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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.
Development of an ELA-DRA gene typing method based on pyrosequencing technology.
Tissue antigens    August 26, 2008   Volume 72, Issue 5 464-468 doi: 10.1111/j.1399-0039.2008.01113.x
Díaz S, Echeverría MG, It V, Posik DM, Rogberg-Muñoz A, Pena NL, Peral-García P, Vega-Pla JL, Giovambattista G.The polymorphism of equine lymphocyte antigen (ELA) class II DRA gene had been detected by polymerase chain reaction-single-strand conformational polymorphism (PCR-SSCP) and reference strand-mediated conformation analysis. These methodologies allowed to identify 11 ELA-DRA exon 2 sequences, three of which are widely distributed among domestic horse breeds. Herein, we describe the development of a pyrosequencing-based method applicable to ELA-DRA typing, by screening samples from eight different horse breeds previously typed by PCR-SSCP. This sequence-based method would be useful in high-throug...
Factors influencing the “sortability” of stallion spermatozoa into X- and Y-chromosome bearing populations.
Animal reproduction science    August 20, 2008   Volume 113, Issue 1-4 220-228 doi: 10.1016/j.anireprosci.2008.08.019
Clulow JR, Evans G, Morris LH, Maxwell WM.Intrinsic differences between stallions exist for semen traits such as motility, morphology fertility and the ability of spermatozoa to survive cryopreservation processes. Ejaculates from 11 stallions were used to test the differences between stallions when selecting X- and Y-chromosome bearing spermatozoa using a modified flow cytometer. Data on orientation and viability of spermatozoa were collected during sex-sorting, and motility characteristics of sex-sorted and non-sorted (control) spermatozoa were assessed before and after cryopreservation. An index was created to rank each stallion in ...
Equine veterinary journal. Issue content.
Equine veterinary journal    August 16, 2008   Volume 40, Issue 5 430 doi: 10.2746/042516408x327431
Rossdale PD.No abstract available
Mule or hinny might be a natural model for studying the role of parent genomes in carcinogenesis.
Medical hypotheses    August 16, 2008   Volume 71, Issue 5 810-811 doi: 10.1016/j.mehy.2008.07.001
Guo S, Lu J, Li H, Ye J, Ma F, Wang Y, Li Q, Zhang F.No abstract available
Isolation and analysis of the genetic diversity of repertoires of VSG expression site containing telomeres from Trypanosoma brucei gambiense, T. b. brucei and T. equiperdum.
BMC genomics    August 12, 2008   Volume 9 385 doi: 10.1186/1471-2164-9-385
Young R, Taylor JE, Kurioka A, Becker M, Louis EJ, Rudenko G.African trypanosomes (including Trypanosoma brucei) are unicellular parasites which multiply in the mammalian bloodstream. T. brucei has about twenty telomeric bloodstream form Variant Surface Glycoprotein (VSG) expression sites (BESs), of which one is expressed at a time in a mutually exclusive fashion. BESs are polycistronic transcription units, containing a variety of families of expression site associated genes (ESAGs) in addition to the telomeric VSG. These polymorphic ESAG families are thought to play a role in parasite-host adaptation, and it has been proposed that ESAG diversity might ...
Isolation, in vitro culture and characterization of foal umbilical cord stem cells at birth.
Veterinary research communications    August 9, 2008   Volume 32 Suppl 1 S139-S142 doi: 10.1007/s11259-008-9116-0
Cremonesi F, Violini S, Lange Consiglio A, Ramelli P, Ranzenigo G, Mariani P.No abstract available
Preliminary molecular identification of drug resistant cyathostomes in Italy.
Veterinary research communications    August 8, 2008   Volume 32 Suppl 1 S211-S213 doi: 10.1007/s11259-008-9156-5
Lia RP, Traversa D, Iorio R, Otranto D, Klei TR, Ricci V, Giangaspero A.No abstract available
Proteins involved in calcium homeostasis expressed in horse cardiomyocytes.
Veterinary research communications    August 8, 2008   Volume 32 Suppl 1 S159-S162 doi: 10.1007/s11259-008-9111-5
Mascarello F, Sharova E, Patruno M, Maccatrozzo L, Damiani E, Sacchetto R.No abstract available
Seasonal effects on the response of ovarian follicles to IGF1 in mares.
Reproduction (Cambridge, England)    August 7, 2008   Volume 136, Issue 5 589-598 doi: 10.1530/REP-07-0507
Doyle LK, Hogg CO, Watson ED, Donadeu FX.The response of follicles to IGF1 was compared between the transition into the ovulatory season (transitional period) and the ovulatory season (ovulatory period) in eight mares using a cross-over experimental design within periods. Granulosa cells were collected from follicles 15-24 or 25-34 mm and expression of IGF1R, IGF2R, FSHR, LHCGR and PAPPA was determined by qPCR. In addition, 10 mg IGF1 or vehicle were injected into the largest follicle (transitional period) or the second largest follicle (ovulatory period) of a follicular wave before the beginning of diameter deviation between the two...
Glycogen synthase 1 (GYS1) mutation in diverse breeds with polysaccharide storage myopathy.
Journal of veterinary internal medicine    August 6, 2008   Volume 22, Issue 5 1228-1233 doi: 10.1111/j.1939-1676.2008.0167.x
McCue ME, Valberg SJ, Lucio M, Mickelson JR.A missense mutation in the GYS1 gene was recently described in horses with polysaccharide storage myopathy (PSSM). Objective: The first objective was to determine the prevalence of the GYS1 mutation in horses with PSSM from diverse breeds. The second objective was to determine if the prevalence of the GYS1 mutation differed between horses diagnosed with PSSM based on grade 1 (typically amylase-sensitive) or grade 2 (typically amylase-resistant) polysaccharide. Methods: Eight hundred and thirty-one PSSM horses from 36 breeds. Methods: Horses with PSSM diagnosed by histopathology of skeletal mus...
[Genetics of recurrent airway obstruction (RAO)].
DTW. Deutsche tierarztliche Wochenschrift    August 5, 2008   Volume 115, Issue 7 271-275 
Gerber V, Swinburne JE, Blott SC, Nussbaumer P, Ramseyer A, Klukowska-Rötzler J, Dolf G, Marti E, Burger D, Leeb T.Recurrent airway obstruction (RAO) is a multifactorial and polygenic disease. Affected horses are typically 7 years of age or older and show exercise intolerance, increased breathing effort, coughing, airway neutrophilia, mucus accumulation and hyperreactivity as well as cholinergic bronchospasm. The environmental factors responsible are predominantly allergens and irritants in haydust, but the immunological mechanisms underlying RAO are still unclear. Several studies have demonstrated a familiar predisposition for RAO and it is now proven that the disease has a genetic basis. In offspring, th...
Actions of a nitric oxide donor on prostaglandin production and angiogenic activity in the equine endometrium.
Reproduction, fertility, and development    August 2, 2008   Volume 20, Issue 6 674-683 doi: 10.1071/rd08015
Roberto da Costa RP, Costa AS, Korzekwa AJ, Platek R, Siemieniuch M, Galvão A, Redmer DA, Silva JR, Skarzynski DJ, Ferreira-Dias G.Nitric oxide (NO) plays an important role in prostaglandin secretion and angiogenesis in the reproductive system. In the present study, the roles of the NO donor spermine NONOate and tumour necrosis factor-alpha (TNF; as a positive control) in prostaglandin production and angiogenic activity of equine endometria during the oestrous cycle were evaluated. In addition, the correlation between NO production and the expression of key prostaglandin synthase proteins was determined. The protein expression of prostaglandin F synthase (PGFS) increased in early and mid-luteal stages, whereas that of pro...
Genetic analysis of the Hispano-Breton heavy horse.
Animal genetics    August 1, 2008   Volume 39, Issue 5 506-514 doi: 10.1111/j.1365-2052.2008.01762.x
Pérez-Gutiérrez LM, De la Peña A, Arana P.Hispano-Breton (HB) is a horse breed with a recent mixed ancestry. It was developed in the 1930s by crossing local mares with Breton draught horses imported from France. Nowadays it is considered to be in a vulnerable situation due to census decline. To genetically characterize the breed and to set up the basis for a conservation programme, we have employed two types of molecular markers: a 347-bp D-loop mitochondrial DNA (mtDNA) fragment and 13 microsatellite loci. A representative sample of 53 HB individuals was analysed together with a sample of 40 Pura Raza Española horses for comparison....
Inherited disease in the horse: mapping complex disease variants is on the horizon.
Veterinary journal (London, England : 1997)    July 31, 2008   Volume 179, Issue 3 317-318 doi: 10.1016/j.tvjl.2008.06.002
Swinburne J.No abstract available
Report of the 3rd Havemeyer workshop on allergic diseases of the Horse, Hólar, Iceland, June 2007.
Veterinary immunology and immunopathology    July 31, 2008   Volume 126, Issue 3-4 351-361 doi: 10.1016/j.vetimm.2008.07.008
Marti E, Gerber V, Wilson AD, Lavoie JP, Horohov D, Crameri R, Lunn DP, Antczak D, Björnsdóttir S, Björnsdóttir TS, Cunningham F, Dérer M....Allergic diseases occur in most mammals, although some species such as humans, dogs and horses seem to be more prone to develop allergies than others. In horses, insect bite hypersensitivity (IBH), an allergic dermatitis caused by bites of midges, and recurrent airway obstruction (RAO), a hyperreactivity to stable born dust and allergens, are the two most prevalent allergic diseases. Allergic diseases involve the interaction of three major factors: (i) genetic constitution, (ii) exposure to allergens, and (iii) a dysregulation of the immune response determined by (i) and (ii). However, other e...
Use of a low dose of equine purified FSH to induce multiple ovulations in mares.
Reproduction in domestic animals = Zuchthygiene    July 30, 2008   Volume 44, Issue 3 380-383 doi: 10.1111/j.1439-0531.2007.01020.x
Araujo GH, Rocha Filho AN, Lopes EP, Moya CF, Alvarenga MA.The effects of a low dose of equine purified FSH (eFSH) on incidence of multiple ovulations and embryo recovery rate in mares were studied. During the physiological breeding season in Brazil (19 degrees 45'45'S), 14 Mangalarga Marchador donor mares were used in a crossover study and another 25 mares of the same breed, between 3 years and 12 years of age were used as recipients for the embryo transfers. Donors were monitored during two consecutive oestrus cycles, an untreated control cycle followed by a treated cycle, when eFSH was administered. In both cycles, after an embryo collection attemp...
An equine infectious anemia virus variant superinfects cells through novel receptor interactions.
Journal of virology    July 30, 2008   Volume 82, Issue 19 9425-9432 doi: 10.1128/JVI.01142-08
Brindley MA, Zhang B, Montelaro RC, Maury W.Wild-type strains of equine infectious anemia virus (EIAV) prevent superinfection of previously infected cells. A variant strain of virus that spontaneously arose during passage, EIAV(vMA-1c), can circumvent this mechanism in some cells, such as equine dermis (ED) cells, but not in others, such as equine endothelial cells. EIAV(vMA-1c) superinfection of ED cells results in a buildup of unintegrated viral DNA and rapid killing of the cell monolayer. Here, we examined the mechanism of resistance that is used by EIAV to prevent superinfection and explored the means by which EIAV(vMA-1c) overcomes...
Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).
Genetics    July 27, 2008   Volume 179, Issue 4 1861-1870 doi: 10.1534/genetics.108.088807
Bellone RR, Brooks SA, Sandmeyer L, Murphy BA, Forsyth G, Archer S, Bailey E, Grahn B.The appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene (LP). Homozygosity for LP (LP/LP) is directly associated with congenital stationary night blindness (CSNB) in Appaloosa horses. LP maps to a 6-cM region on ECA1. We investigated the relative expression of two functional candidate genes located in this LP candidate region (TRPM1 and OCA2), as well as three other linked loci (TJP1, MTMR10, and OTUD7A) by quantitative real-time RT-PCR. No large differences were found for expression levels of TJP1, MTMR10, OTUD7A, and OCA2. However, TRPM1 (Transient Recept...
Equine coagulopathies.
The Veterinary clinics of North America. Equine practice    July 26, 2008   Volume 24, Issue 2 335-vi doi: 10.1016/j.cveq.2008.05.001
Brooks MB.The most common cause of hemorrhage is vascular injury; however, the possibility of hemostatic failure should be considered in the initial differential diagnosis. This article provides an overview of preliminary screening and definitive tests to identify hemostatic defects in horses.
Immunodeficiency disorders in horses.
The Veterinary clinics of North America. Equine practice    July 26, 2008   Volume 24, Issue 2 299-vi doi: 10.1016/j.cveq.2008.03.003
Crisman MV, Scarratt WK.Immunodeficiencies are characterized as primary (genetic) or secondary (acquired). Primary immunodeficiencies are relatively uncommon; however, clinically, they present a significant challenge to the practitioner, especially if the underlying disorder goes unrecognized. Secondary immunodeficiencies may present at any age, but failure of passive transfer in neonatal foals is most commonly encountered. This article provides a general overview of clinical signs and diagnosis of primary and secondary immunodeficiencies currently recognized in horses.
Seasonality of reproduction in mammals: intimate regulatory mechanisms and practical implications.
Reproduction in domestic animals = Zuchthygiene    July 25, 2008   Volume 43 Suppl 2 40-47 doi: 10.1111/j.1439-0531.2008.01141.x
Chemineau P, Guillaume D, Migaud M, Thiéry JC, Pellicer-Rubio MT, Malpaux B.Farm mammals generally express seasonal variations in their production traits, thus inducing changing availability of fresh derived animal products (meat, milk and cheese) or performances (horses). This is due to a more or less marked seasonal birth distribution in sheep and goats, in horses but not cattle. Birth peak occurs at the end of winter-early spring, the most favourable period for the progeny to survive. Most species show seasonal variations in their ovulation frequency (presence or absence of ovulation), spermatogenic activity (from moderate decrease to complete absence of sperm prod...
Identification of factors associated with the development of insect bite hypersensitivity in horses in The Netherlands.
Tijdschrift voor diergeneeskunde    July 25, 2008   Volume 133, Issue 13 554-559 
van den Boom R, Ducro B, Sloet van Oldruitenborgh-Oosterbaan MM.An Internet-based questionnaire among horse owners was carried out to identify factors affecting the incidence of insect bite hypersensitivity (IBHI) among horses in the Netherlands. Information was obtained for 794 horses of various breeds, but the breed distribution was not representative for the Dutch horse population. Of the horses for which information was available, 56% suffered from IBH and 44% did not. The most common clinical symptoms were pruritus, scaling, and hair loss, occurring mainly at the base of the tail and along the mane. Breed, age, region (and local habitat), stabling, ty...
Somatic cell nuclear transfer in horses.
Reproduction in domestic animals = Zuchthygiene    July 25, 2008   Volume 43 Suppl 2 331-337 doi: 10.1111/j.1439-0531.2008.01181.x
Galli C, Lagutina I, Duchi R, Colleoni S, Lazzari G.The cloning of equids was achieved in 2003, several years after the birth of Dolly the sheep and also after the cloning of numerous other laboratory and farm animal species. The delay was because of the limited development in the horse of more classical-assisted reproductive techniques required for successful cloning, such as oocyte maturation and in vitro embryo production. When these technologies were developed, the application of cloning also became possible and cloned horse offspring were obtained. This review summarizes the main technical procedures that are required for cloning equids an...
Mechanisms for dominant follicle selection in monovulatory species: a comparison of morphological, endocrine and intraovarian events in cows, mares and women.
Reproduction in domestic animals = Zuchthygiene    July 25, 2008   Volume 43 Suppl 2 48-56 doi: 10.1111/j.1439-0531.2008.01142.x
Mihm M, Evans AC.The selection of a single ovarian follicle for further differentiation and finally ovulation is a shared phenomenon in monovulatory species from different phylogenetic classes. The commonality of dominant follicle (DF) development leads us to hypothesize that mechanisms for DF selection are conserved. This review highlights similarities and differences in follicular wave growth between cows, mares and women, addresses the commonality of the transient rises in FSH concentrations, and discusses the follicular secretions oestradiol and inhibin with their regulatory roles for FSH. In all three spe...
Complementary DNA cloning, functional expression and characterization of a novel cytochrome P450, CYP2D50, from equine liver.
Biochemical pharmacology    July 23, 2008   Volume 76, Issue 7 904-911 doi: 10.1016/j.bcp.2008.07.016
DiMaio Knych HK, Stanley SD.Members of the CYP2D family constitute only about 2-4% of total hepatic CYP450s, however, they are responsible for the metabolism of 20-25% of commonly prescribed therapeutic compounds. CYP2D enzymes have been identified in a number of different species. However, vast differences in the metabolic activity of these enzymes have been well documented. In the horse, the presence of a member of the CYP2D family has been suggested from studies with equine liver microsomes, however its presence has not been definitively proven. In this study a cDNA encoding a novel CYP2D enzyme (CYP2D50) was cloned f...
A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse.
Nature genetics    July 20, 2008   Volume 40, Issue 8 1004-1009 doi: 10.1038/ng.185
Rosengren Pielberg G, Golovko A, Sundström E, Curik I, Lennartsson J, Seltenhammer MH, Druml T, Binns M, Fitzsimmons C, Lindgren G, Sandberg K....In horses, graying with age is an autosomal dominant trait associated with a high incidence of melanoma and vitiligo-like depigmentation. Here we show that the Gray phenotype is caused by a 4.6-kb duplication in intron 6 of STX17 (syntaxin-17) that constitutes a cis-acting regulatory mutation. Both STX17 and the neighboring NR4A3 gene are overexpressed in melanomas from Gray horses. Gray horses carrying a loss-of-function mutation in ASIP (agouti signaling protein) had a higher incidence of melanoma, implying that increased melanocortin-1 receptor signaling promotes melanoma development in Gra...
Binding of equine infectious anemia virus to the equine lentivirus receptor-1 is mediated by complex discontinuous sequences in the viral envelope gp90 protein.
The Journal of general virology    July 18, 2008   Volume 89, Issue Pt 8 2011-2019 doi: 10.1099/vir.0.83646-0
Sun C, Zhang B, Jin J, Montelaro RC.The identification and characterization of a functional cellular receptor for equine infectious anemia virus (EIAV), designated equine lentivirus receptor-1 (ELR1), a member of the tumour necrosis factor receptor protein family, has been reported previously [Zhang, B. et al. (2005). Proc Natl Acad Sci U S A, 102 , 9918-9923]. The finding of a single receptor for EIAV is distinct from feline, simian and human immunodeficiency viruses, which typically utilize two co-receptors for infection, but is similar to avian and murine oncoviruses, which use single receptors. This study sought to determine...
Amino acid substitutions in the structural or nonstructural proteins of a vaccine strain of equine arteritis virus are associated with its attenuation.
Virology    July 11, 2008   Volume 378, Issue 2 355-362 doi: 10.1016/j.virol.2008.06.003
Zhang J, Go YY, MacLachlan NJ, Meade BJ, Timoney PJ, Balasuriya UB.Comparative sequence analysis of a series of strains of equine arteritis virus (EAV) of defined virulence for horses, ranging from the horse-adapted virulent Bucyrus (VB) strain to a fully attenuated vaccine strain derived from it, identified 13 amino acid substitutions associated with attenuation. These include 4 substitutions in the replicase proteins and 9 in the structural proteins. Using reverse genetic techniques, these amino acid substitutions were introduced into a virulent infectious cDNA clone pEAVrVBS derived from the VB strain of EAV. Inoculation of horses with the recombinant viru...
Substitution of human for horse urine disproves an accusation of doping*.
Journal of forensic sciences    July 10, 2008   Volume 53, Issue 5 1145-1148 doi: 10.1111/j.1556-4029.2008.00797.x
Díaz S, Kienast ME, Villegas-Castagnasso EE, Pena NL, Manganare MM, Posik D, Peral-García P, Giovambattista G.In order to detect switching and/or manipulation of samples, the owner of a stallion asked our lab to perform a DNA test on a positive doping urine sample. The objective was to compare the urine DNA profile versus blood and hair DNA profiles from the same stallion. At first, 10 microsatellite markers were investigated to determine the horse identity. No results were obtained when horse specific markers were typed in the urine sample. In order to confirm the species origin of this sample we analyzed the mitochondrial cytochrome b gene. This analysis from blood and hair samples produced reproduc...
The effect of age and telomere length on immune function in the horse.
Developmental and comparative immunology    July 9, 2008   Volume 32, Issue 12 1409-1415 doi: 10.1016/j.dci.2008.06.007
Katepalli MP, Adams AA, Lear TL, Horohov DW.Telomeres, specialized structures present at the ends of linear eukaryotic chromosomes, function to maintain chromosome stability and integrity. Telomeres shorten with each cell division eventually leading to replicative senescence, a process thought to be associated with age-related decline in immune function. We hypothesized that shortened PBMC telomere length is a factor contributing to immunosenescence of the aged horse. Telomere length was assessed in 19 horses ranging in age from 1 to 25 years. Mitogen-induced 3H-thymidine incorporation, total serum IgG, and pro-inflammatory cytokine exp...