Article
Agriculture, Dairy & Animal Science
Jillian Maniego, Orla Giles, Pamela Hincks, Graham Stewart, Christopher Proudman, Edward Ryder
Summary: We used long-read sequencing to target the MSTN gene in Thoroughbred horses and successfully detected potential gene editing events. By sequencing the complete gene in one PCR product, we were able to catalog all mutations without the need for short-fragment libraries. We also sequenced the MSTN gene in a population of 119 UK Thoroughbred horses to determine normal variation and found that Hap2 and Hap3 were the most prevalent haplotypes, with Hap3 being most abundant in flat-racing horses and Hap2 being most abundant in jump-racing.
Article
Agriculture, Dairy & Animal Science
Emanuela Pira, Giuseppe Massimo Vacca, Maria Luisa Dettori, Gianpiera Piras, Massimiliano Moro, Pietro Paschino, Michele Pazzola
Summary: Myostatin is an important protein involved in cell regulation and differentiation. Studies on the encoding gene MSTN and its mutations in cattle and horses have shown associations with increased muscle mass and favorable effects on sport performance. The present study on Anglo-Arabian horses revealed a relatively high variability at MSTN and the influence of certain polymorphic sites on race performances. The analysis of two SNPs, rs69472472 and rs397152648, showed significant influence on sport traits, with heterozygous horses displaying better results. This information can contribute to better understanding the genetic profile of Anglo-Arabian horses and potentially improve selection for sport performance.
Article
Biotechnology & Applied Microbiology
Agata Leonska-Duniec, Malgorzata Borczyk, Michal Korostynski, Myosotis Massidda, Ewelina Maculewicz, Pawel Cieszczyk
Summary: This study investigated the association between genetic variations in the MSTN, ACVR2A, and ACVR2B genes and athletic performance and competition level in the Polish population. The findings suggest that specific genotypes of these genes are significantly associated with athletes' competition level, particularly in the mixed-sports athlete group.
Article
Agriculture, Dairy & Animal Science
Aurelie Vinet, Claire Bouyer, Lionel Forestier, Ahmad Oulmouden, Veronique Blanquet, Brigitte Picard, Isabelle Cassar-Malek, Muriel Bonnet, Dominique Rocha, Gilles Renand
Summary: The TG3811 mutation in the myostatin gene of the Blonde d'Aquitaine breed significantly affects muscular development, with positive effects on carcass yield and muscularity scores, and negative effects on birth weight, carcass length, and fatness. The characteristics of the Triceps brachii muscle were also affected by the mutation, showing lower ICDH activity and a higher proportion of myosin type 2X muscle fibers.
JOURNAL OF ANIMAL SCIENCE
(2021)
Article
Geriatrics & Gerontology
Kazuhiro Maeta, Manal Farea, Hisahide Nishio, Masafumi Matsuo
Summary: A novel splice variant of the human MSTN gene, myostatin-b, was identified in this study. Myostatin-b can inhibit myostatin signaling in a specific manner and enhance myoblast proliferation by regulating the cell cycle. This discovery suggests that myostatin-b could be developed as a natural myostatin inhibitor.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Article
Agriculture, Dairy & Animal Science
Alexandra Novotna, Alena Birovas, Hana Vostra-Vydrova, Zdenka Vesela, Lubos Vostry
Summary: The genetic evaluation of Czech sport horses has been based on jumping competition results since 2014. The study found that incorporating performance test results into genetic evaluation can refine breeding values, especially for young mares and stallions.
Article
Veterinary Sciences
Giada Scantamburlo, Charity Nofziger, Markus Paulmichl, Simone Vanoni
Summary: This study aimed to elucidate the pharmacogenetic analysis of the CYP2D family in horses and resulted in the identification of a novel gene structure for CYP2D50, the expression of six different members of the CYP2D family in horse liver, and several novel polymorphisms for CYP2D50 and CYP2D82.
FRONTIERS IN VETERINARY SCIENCE
(2023)
Article
Veterinary Sciences
Celia M. Marr, Samantha Franklin, Georgie Garrod, Claire Wylie, Lewis Smith, Jo Dukes-McEwan, Jan Bright, Kate Allen
Summary: This study found a high prevalence of cardiac rhythm disturbances, including complex ectopic/re-entrant rhythms, in poorly performing racehorses. Detection of rhythm disturbances may vary with exercise test conditions, and exercise-associated upper respiratory tract obstructions increase the risk of rhythm disturbances.
EQUINE VETERINARY JOURNAL
(2021)
Article
Agriculture, Dairy & Animal Science
Charlotte Schrurs, Sarah Blott, Guillaume Dubois, Emmanuelle Van Erck-Westergren, David S. S. Gardner
Summary: Using a stride tracking device, this study objectively measures and compares the stride lengths of racehorses categorized as sprinters or stayers. The results show that there are significant differences in stride length between these two categories, even before they compete in races. The study also finds that stride length during training cannot predict racing success, but stayers tend to have better race results than sprinters. This objective data on stride characteristics can be helpful for trainers in selecting appropriate races for each racehorse.
Review
Agriculture, Dairy & Animal Science
Silvina Diaz, Hernan Olivera, Marielle Moura Baena, Felipe Amorim Caetano Souza, Yasmim Pereira Ribeiro, Raquel Silva de Moura, Sarah Laguna Conceicao Meirelles
Summary: This study conducted genetic characterization of the Brazilian horse breed Mangalarga Marchador (MM) and found that it had genetic diversity, linkage disequilibrium, and possible signs of admixture. Brazilian horse breeds showed distinct population structure compared to other breeds. Implementing a breeding program to increase the variability and define the genetic entity of MM is necessary.
Article
Reproductive Biology
Ana Rita Goncalves, Luis Telo da Gama, Luis Antunes, Helena Guimaraes, Miguel Bliebernicht, Cristina Cosinha, Bruno Duarte Rego, Pedro Ferro da Costa, Tiago Guimaraes, Elisa Bettencourt, Antonio Rocha, Jose Carlos Duare
Summary: The study aimed to establish baseline information for seminal traits in Lusitano stallions, assess the impact of inbreeding, collection interval, and age on semen quality, and estimate the genetic parameters. A total of 2129 ejaculates by 146 Lusitano stallions were analyzed. Results showed normal values for seminal traits and a decline in quality as inbreeding increased. Season and age also influenced semen quality, with the highest values observed during the breeding season and a nonlinear relationship with age. Genetic parameters suggested the possibility of improving semen quality through selection and the importance of considering inbreeding when selecting Lusitano stallions.
Article
Genetics & Heredity
Valentina Gineviciene, Audrone Jakaitiene, Erinija Pranckeviciene, Kazys Milasius, Algirdas Utkus
Summary: This study discovered that genetic variants of the MSTN gene associated with endurance performance are more common among Lithuanian elite athletes, indicating a higher likelihood of the presence of MSTN deletion genotype in athletes focused on endurance performance.
Article
Agriculture, Dairy & Animal Science
Alicja Borowska, Daria Wolska, Artur Niedzwiedz, Hieronim Borowicz, Zbigniew Jaworski, Marta Siemieniuch, Tomasz Szwaczkowski
Summary: Equine Asthma (EA) is an inflammatory disease of the lower airways in horses, with mild-to-moderate and severe types. The disease occurrence is related to sex, breed, and genetic background, indicating serious breeding and economic consequences. Environmental and inbreeding effects on severe equine asthma in Polish Konik horses were studied, showing that maternal inbreeding has a significant impact on the disease.
Article
Agriculture, Dairy & Animal Science
Georgi Yordanov, Nadezhda Palova, Ivan Mehandjyiski, Peter Hristov
Summary: From a historical perspective, horse breeding in Bulgaria has been well developed since ancient times. This study investigated the genetic structure of three closely related horse breeds - the Danubian Nonius Hungarian Nonius and Serbian Nonius horses. The study found that these breeds have different genetic profiles.
ANIMAL BIOTECHNOLOGY
(2023)
Article
Veterinary Sciences
Carmen Marin Navas, Juan Vicente Delgado Bermejo, Amy Katherine McLean, Jose Manuel Leon Jurado, Antonio Rodriguez de la Borbolla y Ruiberriz de Torres, Francisco Javier Navas Gonzalez
Summary: Genetic diversity and demographic parameters were calculated to evaluate the historical effects of coat color segregation in the configuration of the Hispano-Arabian horse breed. The study found that ignoring coat color inheritance patterns and banning certain coat colors in history may have reduced diversity loss. Additionally, crossbreeding may increase the occurrence of specific coat color combinations. However, coat color bans could lead to longer generation intervals. These findings highlight the importance of considering coat color conditioning effects.
VETERINARY SCIENCES
(2022)
Article
Biotechnology & Applied Microbiology
Thomas J. Hall, Michael P. Mullen, Gillian P. McHugo, Kate E. Killick, Siobhan C. Ring, Donagh P. Berry, Carolina N. Correia, John A. Browne, Stephen Gordon, David E. MacHugh
Summary: This study analyzed host gene expression data from bovine alveolar macrophages infected with M. bovis, identifying core infection response pathways and gene modules at the transcriptome level. Integrating this data with GWAS datasets enhanced the detection of genomic variants associated with susceptibility/resistance to M. bovis infection. The results showed that network-based integration of transcriptomics data can provide additional information from GWAS datasets, with significant differences among breeds in SNP discovery for bTB resilience traits.
Article
Immunology
Dagmara A. Niedziela, Amalia Naranjo-Lucena, Veronica Molina-Hernandez, John A. Browne, Alvaro Martinez-Moreno, Jose Perez, David E. MacHugh, Grace Mulcahy
Summary: This study investigated the transcriptomic response of ovine PBMC to F. hepatica infection, revealing a significant number of differentially expressed genes at 2 weeks post-infection. Comparison with a previous bovine transcriptomic study showed that sheep exhibited activation of anti-inflammatory response pathways in the chronic phase, in contrast to cattle which showed these pathways in the acute phase.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Amalia Naranjo-Lucena, Carolina N. Correia, Veronica Molina-Hernandez, Alvaro Martinez-Moreno, John A. Browne, Jose Perez, David E. MacHugh, Grace Mulcahy
Summary: This study analyzed the gene expression changes in ovine hepatic lymph nodes after infection with Fasciola hepatica using RNA sequencing. The findings suggest that the parasite may evade the host immune response by inhibiting pro-inflammatory pathways, NK cell activity, and IgE-mediated signaling among other key immunological pathways. Understanding these mechanisms will be crucial for the development of future vaccine prototypes against this parasite.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Veterinary Sciences
Kirsten E. McLoughlin, Carolina N. Correia, John A. Browne, David A. Magee, Nicolas C. Nalpas, Kevin Rue-Albrecht, Adam O. Whelan, Bernardo Villarreal-Ramos, H. Martin Vordermeier, Eamonn Gormley, Stephen Gordon, David E. MacHugh
Summary: This study analyzed the transcriptome of hosts infected with Mycobacterium bovis using high-throughput functional genomics technologies, identifying a 19-gene transcriptional biosignature of infection. These genes displayed differential expression at different time points post-infection, serving as candidate host biomarkers for infection.
FRONTIERS IN VETERINARY SCIENCE
(2021)
Article
Cell Biology
Jiangang Han, Sijia Ma, Benmeng Liang, Tianyou Bai, Yuhetian Zhao, Yuehui Ma, David E. MacHugh, Lina Ma, Lin Jiang
Summary: In this study, the researchers investigated the development of fat tail in fat-tail sheep through histological assays, transcriptome analysis, and functional assays. They discovered that fat deposition occurs in the tail at an early embryonic stage, and identified many differentially expressed genes and pathways involved in metabolism. The MTFP1 gene was found to play a crucial role in fat tail development and was highly correlated with other genes.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Biology
Emmeline W. Hill, Martin A. Stoffel, Beatrice A. McGivney, David E. MacHugh, Josephine M. Pemberton
Summary: This study used genomic data from horses to investigate the effects of inbreeding on race performance and identified a genetic haplotype associated with a reduced probability of racing and increased risk of musculoskeletal injury.
PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2022)
Article
Multidisciplinary Sciences
James A. Ward, Gillian P. McHugo, Michael J. Dover, Thomas J. Hall, Said Ismael Ng'ang'a, Tad S. Sonstegard, Daniel G. Bradley, Laurent A. F. Frantz, Michael Salter-Townshend, David E. MacHugh
Summary: The phenotypic diversity of African cattle is a result of adaptation to environmental conditions and human selection, with evidence for coevolution between mitochondrially targeted nuclear genes.
Article
Biology
Haige Han, Beatrice A. McGivney, Lucy Allen, Dongyi Bai, Leanne R. Corduff, Gantulga Davaakhuu, Jargalsaikhan Davaasambuu, Dulguun Dorjgotov, Thomas J. Hall, Andrew J. Hemmings, Amy R. Holtby, Tuyatsetseg Jambal, Badarch Jargalsaikhan, Uyasakh Jargalsaikhan, Naveen K. Kadri, David E. MacHugh, Hubert Pausch, Carol Readhead, David Warburton, Manglai Dugarjaviin, Emmeline W. Hill
Summary: Genetic variants in key genes related to muscle, metabolism, and neurobiology are identified in racehorse breeds, suggesting their important roles in shaping the athletic phenotype of horses bred for racing.
COMMUNICATIONS BIOLOGY
(2022)
Article
Agriculture, Dairy & Animal Science
Amy R. Holtby, Thomas J. Hall, Beatrice A. McGivney, Haige Han, Keith J. Murphy, David E. MacHugh, Lisa M. Katz, Emmeline W. Hill
Summary: Using genomics analyses, we identified SNPs associated with behaviour in yearling Thoroughbred horses, which help horses adapt to training and reduce stress. These SNPs are near genes involved in social behaviour, autism spectrum disorder, suicide, stress-induced anxiety and depression, Alzheimer's disease, neurodevelopmental disorders, neuroinflammatory disease, fear-induced behaviours, and alcohol and cocaine addiction. These findings contribute to improving racehorse welfare by developing genetic markers.
Article
Agriculture, Dairy & Animal Science
Emmeline W. W. Hill, Beatrice A. A. McGivney, David E. E. MacHugh
Summary: The proportion of the genome containing runs of homozygosity affects production traits in livestock populations. In European and Australasian Thoroughbreds, inbreeding quantified using ROH is associated with the probability of ever racing. In North American Thoroughbred horses, F-ROH was not associated with the probability of ever racing but was significantly associated with the number of race starts.
Article
Biochemistry & Molecular Biology
Mary F. Rooney, Nuno G. B. Neto, Michael G. Monaghan, Emmeline W. Hill, Richard K. Porter
Summary: Researchers established three novel equine muscle cell lines, reflecting the characteristics associated with the MSTN gene in horses. The cell lines showed similar phenotype and metabolic function to ex vivo muscle samples with different genotypes. This study contributes to understanding equine muscle metabolism, testing nutritional supplements, developing drug and gene doping tests.
BIOCHEMISTRY AND BIOPHYSICS REPORTS
(2023)
Meeting Abstract
Medicine, General & Internal
M. J. Dover, T. J. Hall, G. P. McHugo, D. E. MacHugh
IRISH JOURNAL OF MEDICAL SCIENCE
(2021)