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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.
Congenital hypotrichosis in a Percheron draught horse.
Veterinary dermatology    August 9, 2001   Volume 12, Issue 4 215-217 doi: 10.1046/j.0959-4493.2001.00257.x
Valentine BA, Hedstrom OR, Miller WH, Scott DW, Mathies S.A blue roan Percheron foal was born with poorly circumscribed patchy alopecia of the trunk and legs. Teeth and hoof development were normal. Alopecia was progressive, becoming almost complete by 1 year of age. Histopathological findings in a skin biopsy obtained at 7 months of age were consistent with severe follicular hypoplasia. Sebaceous glands, epitrichial sweat glands and arrector pilae muscles were normal. The horse is alive and otherwise well at 6 years of age, although adult stature is considered small for this breed. The clinical history and histopathological findings are most consist...
Zonal dermal separation: a distinctive histopathological lesion associated with hyperelastosis cutis in a Quarter Horse.
Veterinary dermatology    August 9, 2001   Volume 12, Issue 4 219-224 doi: 10.1046/j.0959-4493.2001.00256.x
Brounts SH, Rashmir-Raven AM, Black SS.This case report describes a distinctive deep cutaneous lesion in a 1-year-old Quarter Horse filly with hyperelastosis cutis. The horse had a typical clinical presentation of hyperelastic skin associated with a 6-month history of cutaneous wounds that developed following minor cutaneous trauma. Punch biopsies of skin from the affected horse were thinner than similar biopsies from an age- and breed-matched control. Significant microscopic lesions were not seen in cutaneous punch biopsies stained with haematoxylin and eosin and Masson's trichrome stains, but the ultrastructure of the dermis from...
Ultrastructural characteristics of nurse cell-larva complex of four species of Trichinella in several hosts.
Parasite (Paris, France)    August 4, 2001   Volume 8, Issue 2 Suppl S54-S58 doi: 10.1051/parasite/200108s2054
Sacchi L, Corona S, Gajadhar AA, Pozio E.The nurse cell-larva complex of nematodes of the genus Trichinella plays an important role in the survival of the larva in decaying muscles, frequently favouring the transmission of the parasite in extreme environmental conditions. The ultrastructure of the nurse cell-larva complex in muscles from different hosts infected with T. nativa (a walrus and a polar bear), T. spiralis (horses and humans), T. pseudospiralis (a laboratory mouse) and T. papuae (a laboratory mouse) were examined. Analysis with transmission electron microscope showed that the typical nurse cell structure was present in all...
Multiplex polymerase chain reaction for distinguishing Taylorella equigenitalis from Taylorella equigenitalis-like organisms. Arata AB, Cooke CL, Jang SS, Hirsh DC.It is difficult to distinguish isolates of Taylorella equigenitalis, the cause of contagious equine metritis, from a T. equigenitalis-like organism isolated from asymptomatic donkeys and horses. Although T. equigenitalis is responsible for a severe, contagious disease of the reproductive tract of equids, the T. equigenitalis-like organism, although contagious, does not appear to produce disease. Because of the economic consequences of correctly distinguishing isolates of these 2 microorganisms, a polymerase chain reaction (PCR)-based assay was developed that will distinguish isolates of T. equ...
Characterization of mutations in the rpoB gene associated with rifampin resistance in Rhodococcus equi isolated from foals.
Journal of clinical microbiology    July 28, 2001   Volume 39, Issue 8 2784-2787 doi: 10.1128/JCM.39.8.2784-2787.2001
Fines M, Pronost S, Maillard K, Taouji S, Leclercq R.Treatment with a combination of erythromycin and rifampin has considerably improved survival rates of foals and immunocompromised patients suffering from severe pneumonia caused by Rhodococcus equi. Frequently, because of monotherapy, emergence of rifampin-resistant strains has been responsible for treatment failure. Using consensus oligonucleotides, we have amplified and sequenced the rifampin resistance (Rif(r))-determining regions of 12 rifampin-resistant R. equi strains isolated from three foals and of mutants selected in vitro from R. equi ATCC 3701, a rifampin-susceptible strain. The ded...
Chromosomal distribution of the telomere sequence (TTAGGG)(n) in the Equidae.
Cytogenetics and cell genetics    July 28, 2001   Volume 93, Issue 1-2 127-130 doi: 10.1159/000056964
Lear TL.Telomeres are a class of repetitive DNA sequences that are located at chromosome termini and that act to stabilize the chromosome ends. The rapid karyotypic evolution of the genus Equus has given rise to ten taxa, all with different diploid chromosome numbers. Using fluorescence in situ hybridization (FISH) we localized the mammalian telomere sequence, (TTAGGG)(n), to the chromosomes of nine equid taxa. TTAGGG signal was located at chromosome termini in all species, however additional signal was seen at interstitial sites on some chromosomes in the Burchell's zebra, Equus quagga burchelli, the...
Evidence for transmission of Halicephalobus deletrix (H gingivalis) from dam to foal.
Journal of veterinary internal medicine    July 27, 2001   Volume 15, Issue 4 412-417 
Wilkins PA, Wacholder S, Nolan TJ, Bolin DC, Hunt P, Bernard W, Acland H, Del Piero F.No abstract available
DNA in human and stallion spermatozoa forms local hexagonal packing with twist and many defects.
Journal of structural biology    July 27, 2001   Volume 134, Issue 1 76-81 doi: 10.1006/jsbi.2001.4365
Sartori Blanc N, Senn A, Leforestier A, Livolant F, Dubochet J.In human and other mammal sperm nuclei, DNA is packed in a highly condensed state, the structure of which remains unsolved. Cryoelectron microscopy of vitrified sections provides a first direct view of the local arrangement of the nucleoprotamine filament. DNA aligns in parallel in layers and its orientation rotates along a single-twist direction as in a cholesteric liquid crystal. The structure contains numerous defects, which introduce locally double-twist configurations. Destruction of the SS bonds with dithiotrehitol relaxes the twist and favors the extension of the hexagonal close packing...
Purification, crystallization and identification by X-ray analysis of a prostate kallikrein from horse seminal plasma.
Acta crystallographica. Section D, Biological crystallography    July 23, 2001   Volume 57, Issue Pt 8 1180-1183 doi: 10.1107/s0907444901009805
Carvalho AL, Dias JM, Sanz L, Romero A, Calvete JJ, Romão MJ.The purification, crystallization and identification by X-ray diffraction analysis of a horse kallikrein is reported. The protein was purified from horse seminal plasma. Crystals belong to space group C2 and the structure was solved by the MIRAS method, with two heavy-atom derivatives of mercury and platinum. X-ray diffraction data to 1.42 A resolution were collected at the ESRF synchrotron-radiation source.
Dynamics of structure and energy of horse carboxymyoglobin after photodissociation of carbon monoxide.
Journal of the American Chemical Society    July 18, 2001   Volume 123, Issue 18 4286-4294 doi: 10.1021/ja9944655
Sakakura M, Yamaguchi S, Hirota N, Terazima M.The energetics and structural volume changes after photodissociation of carboxymyoglobin are quantitatively investigated by laser-induced transient grating (TG) and photoacoustic calorimetric techniques. Various origins of the TG signal are distinguished: the phase grating signals due to temperature change, due to absorption spectrum change, and due to volume change. We found a new kinetics of approximately 700 ns (at room temperature), which was not observed by the flash photolysis technique. This kinetics should be attributed to the intermediate between the geminate pair and the fully dissoc...
[Prevalence of the Salmonella plasmid virulence gene “spvD” in Salmonella strains from animals].
DTW. Deutsche tierarztliche Wochenschrift    July 14, 2001   Volume 108, Issue 6 243-245 
Bauerfeind R, Barth S, Weiss R, Baljer G.Strains of Salmonella isolated from animals in Germany (n = 878) were analysed for the presence of the spvD gene ("Salmonella plasmid virulence gene D") by DNA-DNA hybridization. The spvD gene was only detected in strains of serovars Typhimurium (93.3%), Enteritidis (97.1%), and Dublin (100%) as well as in two rough strains of Salmonella enterica. Salmonella isolates from mammals carried the gene more frequently (cattle 94.0%, horses 92.6%, pigs 73.7%) than those from birds (33.3%) or reptiles (4.5%). Due to its high prevalence in epidemiologically relevant salmonellae, the virulence factor sp...
Neonatal isoerythrolysis involving the Qc and Db antigens in a foal.
Journal of the American Veterinary Medical Association    July 7, 2001   Volume 219, Issue 1 79-50 doi: 10.2460/javma.2001.219.79
MacLeay JM.In 1992, a multiparous 13-year-old Thoroughbred mare and her 48-hour-old colt were examined because of possible neonatal isoerythrolysis (NI). Supportive treatment was administered, and the foal recovered without requiring a transfusion. According to the owners, the mare had delivered foals without incident during 1987 and 1991. The mare was barren during 1993, but in 1994, delivered a filly that developed severe NI. The foal was given 3 transfusions and eventually recovered without complications. Blood typing analysis of the mare and its foals indicated that all 4 foals were positive for the ...
Tumor regression induced by intratumoral injection of DNA coding for human interleukin 12 into melanoma metastases in gray horses.
Journal of molecular medicine (Berlin, Germany)    July 4, 2001   Volume 78, Issue 12 692-702 doi: 10.1007/s001090000165
Heinzerling LM, Feige K, Rieder S, Akens MK, Dummer R, Stranzinger G, Moelling K.Preclinical studies investigating new therapeutic principles against melanoma are presently being carried out in mouse models; however, these are not optimal. Here we describe a novel animal model using gray horses. These animals spontaneously develop metastatic melanoma that resembles human disease and is thus highly relevant for preclinical studies testing new immunotherapy protocols. We found that injection of plasmid DNA coding for the human cytokine interleukin 12 into established metastases induced significant regression in all 12 treated lesions in a total of 7 horses. Complete disappea...
Comparison of the value of pulsed-field gel electrophoresis, random amplified polymorphic DNA and amplified rDNA restriction analysis for subtyping Taylorella equigenitalis.
Veterinary research communications    July 4, 2001   Volume 25, Issue 4 261-269 doi: 10.1023/a:1010674524428
Kagawa S, Moore JE, Murayama O, Matsuda M.Eight strains of Taylorella equigenitalis were identified by a polymerase chain reaction using a primer pair specific to the 16S rDNA of T equigenitalis. These eight strains were chosen because they had previously been shown to represent eight distinct genotypes by pulsed-field gel electrophoresis analysis after separate digestion of the genomic DNA with ApaI or NotI. The eight strains could be classified into six or seven types by random amplified polymorphic DNA analysis using different kinds of primers. Amplified rDNA restriction analysis after separate digestion with five restriction enzym...
Congenital hypothyroidism in foals.
The Canadian veterinary journal = La revue veterinaire canadienne    June 27, 2001   Volume 42, Issue 6 418 
Allen A.No abstract available
Activation of cumulus-free equine oocytes: effect of maturation medium, calcium ionophore concentration and duration of cycloheximide exposure.
Reproduction (Cambridge, England)    June 27, 2001   Volume 122, Issue 1 177-183 
Choi YH, Love CC, Varner DD, Thompson JA, Hinrichs K.Two different culture media (TCM-199 and follicular fluid), two activation treatments (10 and 50 micromol calcium ionophore l(-1)) and three culture periods with cycloheximide were evaluated to find effective culture conditions for activation of cumulus-free equine oocytes. Oocytes were collected by scraping the follicle walls of ovaries obtained from an abattoir. Oocytes with expanded cumuli were matured at 38.2 degrees C in a humidified atmosphere of 5% CO(2) in air, in either TCM-199 with 10% fetal bovine serum (FBS) and 5 microU FSH ml(-1), or in 100% follicular fluid derived from a preovu...
Characterization of equine microsatellite loci, TKY102-TKY112.
Animal genetics    June 26, 2001   Volume 32, Issue 2 117-119 doi: 10.1046/j.1365-2052.2001.0700h.x
Mashima S, Tozaki T, Swinburne J, Kakoi H, Binns M, Miura N.No abstract available
Polymorphism identification within 50 equine gene-specific sequence tagged sites.
Animal genetics    June 26, 2001   Volume 32, Issue 2 78-88 doi: 10.1046/j.1365-2052.2001.00738.x
Shubitowski DM, Venta PJ, Douglass CL, Zhou RX, Ewart SL.The continued discovery of polymorphisms in the equine genome will be important for future studies using genomic screens and fine mapping for the identification of disease genes. Segments of 50 equine genes were examined for variability in 10 different horse breeds using a pool-and-sequence method. We identified 11 single nucleotide polymorphisms (SNPs) in 9380 bp of sequenced exon, and 25 SNPs, six microsatellites, and one insertion/deletion in 16961 bp of sequenced intron. Of all genes studied 52% contained at least one polymorphism, and polymorphisms were found at an overall rate of 1/613 b...
Linked markers exclude KIT as the gene responsible for appaloosa coat colour spotting patterns in horses.
Animal genetics    June 26, 2001   Volume 32, Issue 2 98-101 doi: 10.1046/j.1365-2052.2001.00737.x
Terry RR, Bailey E, Bernoco D, Cothran EG.The appaloosa coat colour pattern of the horse is similar to that caused by the rump-white (Rw) gene in the mouse. In the mouse Rw colour pattern is the result of an inversion involving the proto-oncogene c-kit (KIT). Therefore, we investigated KIT as a candidate gene that encodes the appaloosa coat colour gene (Lp) in horses. KIT plays a critical role in haematopoiesis, gametogenesis, and melanogenesis and encodes a transmembrane tyrosine kinase receptor that belongs to the PDGF/CSF-1/c-KIT receptor subfamily. Half-sib families segregating for Lp were uninformative for a reported polymorphism...
Breed demarcation and potential for breed allocation of horses assessed by microsatellite markers.
Animal genetics    June 26, 2001   Volume 32, Issue 2 59-65 doi: 10.1046/j.1365-2052.2001.00705.x
Bjørnstad G, Røed KH.Population demarcation of eight horse breeds was investigated using genotype information of 306 horses from 26 microsatellite loci. The breeds include the indigenous Norwegian breeds Fjord Horse, Nordland/Lyngen Horse, Døle Horse and Coldblooded Trotter together with Icelandic Horse, Shetland Pony, Standardbred and Thoroughbred. Both phylogenetic analysis and a maximum likelihood method were applied to examine the potential for breed allocation of individual animals. The phylogenetic analysis utilizing simple allele sharing statistics revealed clear demarcation among the breeds; 95% of the in...
Base substitutions in the sequences flanking microsatellite markers HMS3 and ASB2 interfere with parentage testing in the Lipizzan horse.
Animal genetics    June 23, 2001   Volume 32, Issue 1 52 doi: 10.1046/j.1365-2052.2001.0647k.x
Achmann R, Huber T, Wallner B, Dovc P, Müller M, Brem G.No abstract available
Epidermal growth factor regulation of equine glycoprotein hormone alpha subunit expression in trophoblast cells.
Biology of reproduction    June 23, 2001   Volume 65, Issue 1 197-203 doi: 10.1095/biolreprod65.1.197
Thway TM, Wolfe MW.Primates and equids are the only species known to express the placental glycoprotein hormone, chorionic gonadotropin (CG), a heterodimeric glycoprotein composed of an alpha subunit linked to a hormone-specific beta subunit. The regulatory mechanisms involved in the induction of equine glycoprotein alpha subunit gene expression have not been identified. Epidermal growth factor (EGF) receptor is known to transduce signals that alter a number of different cellular functions (cell proliferation, differentiation, hormone secretion, and gene regulation). In the present study, we investigated the reg...
Physical anchorage and orientation of equine linkage groups by FISH mapping BAC clones containing microsatellite markers.
Animal genetics    June 23, 2001   Volume 32, Issue 1 37-39 doi: 10.1046/j.1365-2052.2001.00715.x
Lindgren G, Swinburne JE, Breen M, Mariat D, Sandberg K, Guérin G, Ellegren H, Binns MM.A horse bacterial artificial chromosome (BAC) library was screened for 19 microsatellite markers from unassigned or non-oriented linkage groups. Clones containing 11 (AHT20, EB2E8, HMS45, LEX005, LEX014, LEX023, LEX044, TKY111, UCDEQ425, UCDEQ464 and VIASH21) of these were found, which were from eight different linkage groups. The BAC clones were used as probes in dual colour FISH to identify their precise chromosomal origin. The microsatellite markers are located on nine different horse chromosomes, four of which (ECA6, ECA25, ECA27 and ECA28) had no previously in situ assigned markers.
Morphological characteristics and distribution of the autonomic and sensitive innervation of the prostate in some animal species. Acone F, Botti M, Gazza F, Sanna M, Cappai MG, Bo Minelli L.The sensitive and autonomic innervation of the prostate was studied in some mammals (rat, rabbit, horse, donkey and bull) using gold chloride impregnation. In all the species considered the gland was supplied with conspicuous innervation located in the thickness of the capsule and in trabeculae. The autonomic innervation was constituted by ganglion cells of different sizes (small, medium and large), isolated or in groups of large ganglia also, always located along the course of nerve bundles. The sensitive nervous component, placed more frequently in the most superficial layer of the capsule, ...
Aromatase gene expression in the stallion.
Molecular and cellular endocrinology    June 19, 2001   Volume 178, Issue 1-2 133-139 doi: 10.1016/s0303-7207(01)00435-x
Lemazurier E, Sourdaine P, Nativelle C, Plainfossé B, Séralini G.Adult stallion secretes very high estrogen levels in its testicular vein and semen, and the responsible enzyme cytochrome P450 aromatase (P450 arom) is known to be present mainly in Leydig cells. We studied in further details the distribution of equine aromatase in various adult tissues including the brain (hypothalamic area), liver, kidney, small intestine, muscle, bulbourethral gland and testes. The aromatase mRNA was essentially detected by RT-PCR in testis (169+/-14 amol of aromatase mRNA per microg of total RNA) and was barely detectable in brain, or below 0.1 amol/microg RNA in other tis...
Developmental anomalies and abnormalities of the equine iris.
Veterinary ophthalmology    June 9, 2001   Volume 3, Issue 2-3 93-98 doi: 10.1046/j.1463-5224.2000.00113.x
Crispin SM.The iris is derived from interaction between neural crest tissue and the adjacent neuroectoderm of the optic cup. Developmental anomalies of the equine iris are common, and include congenital miosis, iris cysts, various manifestations of iris hypoplasia, heterochromia, and persistent pupillary membrane remnants. They may be found alone or in combination with other ocular defects.
p53 protein expression in conjunctival squamous cell carcinomas of domestic animals.
Veterinary ophthalmology    June 9, 2001   Volume 2, Issue 4 227-231 doi: 10.1046/j.1463-5224.1999.00086.x
Sironi G, Riccaboni P, Mertel L, Cammarata G, Brooks DE.The expression of p53 protein was investigated in eight formalin-fixed, paraffin-embedded conjunctival squamous cell carcinomas of five horses and one cow, dog and cat each by an immunohistochemical procedure in order to evaluate protein overexpression. Anti-human p53 protein mouse monoclonal antibodies known to be cross-reactive with p53 protein of the animal species examined were used. Positive p53 nuclear immunostaining was detected in five equine, one bovine and one feline cases. Conversely, no p53 immunostaining was found in the only canine case examined. These results demonstrate a frequ...
Functional and computer modelling studies of haemoglobin from horse. The haemoglobin system of the Sardinian wild dwarf horse.
European journal of biochemistry    June 8, 2001   Volume 268, Issue 11 3313-3320 doi: 10.1046/j.1432-1327.2001.02235.x
Pellegrini M, Corda M, Manca L, Olianas A, Sanna MT, Fais A, De Rosa MC, Bertonati C, Masala B, Giardina B.A study was made of the haemoglobin (Hb) system from the Sardinian dwarf horse (Equus caballus jara), one of the last surviving wild horse species in Europe. The oxygen binding properties of the whole haemolysate and of the four different horse Hbs, separated by ion-exchange chromatography, were studied with special regard to the effect of chloride, 2,3-diphosphoglycerate and lactate. Results indicate that no significant functional differences exist between the four Hb components of horse haemolysate. Moreover, the molecular basis of the intrinsically low oxygen affinity and of the weak intera...
Characterization of expressed sequence tags generated from skin cDNA clones of Equus caballus by single pass sequencing.
Animal biotechnology    May 24, 2001   Volume 12, Issue 1 87-97 doi: 10.1081/ABIO-100102981
Lieto LD, Cothran EG.A cDNA library was built using RNA extracted from the skin tissue of an adult horse. The library was primed with oligo (dT) and sequences were directionally inserted in order to produce an expression library. The library has 5.8X 10(5) plaque forming units with 99.6% recombinant phage. The average insert size is 1.3 Kbp. Three hundred and thirteen expressed sequence tags (ESTs) were generated from sequencing of the 5 prime end of randomly selected skin cDNA clones. The ESTs were sequenced on an ABI 377 using Big-Dye chemistry. A similarity search was performed on each EST using the NCBI non-re...
Uterocalin, a lipocalin provisioning the preattachment equine conceptus: fatty acid and retinol binding properties, and structural characterization.
The Biochemical journal    May 23, 2001   Volume 356, Issue Pt 2 369-376 doi: 10.1042/0264-6021:3560369
Suire S, Stewart F, Beauchamp J, Kennedy MW.The equine conceptus is surrounded by a fibrous capsule that persists until about day 20 of pregnancy, whereupon the capsule is lost, the conceptus attaches to the endometrium and placentation proceeds. Before attachment, the endometrium secretes in abundance a protein of the lipocalin family, uterocalin. The cessation of secretion coincides with the end of the period during which the conceptus is enclosed in its capsule, suggesting that uterocalin is essential for the support of the embryo before direct contact between maternal and foetal tissues is established. Using recombinant protein and ...