seven traits of 643 Peking ducks at age 42 days and identified novel loci associated with these traits. A total of 35 significant loci were detected, with eight SNPs reaching genome-wide significance. <i>KIF20B</i>, <i>AGBL5</i>, <i>SGSM1</i>, <i>MRO, PLAG1</i>, <i>XKR4</i>, and <i>TGS1</i> were considered as important candidate genes influencing carcass yield in ducks. This study adds to the list of genes affecting Peking duck body traits, aiding marker-assisted breeding and enhancing economic yield.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 6","pages":"833-837"},"PeriodicalIF":1.8,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387398","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
Allele frequencies of PRLR truncating variants in heat-tolerant taurine cattle native to Latin America 拉丁美洲耐热牛体内 PRLR 截短变体的等位基因频率。
IF 1.8 3区 生物学
Animal genetics Pub Date : 2024-10-08 DOI: 10.1111/age.13478
Julio M. Flórez Murillo, Raziye Işık Kalpar, Stephany de Souza Albuquerque, Fabiano Silberschmidt Maia, Antonio J. Landaeta-Hernández, Ândrea Renata da Silva Romero, Rafael Torrijos Rivera, Rebeca Y. Veiga Aquino, Germán Martínez Correal, Maurício Borges, Celso Ribeiro Angelo de Menezes, Sabreena A. Larson, Ana M. Pérez O'Brien, José Fernando Garcia, Tad S. Sonstegard
{"title":"Allele frequencies of PRLR truncating variants in heat-tolerant taurine cattle native to Latin America","authors":"Julio M. Flórez Murillo,&nbsp;Raziye Işık Kalpar,&nbsp;Stephany de Souza Albuquerque,&nbsp;Fabiano Silberschmidt Maia,&nbsp;Antonio J. Landaeta-Hernández,&nbsp;Ândrea Renata da Silva Romero,&nbsp;Rafael Torrijos Rivera,&nbsp;Rebeca Y. Veiga Aquino,&nbsp;Germán Martínez Correal,&nbsp;Maurício Borges,&nbsp;Celso Ribeiro Angelo de Menezes,&nbsp;Sabreena A. Larson,&nbsp;Ana M. Pérez O'Brien,&nbsp;José Fernando Garcia,&nbsp;Tad S. Sonstegard","doi":"10.1111/age.13478","DOIUrl":"10.1111/age.13478","url":null,"abstract":"","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 6","pages":"910-913"},"PeriodicalIF":1.8,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387397","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
Genotype-by-environment interactions in beef and dairy cattle populations: A review of methodologies and perspectives on research and applications 肉牛和奶牛群体中基因型与环境的相互作用:研究和应用方法与观点综述。
IF 1.8 3区 生物学
Animal genetics Pub Date : 2024-10-08 DOI: 10.1111/age.13483
João B. Silva Neto, Lucio F. M. Mota, Marisol Londoño-Gil, Patrícia I. Schmidt, Gustavo R. D. Rodrigues, Viviane A. Ligori, Leonardo M. Arikawa, Claudio U. Magnabosco, Luiz F. Brito, Fernando Baldi
{"title":"Genotype-by-environment interactions in beef and dairy cattle populations: A review of methodologies and perspectives on research and applications","authors":"João B. Silva Neto,&nbsp;Lucio F. M. Mota,&nbsp;Marisol Londoño-Gil,&nbsp;Patrícia I. Schmidt,&nbsp;Gustavo R. D. Rodrigues,&nbsp;Viviane A. Ligori,&nbsp;Leonardo M. Arikawa,&nbsp;Claudio U. Magnabosco,&nbsp;Luiz F. Brito,&nbsp;Fernando Baldi","doi":"10.1111/age.13483","DOIUrl":"10.1111/age.13483","url":null,"abstract":"<p>Modern livestock production systems are characterized by a greater focus on intensification, involving managing larger numbers of animals to achieve higher productive efficiency and animal health and welfare within herds. Therefore, animal breeding programs need to be strategically designed to select animals that can effectively enhance production performance and animal welfare across a range of environmental conditions. Thus, this review summarizes the main methodologies used for assessing the levels of genotype-by-environment interaction (G × E) in cattle populations. In addition, we explored the importance of integrating genomic and phenotypic information to quantify and account for G × E in breeding programs. An overview of the structure of cattle breeding programs is provided to give insights into the potential outcomes and challenges faced when considering G × E to optimize genetic gains in breeding programs. The role of nutrigenomics and its impact on gene expression related to metabolism in cattle are also discussed, along with an examination of current research findings and their potential implications for future research and practical applications. Out of the 116 studies examined, 60 and 56 focused on beef and dairy cattle, respectively. A total of 83.62% of these studies reported genetic correlations across environmental gradients below 0.80, indicating the presence of G × E. For beef cattle, 69.33%, 24%, 2.67%, 2.67%, and 1.33% of the studies evaluated growth, reproduction, carcass and meat quality, survival, and feed efficiency traits, respectively. By contrast, G × E research in dairy cattle populations predominantly focused on milk yield and milk composition (79.36% of the studies), followed by reproduction and fertility (19.05%), and survival (1.59%) traits. The importance of G × E becomes particularly evident when considering complex traits such as heat tolerance, disease resistance, reproductive performance, and feed efficiency, as highlighted in this review. Genomic models provide a valuable avenue for studying these traits in greater depth, allowing for the identification of candidate genes and metabolic pathways associated with animal fitness, adaptation, and environmental efficiency. Nutrigenetics and nutrigenomics are emerging fields that require extensive investigation to maximize our understanding of gene–nutrient interactions. By studying various transcription factors, we can potentially improve animal metabolism, improving performance, health, and quality of products such as meat and milk.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 6","pages":"871-892"},"PeriodicalIF":1.8,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13483","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387399","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 re-sequencing reveals regulatory genes and variants involved in the regulation of intermittent fertilization intensity in Wenchang chickens 全基因组重测序揭示了参与调控文昌鸡间歇受精强度的调控基因和变异。
IF 1.8 3区 生物学
Animal genetics Pub Date : 2024-09-29 DOI: 10.1111/age.13471
Xiuping Wang, Lei Wang, Xing Hong, Mingze Li, Xianyuan Gu, Minhui Liu, ShiJun Li
{"title":"Genome-wide re-sequencing reveals regulatory genes and variants involved in the regulation of intermittent fertilization intensity in Wenchang chickens","authors":"Xiuping Wang,&nbsp;Lei Wang,&nbsp;Xing Hong,&nbsp;Mingze Li,&nbsp;Xianyuan Gu,&nbsp;Minhui Liu,&nbsp;ShiJun Li","doi":"10.1111/age.13471","DOIUrl":"10.1111/age.13471","url":null,"abstract":"<p>Intermittent fertilization intensity (IFI) is closely related to higher fertilization in chickens, but the genetic basis of IFI is not clearly understood. Here, we sampled a total of 939 Wenchang chickens with IFI. The IFI traits had negative correlation with the fertilization rate and exhibited huge phenotypic variations among individuals of the same strain. Based on SNPs derived from a subset of 499 whole genome data, a genome-wide association study with mixed linear model and further linkage disequilibrium analysis were performed to test potential associations between IFI traits and genomic variants. We identified 35 SNP variants and a 19.82 kb linkage disequilibrium block on chr8 significantly associated with IFI. This block is in the intron of LOC101750715, which shows significant homology with the human LMO4. Therefore, LOC101750715 and LMO4 may regulate IFI. The oviduct's immune regulation is crucial for fertilization. LMO4, activated by IL-6 and IL-23, promotes inflammation in epithelial cells. Thus, LOC101750715 and LMO4 may affect fertilization by regulating oviductal inflammation, impacting IFI. Our findings will provide targets for molecular-marker selection and genetic manipulation for lines of chickens with lower IFI.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 6","pages":"828-832"},"PeriodicalIF":1.8,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339547","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 a functional single nucleotide polymorphism in the FASN promoter associated with milk fat traits in dairy cattle 鉴定与奶牛乳脂性状相关的 FASN 启动子中的功能性单核苷酸多态性。
IF 1.8 3区 生物学
Animal genetics Pub Date : 2024-09-29 DOI: 10.1111/age.13477
Mélissa Poncet, Maureen Féménia, Mathieu Charles, Maxime Ben Braiek, Lorraine Bourgeois-Brunel, Hiroaki Taniguchi, Nathalie Duprat, Arnaud Boulling, Véronique Blanquet, Dominique Rocha
{"title":"Identification of a functional single nucleotide polymorphism in the FASN promoter associated with milk fat traits in dairy cattle","authors":"Mélissa Poncet,&nbsp;Maureen Féménia,&nbsp;Mathieu Charles,&nbsp;Maxime Ben Braiek,&nbsp;Lorraine Bourgeois-Brunel,&nbsp;Hiroaki Taniguchi,&nbsp;Nathalie Duprat,&nbsp;Arnaud Boulling,&nbsp;Véronique Blanquet,&nbsp;Dominique Rocha","doi":"10.1111/age.13477","DOIUrl":"10.1111/age.13477","url":null,"abstract":"&lt;p&gt;In the past decades, multiple genome-wide association studies have been performed to identify loci affecting milk production traits, including some using imputed whole-genome sequence data (i.e. Daetwyler et al., &lt;span&gt;2014&lt;/span&gt;; Fang &amp; Pausch, &lt;span&gt;2019&lt;/span&gt;; Sanchez et al., &lt;span&gt;2017&lt;/span&gt;). Several genome-wide association studies have linked a polymorphism (rs136067046, BTA19: g.50775172 C&gt;G on ARS-UCD1.2) located in the upstream region of &lt;i&gt;FASN&lt;/i&gt; (encoding fatty acid synthase) to milk fat traits in dairy cattle (Cai et al., &lt;span&gt;2020&lt;/span&gt;; Sanchez et al., &lt;span&gt;2019&lt;/span&gt;; Tribout et al., &lt;span&gt;2020&lt;/span&gt;). For example, Cai and collaborators showed that rs136067046 is associated to milk fat traits in Nordic Holstein cows. FASN is an enzyme that plays a critical role in de novo fatty acid synthesis in milk. Interestingly, rs136067046 is located within an ATAC peak (chr.19: 50 773 523–50 795 886) found in the mammary gland (Yuan et al., &lt;span&gt;2023&lt;/span&gt;). It is thus possible that rs136067046 is a functional variant that directly impacts these traits.&lt;/p&gt;&lt;p&gt;The ability of this SNP to alter transcription factor binding sites was then predicted with a custom script, as previously described (Ramírez-Ayala et al., &lt;span&gt;2021&lt;/span&gt;). This analysis suggests that rs136067046 modifies the binding sites of nine transcription factors (Table 1). Five of those transcription factors are expressed (transcript per million reads ≥0.5) in mammary gland tissue (Fang et al., &lt;span&gt;2020&lt;/span&gt;). Interestingly, three of those five transcription factors are from the Krüppel-like factor (KLF) family, a conserved class of transcription factors. It has been shown that KLF4 promotes milk fat synthesis in bovine mammary epithelial cells by targeting the &lt;i&gt;FASN&lt;/i&gt; promoter region (Wu et al., &lt;span&gt;2024&lt;/span&gt;). The authors have shown, using yeast one-hybrid assay, that KLF4 interacts directly with a part of the &lt;i&gt;FASN&lt;/i&gt; promoter region, encompassing the location of rs136067046. It has also been shown that KLF5 controls the expression of &lt;i&gt;FASN&lt;/i&gt; through an interaction with SREBBP-1 (Lee et al., &lt;span&gt;2009&lt;/span&gt;). In addition, inactivation of &lt;i&gt;KLF6&lt;/i&gt; in bovine mammary epithelial cells increases &lt;i&gt;FASN&lt;/i&gt; expression (Iqbal et al., &lt;span&gt;2022&lt;/span&gt;). These studies point to the important role played by these KLF transcription factors in the regulation of &lt;i&gt;FASN&lt;/i&gt;. All these findings suggest that, consequently, rs136067046 is potentially a regulatory variant that might alter the expression of &lt;i&gt;FASN&lt;/i&gt;.&lt;/p&gt;&lt;p&gt;To investigate the potential regulatory function of the rs136067046 variant, we constructed and then functionally tested two allele-specific recombinant promoter vectors using the dual-luciferase reporter system and the bovine mammary epithelial MAC-T cell line (Huynh et al., &lt;span&gt;1991&lt;/span&gt;). Details on the plasmid constructions and luciferase assays are provided in Supplementary Material S1. The construct with the G alle","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 6","pages":"907-909"},"PeriodicalIF":1.8,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13477","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339548","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 G protein-coupled receptors and their ligands in animal domestication G 蛋白偶联受体及其配体在动物驯化中的作用。
IF 1.8 3区 生物学
Animal genetics Pub Date : 2024-09-26 DOI: 10.1111/age.13476
Gunnar Kleinau, Bice Chini, Leif Andersson, Patrick Scheerer
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