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Topic:Genetics

Genetics in horses encompasses the study of hereditary traits and the genetic makeup that influences various characteristics and health conditions in equine populations. This field involves the analysis of genes and their functions, inheritance patterns, and the impact of genetic variations on traits such as coat color, performance ability, and susceptibility to diseases. Research in equine genetics employs techniques such as genome mapping, sequencing, and genetic testing to identify specific genes and mutations associated with these traits. This page gathers peer-reviewed research studies and scholarly articles that explore the genetic basis of equine traits, the methodologies used in genetic research, and the implications for breeding, health management, and conservation of horse breeds.
Genomic analysis of resistance/susceptibility to melanoma in Old Kladruber greying horses.
Tissue antigens    January 6, 2012   Volume 79, Issue 4 247-248 doi: 10.1111/j.1399-0039.2011.01827.x
Futas J, Vychodilova L, Hofmanova B, Vranova M, Putnova L, Muzik J, Vyskocil M, Vrtkova I, Dusek L, Majzlik I, Horin P.No abstract available
Investigation of allele frequencies for Lavender foal syndrome in the horse.
Animal genetics    January 4, 2012   Volume 43, Issue 5 650 doi: 10.1111/j.1365-2052.2011.02305.x
Gabreski NA, Haase B, Armstrong CD, Distl O, Brooks SA.No abstract available
Genomic characterization of the Taylorella genus.
PloS one    January 3, 2012   Volume 7, Issue 1 e29953 doi: 10.1371/journal.pone.0029953
Hébert L, Moumen B, Pons N, Duquesne F, Breuil MF, Goux D, Batto JM, Laugier C, Renault P, Petry S.The Taylorella genus comprises two species: Taylorella equigenitalis, which causes contagious equine metritis, and Taylorella asinigenitalis, a closely-related species mainly found in donkeys. We herein report on the first genome sequence of T. asinigenitalis, analyzing and comparing it with the recently-sequenced T. equigenitalis genome. The T. asinigenitalis genome contains a single circular chromosome of 1,638,559 bp with a 38.3% GC content and 1,534 coding sequences (CDS). While 212 CDSs were T. asinigenitalis-specific, 1,322 had orthologs in T. equigenitalis. Two hundred and thirty-four T...
Profiling of differentially expressed genes using suppression subtractive hybridization in an equine model of chronic asthma.
PloS one    January 3, 2012   Volume 7, Issue 1 e29440 doi: 10.1371/journal.pone.0029440
Lavoie JP, Lefebvre-Lavoie J, Leclere M, Lavoie-Lamoureux A, Chamberland A, Laprise C, Lussier J.Gene expression analyses are used to investigate signaling pathways involved in diseases. In asthma, they have been primarily derived from the analysis of bronchial biopsies harvested from mild to moderate asthmatic subjects and controls. Due to ethical considerations, there is currently limited information on the transcriptome profile of the peripheral lung tissues in asthma. Objective: To identify genes contributing to chronic inflammation and remodeling in the peripheral lung tissue of horses with heaves, a naturally occurring asthma-like condition. Methods: Eleven adult horses (6 heaves-af...
Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia.
Canadian journal of veterinary research = Revue canadienne de recherche veterinaire    January 3, 2012   Volume 75, Issue 3 222-227 
Macieira S, Lussier J, Bédard C.Glanzmann thrombasthenia (GT) is characterized by a defect of platelet aggregation. This autosomal recessive genetic disorder is caused by an abnormality of the platelet glycoprotein receptors alpha IIb or beta III. Recently, we identified a horse with clinical and pathological features of GT. The aim of this study was to describe this case of GT at the molecular level. A point mutation from G to C in exon 2 of ITGA2B causing a substitution of the expected amino acid arginine 72 (Arg(72)) by a proline (Pro(72)) was encountered. This amino acid change may result in abnormal structural conformat...
The biology of equine mesenchymal stem cells: phenotypic characterization, cell surface markers and multilineage differentiation.
Frontiers in bioscience (Landmark edition)    January 1, 2012   Volume 17, Issue 3 892-908 doi: 10.2741/3963
Penny J, Harris P, Shakesheff KM, Mobasheri A.Mesenchymal stem cells (MSCs) are multipotent stem cells that can give rise to a range of connective tissue cells including osteoblasts, chondrocytes and adipocytes. MSCs have been isolated from humans and a variety of animal species including rodents, dogs, horses and rabbits. There is currently no consensus on how these cells are identified and characterized. This is partly due to the lack of standardized specific cell surface markers for MSCs. The aim of this review is to examine the literature on equine MSCs and establish whether there is a well-defined phenotype for these cells. Equine MS...
Emergence of novel equine arteritis virus (EAV) variants during persistent infection in the stallion: origin of the 2007 French EAV outbreak was linked to an EAV strain present in the semen of a persistently infected carrier stallion.
Virology    December 29, 2011   Volume 423, Issue 2 165-174 doi: 10.1016/j.virol.2011.11.028
Miszczak F, Legrand L, Balasuriya UB, Ferry-Abitbol B, Zhang J, Hans A, Fortier G, Pronost S, Vabret A.During the summer of 2007, an outbreak of equine viral arteritis (EVA) occurred in Normandy (France). After investigation, a link was suggested between an EAV carrier stallion (A) and the index premise of the outbreak. The full-length nucleotide sequence analysis of a study reference strain (F27) isolated from the lung of a foal revealed a 12,710 nucleotides EAV genome with unique molecular hallmarks in the 5'UTR leader sequence and the ORF1a sequence encoding the non-structural protein 2. The evolution of the viral population in the persistently infected Stallion A was then studied by cloning...
Heritability estimates for racing performance in Japanese Thoroughbred racehorses using linear and non-linear model analyses.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    December 28, 2011   Volume 129, Issue 5 402-408 doi: 10.1111/j.1439-0388.2011.00982.x
Tozaki T, Miyake T, Kakoi H, Gawahara H, Hirota K, Nakano Y, Kurosawa M.This study evaluated the differences between linear and non-linear modelled heritability estimates of racing performance based on lifetime earnings (LE) and lifetime ranking (LR) in Japanese Thoroughbred racehorses. The heritability estimate (h(2) = 0.25) obtained from a non-linear model based on formal Japan Racing Association ranking was much higher than that obtained from a linear model based on the original trait phenotype (h(2) = 0.11). The linear models showed slightly higher heritability estimates under the trait categorizations than under the original phenotypes, while the non-linear c...
Application of IGF2-specific identifier probe for cytogenetic study of somatic and sperm cells in horses.
Folia biologica    December 27, 2011   Volume 59, Issue 3-4 147-149 doi: 10.3409/fb59_3-4.147-149
Potocki L, Bugno-Poniewierska M, Tischner M, Wnuk M.The development of molecular techniques with fluorochromes has had an invaluable impact on discovering the nature of chromatin structure. Here, we show the application of a locus specific identifier probe (LSI) for precise and selective visualization of the horse IGF2 gene in the metaphase, interphase nuclei and sperm cells. Our study may be helpful for interpretation of results of interphase fluorescence in situ hybridization (I-FISH). We analyze and discuss the variation in the number and localization of FISH signals in somatic and sperm cells of horse.
Advanced glycation endproducts in horses with insulin-induced laminitis.
Veterinary immunology and immunopathology    December 26, 2011   Volume 145, Issue 1-2 395-401 doi: 10.1016/j.vetimm.2011.12.016
de Laat MA, Kyaw-Tanner MT, Sillence MN, McGowan CM, Pollitt CC.Advanced glycation endproducts (AGEs) have been implicated in the pathogenesis of cancer, inflammatory conditions and diabetic complications. An interaction of AGEs with their receptor (RAGE) results in increased release of pro-inflammatory cytokines and reactive oxygen species (ROS), causing damage to susceptible tissues. Laminitis, a debilitating foot condition of horses, occurs in association with endocrine dysfunction and the potential involvement of AGE and RAGE in the pathogenesis of the disease has not been previously investigated. Glucose transport in lamellar tissue is thought to be l...
Expression, refolding and preliminary X-ray crystallographic analysis of equine MHC class I molecule complexed with an EIAV-Env CTL epitope.
Acta crystallographica. Section F, Structural biology and crystallization communications    December 24, 2011   Volume 68, Issue Pt 1 20-23 doi: 10.1107/S1744309111038139
Yao S, Qi J, Liu J, Chen R, Pan X, Li X, Gao F, Xia C.In order to clarify the structure and the peptide-presentation characteristics of the equine major histocompatibility complex (MHC) class I molecule, a complex of equine MHC class I molecule (ELA-A1 haplotype, 7-6 allele) with mouse β(2)-microglobulin and the cytotoxic T lymphocyte (CTL) epitope Env-RW12 (RVEDVTNTAEYW) derived from equine infectious anaemia virus (EIAV) envelope protein (residues 195-206) was refolded and crystallized. The crystal, which belonged to space group P2(1), diffracted to 2.3 Å resolution and had unit-cell parameters a = 82.5, b = 71.4, c = 99.8 Å, β = 102.9°. T...
A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
Neuromuscular disorders : NMD    December 23, 2011   Volume 22, Issue 4 361-367 doi: 10.1016/j.nmd.2011.10.001
Wijnberg ID, Owczarek-Lipska M, Sacchetto R, Mascarello F, Pascoli F, Grünberg W, van der Kolk JH, Drögemüller C.A 7-month-old New Forest foal presented for episodes of recumbency and stiffness with myotonic discharges on electromyography. The observed phenotype resembled congenital myotonia caused by CLCN1 mutations in goats and humans. Mutation of the CLCN1 gene was considered as possible cause and mutation analysis was performed. The affected foal was homozygous for a missense mutation (c.1775A>C, p.D592A) located in a well conserved domain of the CLCN1 gene. The mutation showed a recessive mode of inheritance within the reported pony family. Therefore, this CLCN1 polymorphism is considered to be a...
Characterization of cytochrome b diversity in Chinese domestic horses.
Animal genetics    December 21, 2011   Volume 43, Issue 5 624-626 doi: 10.1111/j.1365-2052.2011.02298.x
Yue XP, Qin F, Campana MG, Liu DH, Mao CC, Wang XB, Lan XY, Chen H, Lei CZ.Previous mitochondrial DNA (mtDNA) D-loop and microsatellite studies have shown that Chinese horses have multiple maternal origins and high genetic diversity. To better characterize maternal genetic origins and diversity of Chinese domestic horses, we conducted a comprehensive analysis of 407 complete 1140 bp sequences of the horse mitochondrially encoded cytochrome b (CYTB) gene, including 323 horses from 13 Chinese indigenous breeds and 84 reference sequences from GenBank. A total of 114 haplotypes were identified, of which 73 appeared among the 13 Chinese horse breeds. The high mitochondria...
Complete molecular genome analyses of equine rotavirus A strains from different continents reveal several novel genotypes and a largely conserved genotype constellation.
The Journal of general virology    December 21, 2011   Volume 93, Issue Pt 4 866-875 doi: 10.1099/vir.0.039255-0
Matthijnssens J, Miño S, Papp H, Potgieter C, Novo L, Heylen E, Zeller M, Garaicoechea L, Badaracco A, Lengyel G, Kisfali P, Cullinane A, Collins PJ....In this study, the complete genome sequences of seven equine group A rotavirus (RVA) strains (RVA/Horse-tc/GBR/L338/1991/G13P[18], RVA/Horse-wt/IRL/03V04954/2003/G3P[12] and RVA/Horse-wt/IRL/04V2024/2004/G14P[12] from Europe; RVA/Horse-wt/ARG/E30/1993/G3P[12], RVA/Horse-wt/ARG/E403/2006/G14P[12] and RVA/Horse-wt/ARG/E4040/2008/G14P[12] from Argentina; and RVA/Horse-wt/ZAF/EqRV-SA1/2006/G14P[12] from South Africa) were determined. Multiple novel genotypes were identified and genotype numbers were assigned by the Rotavirus Classification Working Group: R9 (VP1), C9 (VP2), N9 (NSP2), T12 (NSP3), ...
The impact of cushioned centrifugation protocols on semen quality of stallions.
Theriogenology    December 20, 2011   Volume 77, Issue 6 1232-1239 doi: 10.1016/j.theriogenology.2011.10.031
Bliss SB, Voge JL, Hayden SS, Teague SR, Brinsko SP, Love CC, Blanchard TL, Varner DD.The objective was to determine if decreased cushion-fluid volume and increased sperm number during centrifugation, or if sperm concentration of extended semen following centrifugation, affected stallion sperm quality. Three ejaculates from each of three stallions were subjected to cushioned centrifugation (1,000g for 20 min). Cushion-fluid volume was set at 1 or 3.5 ml, and sperm number per centrifuge tube was set 1 billion or 3 billion. Following centrifugation, sperm pellets were resuspended in semen extender containing 20% seminal plasma (v/v) with sperm concentrations of 25 or 250 million/...
Genetic analyses of new movement traits using detailed evaluations of warmblood foals and mares.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    December 20, 2011   Volume 129, Issue 5 390-401 doi: 10.1111/j.1439-0388.2011.00980.x
Becker AC, Stock KF, Distl O.Detailed movement evaluations of warmblood foals and mares were performed in connection with regular breeding events of the Oldenburg horse breeding societies in 2009 and 2010. Unfavourable movement characteristics considered indicative for impaired balance were noted by a special judge (SJ) and the regular judges of the breeding events (RJ) and served as the basis for definition of new movement traits. Detailed movement information on 3374 foals and 2844 mares showed that more severe findings like irregular motion pattern in hind legs or irregularity in general motion pattern occurred only sp...
Cytokines tumor necrosis factor-α and interferon-γ participate in modulation of the equine corpus luteum as autocrine and paracrine factors.
Journal of reproductive immunology    December 18, 2011   Volume 93, Issue 1 28-37 doi: 10.1016/j.jri.2011.11.002
Galvão A, Skarzynski DJ, Szóstek A, Silva E, Tramontano A, Mollo A, Mateus L, Ferreira-Dias G.Knowledge on the regulation of corpus luteum (CL) function in the mare is scarce. In this study, the presence of cytokines tumor necrosis factor alpha (TNF) and interferon gamma (IFNG), and their receptors (TNFRI, TNFRII and IFNRI), was investigated in equine CL throughout the luteal phase. The effects of TNF and IFNG on secretory function and viability of luteal cells were defined in vitro. Cytokine ligands and receptors were present in steroidogenic and endothelial cells. Protein expression for TNF was greater in mid-phase and regressing CL, while TNFRI was increased in regressing CL and TNF...
Mathematical modelling of tissue formation in chondrocyte filter cultures.
European cells & materials    December 17, 2011   Volume 22 377-392 doi: 10.22203/ecm.v022a28
Catt CJ, Schuurman W, Sengers BG, van Weeren PR, Dhert WJ, Please CP, Malda J.In the field of cartilage tissue engineering, filter cultures are a frequently used three-dimensional differentiation model. However, understanding of the governing processes of in vitro growth and development of tissue in these models is limited. Therefore, this study aimed to further characterise these processes by means of an approach combining both experimental and applied mathematical methods. A mathematical model was constructed, consisting of partial differential equations predicting the distribution of cells and glycosaminoglycans (GAGs), as well as the overall thickness of the tissue....
Nonruminant Nutrition Symposium: Involvement of gut neural and endocrine systems in pathological disorders of the digestive tract.
Journal of animal science    December 16, 2011   Volume 90, Issue 4 1203-1212 doi: 10.2527/jas.2011-4825
Furness JB, Poole DP.The functioning of the gastrointestinal tract is under the control of the most extensive system of peripheral neurons in the body, the enteric nervous system, and the largest endocrine system of the body, the GEP endocrine system. The enteric nervous system in large mammals contains 500 million neurons, and the GEP endocrine system produces more than 30 hormones. Numerous enteric neuropathies affecting both humans and animals have been described and digestive disorders affect commercially important species, such as horses and cattle. The most severe enteric neuropathies (e.g., lethal white syn...
[Uterine torsion in the mare – a review of the literature].
Tierarztliche Praxis. Ausgabe G, Grosstiere/Nutztiere    December 15, 2011   Volume 39, Issue 6 403-411 
Kessel-Franke U, Ennen S, Wehrend A.No abstract available
[DNA research proofs identity of horses and cows].
Tijdschrift voor diergeneeskunde    December 15, 2011   Volume 136, Issue 11 808-809 
Haneveld JK.No abstract available
Clarithromycin is absorbed by an intestinal uptake mechanism that is sensitive to major inhibition by rifampicin: results of a short-term drug interaction study in foals.
Drug metabolism and disposition: the biological fate of chemicals    December 14, 2011   Volume 40, Issue 3 522-528 doi: 10.1124/dmd.111.042267
Peters J, Eggers K, Oswald S, Block W, Lütjohann D, Lämmer M, Venner M, Siegmund W.Pulmonary penetration of clarithromycin (CLR) in epithelial lining fluid (ELF) and bronchoalveolar lavage cells (BALCs) can be influenced by CYP3A4, by P-glycoprotein, and, according to our hypothesis, by a member of the organic anion-transporting protein (OATP) family, for which rifampicin (RIF) is inhibiting in single doses but inducing after long-term coadministration. To assess the partial inhibitory effect, we measured absorption and pulmonary distribution of CLR after short-term (2.5-day) coadministration of RIF, after which up-regulation is not expected. The drug interaction study was p...
Genetic structure and differentiation of the Italian catria horse.
The Journal of heredity    December 14, 2011   Volume 103, Issue 1 134-139 doi: 10.1093/jhered/esr121
Bigi D, Perrotta G.Catria is 1 of the 22 native Italian horse breeds that now survive from a larger number. Thirty individuals, representative of the Catria horse, were analyzed for 11 microsatellites and compared with data of 10 breeds reared in Italy. Three different approaches, genetic distances, correspondence analysis, and clustering methods, were considered to study genetic relationships among Catria and the other horse populations. Genetic differentiation among breeds was highly significant (P < 0.01) for all loci. Average F(ST) values indicate that around 10% of the total genetic variation was explain...
Effect of progesterone on the in vitro response of peripheral blood mononuclear cells stimulated by Escherichia coli in mares.
The Journal of veterinary medical science    December 13, 2011   Volume 74, Issue 5 629-632 doi: 10.1292/jvms.11-0364
Maeda Y, Ohtsuka H, Tomioka M, Tanabe T, Nambo Y, Uematsu H, Oikawa MA.Escherichia coli(E. coli) isolated from the uterus of a Thoroughbred mare with bacterial endometritis was used to evaluate the effect of progesterone (P(4)) on the immune response of mares. Peripheral blood mononuclear cells (PBMCs) were collected from 10 nonpregnant clinically healthy adult mares (range, 4-12 years) during diestrus, four Thoroughbreds and six Hokkaido native horses. Cell proliferation and expression of cytokine mRNA, including interferon (IFN)-γ, tumor necrosis factor (TNF)-α and interleukin (IL)-10, of PBMCs stimulated with E. coli and P(4) were examined in vitro. P(4) was...
Characterization and differentiation of equine tendon-derived progenitor cells.
Journal of biological regulators and homeostatic agents    December 8, 2011   Volume 25, Issue 2 Suppl S75-S84 
Lovati AB, Corradetti B, Lange Consiglio A, Recordati C, Bonacina E, Bizzaro D, Cremonesi F.Mesenchymal stem cells have been recently investigated for their potential use in regenerative medicine. Population of adult stem cells were recently identified in human and lab animal tendons, but no detailed investigations have been made in the equine species. The aim of our study is to identify a progenitor cell population from tendon tissue (TSPCs) in the horse superficial digital flexor tendon that are able to be highly clonogenic, to grow fast and to differentiate in different induced cell lineages as well as bone marrow derived progenitor cells (BM-MSCs). The hypothesis that TSPCs posse...
Changes in histone H4 acetylation during in vivo versus in vitro maturation of equine oocytes.
Molecular human reproduction    December 7, 2011   Volume 18, Issue 5 243-252 doi: 10.1093/molehr/gar077
Franciosi F, Lodde V, Goudet G, Duchamp G, Deleuze S, Douet C, Tessaro I, Luciano AM.Epigenetic modifications are established during gametogenesis and preimplantation embryonic development. Any disturbance of the normal natural environment during these critical phases could cause alterations of the epigenetic signature. Histone acetylation is an important epigenetic modification involved in the regulation of chromatin organization and gene expression. The present study was aimed to determine whether the proper establishment of post-translational histone H4 acetylation at lysine 8 (AcH4K8), 12 (AcH4K12) and 16 (AcH4K16) of equine oocytes is adversely affected during in vitro ma...
Sperm selection using single layer centrifugation prior to cryopreservation can increase thawed sperm quality in stallions.
Equine veterinary journal. Supplement    December 7, 2011   Issue 40 35-41 doi: 10.1111/j.2042-3306.2011.00489.x
Hoogewijs M, Morrell J, Van Soom A, Govaere J, Johannisson A, Piepers S, De Schauwer C, De Kruif A, De Vliegher S.The increasing use of modern reproductive techniques in human medicine has led to a higher demand for isolation of motile sperm. Several of these isolation techniques have been adapted for veterinary use and can be applied for the selection of a superior sperm sample from stallion semen. Until recently a major disadvantage of such isolation techniques was the limitation in sperm volume that could be handled. Androcoll-E had been shown to be successful for processing large volumes of equine semen but there are few data to substantiate the potential beneficial effect of freezing an Androcoll-E s...
[Hypospadias in a Friesian foal. A case report].
Tierarztliche Praxis. Ausgabe G, Grosstiere/Nutztiere    December 6, 2011   Volume 39, Issue 2 113-115 
Grijsen FL.No abstract available
Localization of Bovine papillomavirus in equine sarcoids and inflammatory skin conditions of horses using laser microdissection and two forms of DNA amplification. Wobeser BK, Hill JE, Jackson ML, Kidney BA, Mayer MN, Townsend HG, Allen AL.Equine sarcoids are the most common tumor of horses. Bovine papillomavirus (BPV) has been suggested as the cause of sarcoids. Studies have shown that BPV is present in swabs or biopsies from nonsarcoid-bearing equine skin. Skin biopsies from a variety of different conditions and normal skin from horses with no reported history of sarcoids were examined by polymerase chain reaction (PCR) for the presence of BPV, which was found in all different types of skin conditions as well as normal skin. Forty-one out of 86 skin biopsies from horses without sarcoids were found to contain BPV DNA. Laser mic...
Carts, Horses, and Push-Pull Regulation of EGABA in Neonatal Seizures.
Epilepsy currents    December 2, 2011   Volume 11, Issue 6 205-208 doi: 10.5698/1535-7511-11.6.205
Staley K.No abstract available