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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.
Equine sperm-oocyte interaction: the role of sperm surface hyaluronidase.
Animal reproduction science    December 18, 2001   Volume 68, Issue 3-4 291-303 doi: 10.1016/s0378-4320(01)00166-x
Meyers SA.The plasma membrane over the sperm head of several mammalian species has been shown to express a glycerolphosphatidylinositol-linked hyaluronidase known as PH-20. This protein has been associated with the sperm's interaction with the oocyte cumulus matrix and zona pellucida. The characteristics of PH-20 in equine sperm have not been clearly defined. In this study, ejaculated gel-free semen from five stallions and epididymal sperm from isolated epididymis from 10 stallions was used to characterize the PH-20 activity in equine sperm. Affinity purified anti-equine PH-20 polyclonal antibody was us...
Endocrine and paracrine control of sperm production in stallions.
Animal reproduction science    December 18, 2001   Volume 68, Issue 3-4 139-151 doi: 10.1016/s0378-4320(01)00151-8
Roser JF.The specific nature and relative contribution of the major hormones involved in regulation of reproductive function of the stallion are not well defined nor have paracrine or autocrine factors been identified. Over the last 12 years, our laboratory has been engaged in characterizing the hypothalamic-pituitary-testicular axis (HPT) in stallions. A number of endocrine factors and mechanisms important for normal reproductive function have been investigated. Studies investigating poor fertility in stallions suggest that a closer look at the testicular level is warranted. For a complete understandi...
Assessment of sperm quality: a flow cytometric approach.
Animal reproduction science    December 18, 2001   Volume 68, Issue 3-4 239-247 doi: 10.1016/s0378-4320(01)00160-9
Graham JK.For many years, scientists have sought to develop laboratory assays that accurately predict the fertilizing capacity of a semen sample. This goal, however, has proven elusive and will most likely be very difficult to achieve, due to the complex nature of the problem. Part of the problem results from the many attributes that a spermatozoon must possess to fertilize an egg, and how laboratory assays can evaluate all of these attributes simultaneously. The percentage of motile sperm in a sample is most commonly used to evaluate semen quality. This assay, however, is not highly correlated with the...
The cream dilution gene, responsible for the palomino and buckskin coat colours, maps to horse chromosome 21.
Animal genetics    December 12, 2001   Volume 32, Issue 6 340-343 doi: 10.1046/j.1365-2052.2001.00806.x
Locke MM, Ruth LS, Millon LV, Penedo MC, Murray JD, Bowling AT.The colour locus historically referred to as C in the horse is linked to microsatellites markers on horse chromosome 21. Preliminary results demonstrated linkage of Ccr, thought to be the cream dilution variant of the C locus, to HTG10. An analysis of horse chromosome 21 using additional families confirmed and established a group of markers linked to Ccr. This work also improved the resolution of previously reported linkage maps for this chromosome. Linkage analysis unambiguously produced the map order: SGCV16-(19.1 cM)-HTG10-(3.8 cM)-LEX60/COR73-(1.3 cM)-COR68-(4.5 cM)- Ccr-(11.9 cM)-LEX31. C...
The fibrinogen-binding protein (FgBP) of Streptococcus equi subsp. equi additionally binds IgG and contributes to virulence in a mouse model.
Microbiology (Reading, England)    December 12, 2001   Volume 147, Issue Pt 12 3311-3322 doi: 10.1099/00221287-147-12-3311
Meehan M, Lynagh Y, Woods C, Owen P.The major cell-wall-associated protein of the equine pathogen Streptococcus equi subsp. equi is an M-like fibrinogen-binding protein (FgBP) which binds equine fibrinogen (Fg) avidly, through residues located at the extreme N-terminus of the molecule. In this study, it is shown that FgBP additionally binds equine IgG-Fc. When tested against polyclonal IgG from ten other animal species, it was found that FgBP binds human, rabbit, pig and cat IgG, but does not bind mouse, rat, goat, sheep, cow or chicken IgG. Through the use of a panel of recombinant FgBP truncates containing defined deletions of...
Microsatellite diversity, pedigree relatedness and the contributions of founder lineages to thoroughbred horses.
Animal genetics    December 12, 2001   Volume 32, Issue 6 360-364 doi: 10.1046/j.1365-2052.2001.00785.x
Cunningham EP, Dooley JJ, Splan RK, Bradley DG.The thoroughbred (TB) horse is one of the oldest breeds of domestic animals, with pedigree records spanning three centuries. Because the population is essentially closed, there is concern about loss of genetic variation. Here we report two parallel analyses. In the first, genetic variation in the current population is measured using data from 13 microsatellite loci in 211 horses with relationships calculated based on allele sharing. In the second analysis, pedigree information is used to calculate genetic relationships between animals based on shared ancestry. These two measures of relationshi...
Point mutation of neu oncogene in animal peripheral nerve sheath tumors.
Veterinary pathology    December 6, 2001   Volume 38, Issue 6 679-688 doi: 10.1354/vp.38-6-679
Stoica G, Tasca SI, Kim HT.Thirty-four peripheral nerve sheath tumors of four domesticated animal species were characterized and assayed for point mutation of the neu oncogene. Based on their morphoimmunophenotype, 32 tumors were classified as schwannomas. Schwannoma morphology was characterized by the presence of Antoni type A and B pattern and immunoreactivity for S-100 protein and vimentin. Two anaplastic and metastatic tumors originating from spinal cord root, immunonegative for S-100 protein and positive for vimentin, were classified as malignant peripheral nerve sheath tumors (MPNSTs). Four malignant schwannomas a...
Pregnancy-associated plasma protein-A (PAPP-A) in ovine, bovine, porcine, and equine ovarian follicles: involvement in IGF binding protein-4 proteolytic degradation and mRNA expression during follicular development.
Endocrinology    November 20, 2001   Volume 142, Issue 12 5243-5253 doi: 10.1210/endo.142.12.8517
Mazerbourg S, Overgaard MT, Oxvig C, Christiansen M, Conover CA, Laurendeau I, Vidaud M, Tosser-Klopp G, Zapf J, Monget P.IGF binding protein-4 (IGFBP-4) proteolytic degradation is a common feature of preovulatory follicles from human, ovine, bovine, porcine, and equine ovary. In all these species, the protease is a zinc-dependent metalloprotease and its ability to degrade IGFBP-4 is IGF dependent. The human intrafollicular IGFBP-4-degrading protease has recently been identified as pregnancy-associated plasma protein-A (PAPP-A). The aim of this study was to investigate whether PAPP-A is also involved in IGFBP-4 degradation in ovine, bovine, porcine, and equine preovulatory follicles and to study the expression of...
Molecular and functional characterization of genes encoding horse MHC class I antigens.
Immunogenetics    November 17, 2001   Volume 53, Issue 9 802-809 doi: 10.1007/s00251-001-0384-x
Carpenter S, Baker JM, Bacon SJ, Hopman T, Maher J, Ellis SA, Antczak DF.Sequence and functional analyses were undertaken on two cDNAs and a genomic clone encoding horse major histocompatibility complex (MHC) class I molecules. All of the clones were isolated from a single horse that is homozygous for all known horse MHC class I and class II antigens. The two cDNAs (clones 8-9 and 1-29) were isolated from a lymphocyte library and encode polymorphic MHC antigens from two loci. The genomic cosmid clone, isolated from a sperm library, contains the 8-9 gene. All three genes were expressed in mouse L-cells and were recognized by alloantisera and, for the cDNAs, by allor...
In vivo imaging of physiological angiogenesis from immature to preovulatory ovarian follicles.
The American journal of pathology    November 7, 2001   Volume 159, Issue 5 1661-1670 doi: 10.1016/S0002-9440(10)63013-1
Vollmar B, Laschke MW, Rohan R, Koenig J, Menger MD.To develop a model for the study of physiological angiogenesis, we transplanted ovarian follicles onto striated muscle tissue and analyzed the process of microvascularization in vivo using repeated fluorescence microscopy. Follicles were mechanically isolated from unstimulated as well as pregnant mare's serum gonadotropin (PMSG)- or PMSG/luteinizing hormone (LH)-stimulated Syrian golden hamster ovaries and were transplanted as free grafts into dorsal skinfold chambers of untreated or synchronized hamsters. Follicles lacking thecal cell layers did not vascularize regardless whether harvested fr...
The application of three-dimensional internal structure microscopy in the observation of mare ovary.
Anatomia, histologia, embryologia    November 2, 2001   Volume 30, Issue 5 309-312 doi: 10.1046/j.1439-0264.2001.00335.x
Kimur J, Tsukise A, Yokota H, Nambo Y, Higuchi T.The ovary of the mare has a unique structure which differs totally from that of other mammals. However, because of its relatively large size, conventional histological techniques were unsuitable for the observation of the internal structure of the whole ovary. Three-dimensional internal structure microscopy (3D-ISM) consists of a cryotome-CCD camera-laser disc recorder-PC-based control system coupled with a graphic workstation. The internal structure of the ovary is observed by processing over more than 1,000 stored images of serially sliced surfaces of each frozen equine ovary. The 3D reconst...
FISH assignment of two equine BAC clones containing SRY and ZFY.
Animal genetics    October 31, 2001   Volume 32, Issue 5 326-327 doi: 10.1046/j.1365-2052.2001.0730h.x
Hirota K, Piumi F, Sato F, Ishida N, Guérin G, Miura N, Hasegawa T.No abstract available
Immune reconstitution prevents continuous equine infectious anemia virus replication in an Arabian foal with severe combined immunodeficiency: lessons for control of lentiviruses.
Clinical immunology (Orlando, Fla.)    October 31, 2001   Volume 101, Issue 2 237-247 doi: 10.1006/clim.2001.5109
Mealey RH, Fraser DG, Oaks JL, Cantor GH, McGuire TC.Acute infection with equine infectious anemia virus (EIAV), a lentivirus of horses, results in a persistent high-level viremia in Arabian foals affected with severe combined immunodeficiency (SCID). This observation argues against the idea that the transient nature of acute lentiviral viremia is solely a function of viral population dynamics. To extend these studies, EIAV-specific immune reconstitution was attempted prior to EIAV challenge in two SCID foals, using adoptively transferred virus-stimulated lymphocytes derived from persistently EIAV-infected half sibling donors. Following transfer...
Genetic variation of the second exon of ELA-DRB genes in Argentine Creole horses.
Animal genetics    October 31, 2001   Volume 32, Issue 5 257-263 doi: 10.1046/j.1365-2052.2001.00779.x
Díaz S, Giovambattista G, Dulout FN, Peral-García P.Genetic variation in the equine leucocyte antigen-DRB (ELA-DRB) second exon was investigated using polymerase chain reaction (PCR) amplification, restriction fragment length polymorphism (RFLP) of PCR products (PCR-RFLP) and deoxyribonucleic acid (DNA) sequencing. Eight distinct PCR-RFLP patterns could be identified in the studied Argentine Creole (AC) horses. The number of observed patterns per individual ranged from four to six, thus confirming the presence of multiple DRB copies in AC horses. Three PCR-RFLP alleles and three new sequences were identified. The estimated rates of synonymous a...
Growth dynamics of lipizzan horses and their comparison to other horse breeds.
Pflugers Archiv : European journal of physiology    October 27, 2001   Volume 442, Issue 6 Suppl 1 R211-R212 doi: 10.1007/s004240100029
Lovsin E, Fazarinc G, Pogacnik A, Bavdek SV.A typical body format of Slovenian Lipizzan horse was investigated. The study included 6 foals (5 colts and 1 filly) at the Lipica stud farm. They were measured from birth to twenty-seven months and again at forty-four months of age. Measurements included body length, chest circumference, withers height and body mass. All those measurements were statistically evaluated and compared to some other horse breeds to determine the similarity of the growth dynamics of those horse breeds. It was concluded that the parameters of the head and neck reached their full growth at the age of 27 months and al...
Posttranslational processing of PH-20 during epididymal sperm maturation in the horse.
Biology of reproduction    October 24, 2001   Volume 65, Issue 5 1324-1331 doi: 10.1095/biolreprod65.5.1324
Rutllant J, Meyers SA.It is generally accepted that spermatozoa become functionally mature during epididymal transit. The objective of this study was to determine whether the cellular location of equine PH-20 is modified during epididymal transit and, if so, the mechanism for such modification. Sperm were isolated from caput and cauda epididymal regions from stallions undergoing castration (n = 7) and used as whole sperm cell or subjected to nitrogen cavitation for isolation of plasma membrane proteins. Both caput and cauda sperm and sperm protein extracts were subjected to N-deglycosylation, O-deglycosylation, or ...
Effect of homologous preovulatory follicular fluid on in vitro maturation of equine cumulus-oocyte complexes.
Theriogenology    October 23, 2001   Volume 56, Issue 5 745-758 doi: 10.1016/s0093-691x(01)00604-5
Aguilar JJ, Woods GL, Miragaya MH, Olsen LM, Vanderwall DK.The objective of this study was to test the hypothesis that incubating equine cumulus-oocyte complexes (COCs) in medium containing 50% or 100% homologous preovulatory follicular fluid would improve cumulus expansion and nuclear maturation. Oocytes were incubated in one of three media: 1) supplemented TCM-199 (control), 2) 50% (v/v) follicular fluid in control medium or 3) 100% follicular fluid. Cumulus expansion was evaluated subjectively, and nuclear maturation was evaluated by staining oocytes with Hoechst 33258. The hypothesis that incubating COCs in medium containing follicular fluid would...
Biochemical markers of bone metabolism in growing thoroughbreds: a longitudinal study.
Research in veterinary science    October 23, 2001   Volume 71, Issue 1 37-44 doi: 10.1053/rvsc.2001.0482
Price JS, Jackson BF, Gray JA, Harris PA, Wright IM, Pfeiffer DU, Robins SP, Eastell R, Ricketts SW.This study describes longitudinal changes in serum levels of biochemical markers of bone cell activity in a group of 24 thoroughbred foals from birth to 18 months of age. The markers of bone formation included the type I collagen carboxy-terminal propeptide (PICP), the bone-specific isoenzyme of alkaline phosphatase (BAP), and osteocalcin (OC). Levels of the cross-linked telopeptide of type I collagen (ICTP), a marker of bone resorption, and the N-terminal propeptide of type III collagen (PNIIIP), a marker of soft tissue turnover, were also measured. Levels of all markers fell significantly be...
Construction of chimeric arteriviruses reveals that the ectodomain of the major glycoprotein is not the main determinant of equine arteritis virus tropism in cell culture.
Virology    October 17, 2001   Volume 288, Issue 2 283-294 doi: 10.1006/viro.2001.1074
Dobbe JC, van der Meer Y, Spaan WJ, Snijder EJ.The recent development of arterivirus full-length cDNA clones makes possible the construction of chimeric arteriviruses for fundamental and applied studies. Using an equine arteritis virus (EAV) infectious cDNA clone, we have engineered chimeras in which the ectodomains of the two major envelope proteins, the glycoprotein GP(5) and the membrane protein M, were replaced by sequences from envelope proteins of related and unrelated RNA viruses. Using immunofluorescence microscopy, we monitored the transport of the hybrid GP(5) and M proteins to the Golgi complex, which depends on their heterodime...
Identification of equine herpesviruses 1 and 4 by polymerase chain reaction.
Australian veterinary journal    October 16, 2001   Volume 79, Issue 8 563-569 doi: 10.1111/j.1751-0813.2001.tb10751.x
Varrasso A, Dynon K, Ficorilli N, Hartley CA, Studdert MJ, Drummer HE.To develop and validate specific, sensitive and rapid (< 8 hour) diagnostic tests using polymerase chain reaction (PCR) for the diagnosis of abortion and respiratory disease caused by equine herpesvirus 1 (EHV1; equine abortion virus) and EHV4 (equine rhinopneumonitis virus). Methods: Primer sets based on nucleotide sequences encoding glycoprotein H (gH) of EHV1 and gB of EHV4 were designed and used in single round and second round (seminested) PCRs, and in a multiplex PCR for the diagnosis of EHV1 and EHV4 infections. Methods: Oligonucleotide primers were designed for each virus, PCR condi...
“Equine basal cell tumors: 6 cases (1985-1999)”.
Journal of veterinary internal medicine    October 13, 2001   Volume 15, Issue 5 425 doi: 10.1892/0891-6640(2001)15<425:c>2.0.co;2
Madewell BR, Gandour-Edwards R, Theon AP.No abstract available
Calcium sensitivity of force production and myofibrillar ATPase activity in muscles from Thoroughbreds with recurrent exertional rhabdomyolysis.
American journal of veterinary research    October 11, 2001   Volume 62, Issue 10 1647-1652 doi: 10.2460/ajvr.2001.62.1647
Mlekoday JA, Mickelson JR, Valberg SJ, Horton JH, Gallant EM, Thompson LV.To determine whether the basis for recurrent exertional rhabdomyolysis (RER) in Thoroughbreds lies in an alteration in the activation and regulation of the myofibrillar contractile apparatus by ionized calcium. Methods: 4 Thoroughbred mares with RER and 4 clinically normal (control) Thoroughbreds. Methods: Single chemically-skinned type-I (slow-twitch) and type-II (fast-twitch) muscle fibers were obtained from punch biopsy specimens, mounted to a force transducer, and the tensions that developed in response to a series of calcium concentrations were measured. In addition, myofibril preparation...
Nucleotide sequence and restriction fragment length polymorphisms of the equine Cvarepsilon gene.
Veterinary immunology and immunopathology    October 6, 2001   Volume 82, Issue 3-4 193-202 doi: 10.1016/s0165-2427(01)00355-5
Wagner B, Siebenkotten G, Radbruch A, Leibold W.IgE is the dominant immunoglobulin isotype involved in type I hypersensitivities in mammals. The heavy chain constant region domains of equine IgE are encoded by a single gene, the Cvarepsilon gene. By restriction analysis of cDNA from 15 unrelated horses, we have now identified two Cvarepsilon alleles, characterised by a Sma I restriction fragment length polymorphism, which we designated Cvarepsilon(a) and Cvarepsilon(b). Sequence analysis of both, Cvarepsilon(a) and Cvarepsilon(b) cDNA, showed in addition two single base exchanges resulting in two amino acid substitutions. Both sequences hav...
Detection of North American West Nile virus in animal tissue by a reverse transcription-nested polymerase chain reaction assay.
Emerging infectious diseases    October 5, 2001   Volume 7, Issue 4 739-741 doi: 10.3201/eid0704.010425
Johnson DJ, Ostlund EN, Pedersen DD, Schmitt BJ.A traditional single-stage reverse transcription-polymerase chain reaction (RT-PCR) procedure is effective in determining West Nile (WN) virus in avian tissue and infected cell cultures. However, the procedure lacks the sensitivity to detect WN virus in equine tissue. We describe an RT-nested PCR (RT-nPCR) procedure that identifies the North American strain of WN virus directly in equine and avian tissues.
Sequence conservation and antigenic variation of the structural proteins of equine rhinitis A virus.
Journal of virology    October 3, 2001   Volume 75, Issue 21 10550-10556 doi: 10.1128/JVI.75.21.10550-10556.2001
Varrasso A, Drummer HE, Huang JA, Stevenson RA, Ficorilli N, Studdert MJ, Hartley CA.The nucleotide and deduced amino acid sequences of the P1 region of the genomes of 10 independent equine rhinitis A virus (ERAV) isolates were determined and found to be very closely related. A panel of seven monoclonal antibodies to the prototype virus ERAV.393/76 that bound to nonneutralization epitopes conserved among all 10 isolates was raised. In serum neutralization assays, rabbit polyclonal sera and sera from naturally and experimentally infected horses reacted in a consistent and discriminating manner with the 10 isolates, which indicated the existence of variation in the neutralizatio...
Mapping the sequences that mediate interaction of the equine herpesvirus 1 immediate-early protein and human TFIIB.
Journal of virology    October 3, 2001   Volume 75, Issue 21 10219-10230 doi: 10.1128/JVI.75.21.10219-10230.2001
Jang HK, Albrecht RA, Buczynski KA, Kim SK, Derbigny WA, O'Callaghan DJ.The sole immediate-early (IE) gene of equine herpesvirus 1 encodes a 1,487-amino-acid (aa) regulatory phosphoprotein that independently activates expression of early viral genes. Coimmunoprecipitation assays demonstrated that the IE protein physically interacts with the general transcription factor TFIIB. Using a variety of protein-binding assays that employed a panel of IE truncation and deletion mutants expressed as in vitro-synthesized or glutathione S-transferase fusion proteins, we mapped a TFIIB-binding domain to aa 407 to 757 of the IE protein. IE mutants carrying internal deletions of ...
Influence of epidermal growth factor on mammalian oocyte maturation via tyrosine-kinase pathway.
Journal of physiology and biochemistry    October 3, 2001   Volume 57, Issue 2 15-22 
Lorenzo PL, Liu IK, Illera JC, Picazo RA, Carneiro GF, Illera MJ, Conley AJ, Enders AC, Illera M.Epidermal growth factor (EGF) has been reported to promote different functions in mammalian ovaries, including oocyte maturation. The aim of the present study was to establish: that EGF influences oocyte maturation in ovine and equine, that a tyrosine kinase-dependent intracellular mechanism mediates EGF effect and, that EGF-R receptor is detectable in ovarian follicles by immunohistochemistry methods. Selected ovine and equine oocytes were aspirated from 2-5 mm (ovine) or 25 mm (equine) follicles and cultured in TCM 199 for 22 (ovine) or 36 hours (equine). They are then subjected to culture w...
Immortalization of equine trophoblast cell lines of chorionic girdle cell lineage by simian virus-40 large T antigen.
The Journal of endocrinology    September 27, 2001   Volume 171, Issue 1 45-55 doi: 10.1677/joe.0.1710045
Thway TM, Clay CM, Maher JK, Reed DK, McDowell KJ, Antczak DF, Eckert RL, Nilson JH, Wolfe MW.Immortalized cell lines have many potential experimental applications including the analysis of molecular mechanisms underlying cell-specific gene expression. We have utilized a recombinant retrovirus encoding the simian virus-40 (SV-40) large T antigen to construct several immortalized cell lines of equine chorionic girdle cell lineage - the progenitor cells that differentiate into the equine chorionic gonadotropin (eCG) producing endometrial cups. Morphologically, the immortalized cell lines appear similar to normal chorionic girdle cells. Derivation of the immortalized cell lines from a cho...
Hypertrophic pulmonary osteopathy associated with granular cell tumour in a mare.
The Veterinary record    September 26, 2001   Volume 149, Issue 10 307-308 doi: 10.1136/vr.149.10.307
Heinola T, Heikkilä M, Ruohoniemi M, Sukura A.No abstract available
Genetic variation in the feral horses of the Namib Desert, Namibia.
Journal of the South African Veterinary Association    September 21, 2001   Volume 72, Issue 1 18-22 doi: 10.4102/jsava.v72i1.603
Cothran EG, van Dyk E, van der Merwe FJ.Genetic variation at 7 blood-group and 10 biochemical genetic loci was examined in 30 horses from a feral herd from the Namib Desert of Namibia, Africa. The observed genetic variability was extremely low compared with that found in domestic horse breeds. The low variation was most probably a result of recent small population size and a small founding population size. Genetic comparison of the Namib horses, which were of unknown origins, to domestic horse breeds, showed that the Namib horses had the highest genetic similarity to Arabian type horses, although they did not closely resemble this t...