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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.
Expression of platelet-derived growth factor-beta receptor and bovine papillomavirus E5 and E7 oncoproteins in equine sarcoid.
Journal of comparative pathology    September 23, 2008   Volume 139, Issue 4 231-237 doi: 10.1016/j.jcpa.2008.07.006
Equine sarcoids are benign fibroblastic skin tumours that are recognized throughout the world. Infection with bovine papillomavirus (BPV) types 1 and 2 has been implicated as a major factor in disease development; however, the cellular mechanisms underlying fibroblast transformation remain poorly defined. The present study further characterizes aspects of the association with BPV in 15 equine sarcoids. BPV DNA was demonstrated in 12/15 tumours collected from different areas of Italy. Nine of these 12 tumours expressed the BPV oncoproteins E5 and E7, but these oncoproteins were not expressed by...
Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses.
PLoS genetics    September 19, 2008   Volume 4, Issue 9 e1000195 doi: 10.1371/journal.pgen.1000195
Cook D, Brooks S, Bellone R, Bailey E.Champagne coat color in horses is controlled by a single, autosomal-dominant gene (CH). The phenotype produced by this gene is valued by many horse breeders, but can be difficult to distinguish from the effect produced by the Cream coat color dilution gene (CR). Three sires and their families segregating for CH were tested by genome scanning with microsatellite markers. The CH gene was mapped within a 6 cM region on horse chromosome 14 (LOD = 11.74 for theta = 0.00). Four candidate genes were identified within the region, namely SPARC [Secreted protein, acidic, cysteine-rich (osteonectin)], SL...
Heritability and repeatability of insect bite hypersensitivity in Dutch Shetland breeding mares.
Journal of animal science    September 12, 2008   Volume 87, Issue 2 484-490 doi: 10.2527/jas.2008-1129
Schurink A, van Grevenhof EM, Ducro BJ, van Arendonk JA.Insect bite hypersensitivity (IBH) is a seasonal recurrent allergic reaction of horses to the bites of certain Culicoides spp. and is found throughout the world. The aim of our study was to estimate the heritability and repeatability of IBH in the Dutch Shetland pony population. A total of 7,924 IBH scores on 6,073 mares were collected during foal inspections in 2003, 2005, and 2006. Mares were scored for clinical symptoms of IBH from June until February by 16 inspectors. Of all mares, 74.4% (n = 4,520) had a single observation, 20.7% (n = 1,255) had 2 observations, and 4.9% (n = 298) had 3 ob...
Sensitive and specific detection of Cryptosporidium species in PCR-negative samples by loop-mediated isothermal DNA amplification and confirmation of generated LAMP products by sequencing.
Veterinary parasitology    September 11, 2008   Volume 158, Issue 1-2 11-22 doi: 10.1016/j.vetpar.2008.09.012
Bakheit MA, Torra D, Palomino LA, Thekisoe OM, Mbati PA, Ongerth J, Karanis P.Three LAMP (loop-mediated isothermal DNA amplification) assays were applied to detect Cryptosporidium species DNA in a total number of 270 fecal samples originating from cattle, sheep and horses in South Africa. DNA was extracted from 0.5 g of fecal material. Results of LAMP detection were compared to those obtained by nested PCR targeting the Cryptosporidium 18 small subunit rRNA (18S) gene. All samples were negative by nested PCR, while up to one-third of samples were positive by LAMP assays. The SAM-1 LAMP assay, shown to detect C. parvum, C. hominis and C. meleagridis, amplified Cryptospor...
Immunohistochemical localization of oestrogen receptors alpha and beta, progesterone receptor and aromatase in the equine placenta.
Reproduction in domestic animals = Zuchthygiene    September 10, 2008   Volume 44, Issue 2 312-319 doi: 10.1111/j.1439-0531.2008.01073.x
Abd-Elnaeim MM, Derar IR, Wilsher S, Allen WR, Leiser R, Schuler G.The functions of placental oestrogens during equine pregnancy are still unclear. Yet, they may act predominantly as local regulators of growth and differentiation in the microplacentomes. Thus, expression patterns of oestrogen receptors (ERs) alpha and beta were investigated in the microcotyledonary placenta from pregnant mares at 110, 121, 179, 199 and 309 days of gestation by immunohistochemistry. In microplacentomes, both the ER isoforms were detected in trophoblast (T) cells, chorionic villous stroma (FS), microcaruncular epithelium (ME) and microcaruncular stroma (MS). Proportions of posi...
Bronchopneumonia associated with extraintestinal pathogenic Escherichia coli in a horse. DebRoy C, Roberts E, Jayarao BM, Brooks JW.Extraintestinal pathogenic Escherichia coli (ExPEC) strains carrying distinct virulence attributes are known to cause diseases in humans and animals and infect organs other than the gastrointestinal tract. A fatal case of bronchopneumonia in a 12-year-old female Quarterhorse was investigated. Following postmortem examination, E. coli, Enterococcus sp., and Klebsiella pneumonia were isolated from the lungs, which contained multifocal intra-alveolar accumulations of neutrophils and macrophages with edema, hemorrhage, and fibrin. The strain of E. coli belonged to O2H21 and carried virulence genes...
Rapid and sensitive detection of African horse sickness virus by real-time PCR.
Research in veterinary science    September 7, 2008   Volume 86, Issue 2 353-358 doi: 10.1016/j.rvsc.2008.07.015
Fernández-Pinero J, Fernández-Pacheco P, Rodríguez B, Sotelo E, Robles A, Arias M, Sánchez-Vizcaíno JM.A highly sensitive and specific TaqMan-MGB real-time RT-PCR assay has been developed and standardised for the detection of African horse sickness virus (AHSV). Primers and MGB probe specific for AHSV were selected within a highly conserved region of genome segment 7. The robustness and general application of the diagnostic method were verified by the detection of 12 AHSV isolates from all of the nine serotypes. The analytical sensitivity ranged from 0.001 to 0.15 TCID(50) per reaction, depending on the viral serotype. Real-time PCR performance was preliminarily assessed by analysing a panel of...
Treatment with human chorionic gonadotropin (hCG) for ovulation induction is associated with an immediate 17beta-estradiol decrease and a more rapid LH increase in mares.
Animal reproduction science    September 3, 2008   Volume 114, Issue 1-3 311-317 doi: 10.1016/j.anireprosci.2008.08.026
Ginther OJ, Beg MA, Gastal EL, Gastal MO, Cooper DA.The effect of treatment with an ovulation-inducing dose of human chorionic gonadotropin (hCG) on 17beta-estradiol (estradiol) and LH concentrations was studied in mares. In Experiment 1, treatment with hCG resulted in ovulation in approximately 48 h. The LH surge centralized to ovulation and the preovulatory decline in estradiol were not different between hCG-treated (n=15) and control (n=13) groups. In Experiment 2, concentrations of hCG decreased 92% between 1 and 48 h after hCG treatment, estradiol decreased (P<0.003) within 6h, and LH increased at a greater (P<0.02) rate after 12h (n...
[Molecular diagnostic of congenital babesiosis in neonates foals from State of Rio de Janeiro, Brazil]. Santos TM, Santos HA, Massard CL.The aim of this study was to demonstrate, through nested PCR (nPCR) method, the occurrence of congenital babesiosis in two foals born of carrier mares. All mares were positive for T. equi based in visualization of intraerytrocytic parasites in blood smears, in indirect fluorescent antibody test (IFAT) and nPCR reactions. Just one mare was nPCR-positive for B. caballi. After the birth, all foals presented nPCR-positive for T. equi, while just one foal presented nPCR-positive for B. caballi. The present study prove the occurrence of congenital babesiosis in new-born foals, however, new studies a...
The horse genome.
Genome dynamics    August 30, 2008   Volume 2 97-110 doi: 10.1159/000095098
Chowdhary BP, Raudsepp T.Despite a late start, analysis of the horse genome has progressed rapidly during the past ten years. With synteny, genetic linkage, radiation hybrid, cytogenetic and comparative maps presently generated for all equine chromosomes including the Y chromosome, the map of the equine genome contains approximately 4,000 markers. The average resolution of the mapped markers is approximately 700 kb, which makes the horse gene map the densest among the domestic animal species hitherto not sequenced. This map is currently used by researchers worldwide to discover genes associated with various traits of ...
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.