Inheritance patterns in horses refer to the genetic transmission of traits from parent horses to their offspring. These patterns determine how specific characteristics, such as coat color, height, and susceptibility to certain diseases, are passed down through generations. Inheritance in horses follows Mendelian principles, which include dominant and recessive alleles, as well as more complex genetic interactions like incomplete dominance and polygenic traits. Understanding these patterns is essential for breeders aiming to predict the likelihood of particular traits appearing in foals. This page compiles peer-reviewed research studies and scholarly articles that explore the genetic mechanisms, hereditary traits, and implications of inheritance patterns in equine breeding and health.
Mammalian centromeres are associated with highly repetitive DNA (satellite DNA), which has so far hindered molecular analysis of this chromatin domain. Centromeres are epigenetically specified, and binding of the CENPA protein is their main determinant. In previous work, we described the first example of a natural satellite-free centromere on Chromosome 11. Here, we investigated the satellite-free centromeres of by using ChIP-seq with anti-CENPA antibodies. We identified an extraordinarily high number of centromeres lacking satellite DNA (16 of 31). All of them lay in LINE- and AT-rich regio...
Valberg SJ, Nicholson AM, Lewis SS, Reardon RA, Finno CJ.To report a novel exertional myopathy, myofibrillar myopathy (MFM) in Warmblood (WB) horses. Objective: To 1) describe the distinctive clinical and myopathic features of MFM in Warmblood horses and 2) investigate the potential inheritance of MFM in a Warmblood family. Methods: Retrospective selection of MFM cases and prospective evaluation of a Warmblood family. Methods: Retrospectively, muscle biopsies were selected from Warmblood horses diagnosed with MFM and clinical histories obtained (n = 10). Prospectively, muscle biopsies were obtained from controls (n = 8) and a three generation WB...
Lassaline M, Cranford TL, Latimer CA, Bellone RR.To describe the prevalence of LSCC in Haflinger horses and to analyze affected horses' pedigrees investigating the genetic mode of inheritance. Methods: Fifteen horses met inclusion criterion of (i) being of the Haflinger breed, as confirmed by North American Haflinger Registry pedigree and (ii) being diagnosed with LSCC, as confirmed by clinical examination by a veterinary ophthalmologist or by histopathology. Pedigrees could not be obtained for four additional horses diagnosed with LSCC that had been identified as Haflingers. Methods: Retrospective medical record review of all 19 horses was ...
Rashmir-Raven A.Hereditary equine regional dermal asthenia is a form of Ehlers-Danlos syndrome, and has an autosomal recessive mode of inheritance. Affected horses are typically born normal and develop lesions within the first 2 years of life. The most common symptoms of the disease include stretchy, loose skin that feels doughy or mushy. More severely affected horses experience spontaneous skin sloughing and extensive lacerations, hematomas, and seromas from minor trauma. Affected horses have a higher than expected incidence of corneal ulcers. DNA testing can normal, establish carrier and affected status. Pa...
Wijnberg ID, Owczarek-Lipska M, Sacchetto R, Mascarello F, Pascoli F, Grünberg W, van der Kolk JH, Drögemüller C.A 7-month-old New Forest foal presented for episodes of recumbency and stiffness with myotonic discharges on electromyography. The observed phenotype resembled congenital myotonia caused by CLCN1 mutations in goats and humans. Mutation of the CLCN1 gene was considered as possible cause and mutation analysis was performed. The affected foal was homozygous for a missense mutation (c.1775A>C, p.D592A) located in a well conserved domain of the CLCN1 gene. The mutation showed a recessive mode of inheritance within the reported pony family. Therefore, this CLCN1 polymorphism is considered to be a...
White SD, Bourdeau P.Hereditary equine regional dermal asthenia (HERDA) in Quarter Horses is an inherited degenerative skin disease. Initially reported as hyperelastosis cutis, HERDA has a phenotype of hyperextensible, fragile skin, with secondary seromas, haematomas, ulcers and scarring. It primarily affects the dorsal aspect of the body. An autosomal recessive mode of inheritance is considered likely, with affected horses more at risk to produce affected offspring. A mutation in cyclophilin B (PPIB) as a novel, causal candidate gene for HERDA has been described, and verified as segregating with carriers and affe...
Brooks SA, Gabreski N, Miller D, Brisbin A, Brown HE, Streeter C, Mezey J, Cook D, Antczak DF.Lavender Foal Syndrome (LFS) is a lethal inherited disease of horses with a suspected autosomal recessive mode of inheritance. LFS has been primarily diagnosed in a subgroup of the Arabian breed, the Egyptian Arabian horse. The condition is characterized by multiple neurological abnormalities and a dilute coat color. Candidate genes based on comparative phenotypes in mice and humans include the ras-associated protein RAB27a (RAB27A) and myosin Va (MYO5A). Here we report mapping of the locus responsible for LFS using a small set of 36 horses segregating for LFS. These horses were genotyped usin...
Grahn BH, Pinard C, Archer S, Bellone R, Forsyth G, Sandmeyer LS.Multiple congenital ocular anomalies in purebred and crossbred Rocky and Kentucky Mountain horses in Canada are frequently diagnosed with biomicroscopic and indirect ophthalmoscopic examination. In order of frequency detected, these include temporal ciliary epithelial cysts; iridal hypoplasia; prominent corneas; focal temporal retinal degeneration related to ciliary cysts; and, rarely, retinal detachment. A pedigree analysis confirms a dominant mode of inheritance with incomplete penetrance and with a linkage to coat color. Des anomalies oculaires congénitales multiples chez des chevaux Rock...
Dranchak PK, Valberg SJ, Onan GW, Gallant EM, MacLeay JM, McKenzie EC, De La Corte FD, Ekenstedt K, Mickelson JR.To develop a diagnostic test for recurrent exertional rhabdomyolysis (RER) in Thoroughbreds that relied on in vitro contracture of muscle biopsy specimens and determine whether the inheritance pattern of RER diagnosed on the basis of this contracture test was consistent with an autosomal dominant trait. Methods: Clinical trial. Methods: 8 adult horses with RER and 16 control adult horses for development of the contracture test; 23 foals for inheritance of RER. Methods: External intercostal muscle biopsy specimens from the 24 adult horses were tested for contracture in response to halothane and...
Weideman H, Schoeman SJ, Jordaan GF.This study was carried out to estimate the heritability of liability to epistaxis in the southern African Thoroughbred population. Data of all horses that suffered epistaxis while racing in southern Africa and Mauritius from 1986 to 2002 and involving 1252 bleeders were analysed. Pedigree data covering the period 1960-1986 was used as required to calculate the incidence of bleeding amongst ancestors of the post-1986 era. Only pedigrees of horses that raced were included in this study as it was not possible to predict whether non-runners would have bled had they raced. Consequently all non-runn...
Tryon RC, White SD, Famula TR, Schultheiss PC, Hamar DW, Bannasch DL.To assess heritability and mode of inheritance for hereditary equine regional dermal asthenia (HERDA) in Quarter Horses. Methods: 1,295 horses with Quarter Horse bloodlines, including 58 horses affected with HERDA. Methods: Horses were classified as affected or unaffected or as undetermined when data were insufficient to assess phenotype. Pedigree data were analyzed to determine the probable mode of inheritance. Heritability was estimated by use of Bayesian statistical methods. Results: Heritability (mean+/-SD) of HERDA was estimated to be 0.38+/-0.13, with both sexes having an equal probabili...
White SD, Affolter VK, Bannasch DL, Schultheiss PC, Hamar DW, Chapman PL, Naydan D, Spier SJ, Rosychuk RA, Rees C, Veneklasen GO, Martin A, Bevier D....Data on fifty horses with hereditary equine regional dermal asthenia (HERDA; "hyperelastosis cutis") were collected on clinical, histopathological, ultrastructural and immunohistological findings. All horses were Quarter horses or of Quarter horse ancestry. Pedigree evaluation strongly supported an autosomal recessive mode of inheritance. The most common lesions were seromas/haematomas, open wounds, sloughing skin, and loose, easily tented skin that did not return to its initial position. Definitive diagnosis could not be made via histopathology, although the presence of tightly grouped thin a...
Blazyczek I, Hamann H, Ohnesorge B, Deegen E, Distl O.The objective of the present study was to analyze the mode of inheritance of guttural pouch tympany (GPT) using pedigrees of Arabian horses. Complex segregation analyses were employed to test for the significance of nongenetic transmission and for monogenic, polygenic, and mixed monogenic-polygenic modes of inheritance. Horses affected by GPT comprised 27 Arabian purebred foals. Of these 27 animals, 22 were patients at the Clinic for Horses, School of Veterinary Medicine Hannover, Hannover, Germany, between 1994 and 2001 and 5 Arabian foals were from stud farms. Information on the pedigrees of...
Bowling AT, Zimmermann W, Ryder O, Penado C, Peto S, Chemnick L, Yasinetskaya N, Zharkikh T.In our continuing efforts to document genetic diversity in Przewalski's horses and relatedness with domestic horses, we report genetic variation at 22 loci of blood group and protein polymorphisms and 29 loci of DNA (microsatellite) polymorphisms. The loci have been assigned by linkage or synteny mapping to 20 autosomes and the X chromosome of the domestic horse (plus four loci unassigned to a chromosome). With cumulative data from tests of 568 Przewalski's horses using blood, hair or tooth samples, no species-defining markers were identified, however a few markers were present in the wild spe...
Haechler S, Van den Ingh TS, Rogivue C, Ehrensperger F, Welle M.Congenital hepatic fibrosis with autosomal recessive or dominant inheritance has been described in humans, cats, piglets, and dogs. In horses, only two cases of congenital hepatic fibrosis have been previously reported. This retrospective study of records from the Institute for Animal Pathology, University of Berne, identified 30 foals with liver lesions compatible with congenital hepatic fibrosis. Anamnestic data revealed clinical signs of severe liver injury in most affected animals. Pathologic examination showed severely enlarged, firm livers with thin-walled cysts. Histologically, the live...
Ewart SL, Ramsey DT, Xu J, Meyers D.Anterior segment dysgenesis syndrome occurs frequently in Rocky Mountain horses and has two distinct ocular phenotypes: (1) large cysts originating from the temporal ciliary body or peripheral retina and (2) multiple anterior segment anomalies including ciliary cysts, iris hypoplasia, iridocorneal adhesions and opacification, nuclear cataract, and megalocornea. To determine if anterior segment dysgenesis syndrome is heritable in horses we performed ophthalmic examinations and collected pedigree information on horses (n = 516) in an extended Rocky Mountain horse pedigree. Logistic regressive se...
Eggleston-Stott ML, Delvalle A, Dileanis S, Wictum E, Bowling AT.The equine dinucleotide microsatellite HMS7 is part of a microsatellite panel utilized in a parentage verification programme at the Veterinary Genetics Laboratory (Davis, California, USA). Apparent non-Mendelian inheritance was noted when a Quarter Horse mare was excluded as the parent of two offspring based on analysis of the HMS7 locus. The mare's DNA type qualified her as a parent of the offspring at an additional 20 microsatellite loci. The three animals appeared homozygous for HMS7 with each possessing an allele different from that of the other two animals. Polymerase chain reaction prime...
Naylor JM.Hyperkalemic periodic paralysis is an autosomal codominant genetic disease of horses who are descendants of the quarter horse sire Impressive. It produces a muscular phenotype that has been selected by show judges, which has resulted in the rapid dissemination of this disease. Clinical attacks are characterized by muscle fasciculation and spasm, and they respond to treatments for the concurrent hyperkalemia.
Kakoi H, Gawahara H, Miura N.An unusual D system phenogroup appeared in one family line of Anglo-Arab horse. This phenogroup probably originated from inheritance with an apparent absence of factors and was transmitted through successive generations.
Spier SJ, Carlson GP, Harrold D, Bowling A, Byrns G, Bernoco D.Four Quarter Horses (1 stallion, 3 mares) with hyperkalemic periodic paralysis were mated to unaffected horses to determine the genetic basis of the disease. The affected stallion was bred to 11 unaffected mares (4 Quarter Horses, 1 Arabian, 2 Standardbreds, and 4 Thoroughbreds). The 3 affected mares were bred to an unaffected Quarter Horse stallion. Of the 15 offspring obtained from these matings, 9 were affected with hyperkalemic periodic paralysis, and 6 were unaffected, consistent with an autosomal dominant mode of inheritance. Diagnosis was established by results of oral administration of...
Ojala M, Ala-Huikku J.From 1974 to 1979, seven stillborn foals with internal hydrocephalus were encountered from one Standardbred trotter stallion which sired 239 registered foals. An hydrocephalic foal was also aborted by a daughter of the same stallion. One affected foal from Standardbred trotters and one from a Finnish Horses were also reported. In some cases, the condition caused severe dystocia. Based on field data, possible causes of the defect could neither be proved nor specifically overruled in individual cases. Hydrocephalus was obviously not an autosomal recessive single-locus defect, nor was it X-linked...
Naylor JM, Robinson JA, Crichlow EC, Steiss JE.Electromyography (EMG) was used to detect myotonic discharges in Quarter Horse breeding stock and to follow the results of mating horses with hyperkalemic periodic paralysis (HPP). The studies were performed on two brood mare farms. A total of six breeding stock showed myotonic discharges and 15 were nonmyotonic. Myotonic discharges were seen in five of six horses belonging to the blood line previously implicated as being predisposed to HPP. Two of these horses had shown clinical signs of HPP. Only one of 15 breeding horses unrelated to the HPP predisposed blood line showed myotonic discharges...
Cothran EG, Henney PJ, King JA.The inheritance of the equine Tf F3 allele was examined in 39 parent-offspring combinations. For 26 of the cases the allele inherited by the offspring from the heterozygous parent could be determined. The proportion of individuals that inherited the F3 variant compared to the alternative allele was exactly 1:1. In five cases the parental phenotype was identical to that of the offspring. For the remaining eight cases the parent was homozygous for the F3 allele and all offspring had the F3 allele. The results were consistent with Mendelian inheritance.
Joyce JR, Martin JE, Storts RW, Skow L.The clinical, gross and microscopic ophthalmic lesions of iridial hypoplasia, limbic dermoids and cataracts in a Quarterhorse stallion and a group of its offspring are described. It is proposed that the lesions in the stallion were the result of an independent mutation and that the defects were transmitted to its offspring by an autosomal dominant gene.
Johnson GC, Kohn CW, Johnson CW, Garry F, Scott D, Martin S.Ultrastructural examination of a mechanobullous disease of probable hereditary nature in Belgian foals, confirmed light microscopic findings that separation of the dermo-epidermal junction occurred through the lamina lucida of the basement membrane, leaving the intact lamina densa adherent to the dermis and the plasmalemma of the basal epithelial cells intact. The location of the cleft and the presence of small hemidesmosomes in adjacent intact skin are additional characteristics which make this condition similar to junctional epidermolysis bullosa of man.
Beech J, Irby N.Congenital cataracts affecting the fetal and embryonal lens nucleus were found in 12 Morgan horses. Ten of the 12 affected animals were sired by the same stallion and the condition also affected his female half sibling. Although females were almost three times more likely to be affected than males (9 vs 3), the difference was not significant. The ratio of 11 normal to 10 affected offspring by the affected stallion is compatible with an autosomal dominant mode of inheritance.
Beech J, Aguirre G, Gross S.Nuclear cataracts were found in 2 groups of related Morgan horses. The cataracts were finely reticulated central spherical translucencies that sometimes extended to the region of the posterior "Y" suture. The cataracts were not associated with other ocular defects and did not impair vision. In 1 group of 8 horses, 5 were affected; in the other group, 6 of 8 were affected. Although a pattern of inheritance could not be determined, the familial distribution of the cataracts supported the conclusion that the defect was a heritable disorder.
Mammalian centromeres are associated with highly repetitive DNA (satellite DNA), which has so far hindered molecular analysis of this chromatin domain. Centromeres are epigenetically specified, and binding of the CENPA protein is their main determinant. In previous work, we described the first example of a natural satellite-free centromere on Chromosome 11. Here, we investigated the satellite-free centromeres of by using ChIP-seq with anti-CENPA antibodies. We identified an extraordinarily high number of centromeres lacking satellite DNA (16 of 31). All of them lay in LINE- and AT-rich regio...
Grahn BH, Pinard C, Archer S, Bellone R, Forsyth G, Sandmeyer LS.Multiple congenital ocular anomalies in purebred and crossbred Rocky and Kentucky Mountain horses in Canada are frequently diagnosed with biomicroscopic and indirect ophthalmoscopic examination. In order of frequency detected, these include temporal ciliary epithelial cysts; iridal hypoplasia; prominent corneas; focal temporal retinal degeneration related to ciliary cysts; and, rarely, retinal detachment. A pedigree analysis confirms a dominant mode of inheritance with incomplete penetrance and with a linkage to coat color. Des anomalies oculaires congénitales multiples chez des chevaux Rock...
Wijnberg ID, Owczarek-Lipska M, Sacchetto R, Mascarello F, Pascoli F, Grünberg W, van der Kolk JH, Drögemüller C.A 7-month-old New Forest foal presented for episodes of recumbency and stiffness with myotonic discharges on electromyography. The observed phenotype resembled congenital myotonia caused by CLCN1 mutations in goats and humans. Mutation of the CLCN1 gene was considered as possible cause and mutation analysis was performed. The affected foal was homozygous for a missense mutation (c.1775A>C, p.D592A) located in a well conserved domain of the CLCN1 gene. The mutation showed a recessive mode of inheritance within the reported pony family. Therefore, this CLCN1 polymorphism is considered to be a...
Perryman LE, Torbeck RL.A 3-year prospective breeding trial was designed to verify the mode of inheritance of combined immunodeficiency (CID) in Arabian horses. Twenty-six mares that had previously produced foals with CID were mated to a stallion that had sired foals with CID. Of 53 foals obtained, 15 (28.3%) had CID. The ratio of female to male foals was 28:25, and the ratio of female CID to male CID foals was 8:7. The results of this trial confirmed a suggestion that CID in Arabian horses is inherited as an autosomal recessive trait.
Bowling AT, Zimmermann W, Ryder O, Penado C, Peto S, Chemnick L, Yasinetskaya N, Zharkikh T.In our continuing efforts to document genetic diversity in Przewalski's horses and relatedness with domestic horses, we report genetic variation at 22 loci of blood group and protein polymorphisms and 29 loci of DNA (microsatellite) polymorphisms. The loci have been assigned by linkage or synteny mapping to 20 autosomes and the X chromosome of the domestic horse (plus four loci unassigned to a chromosome). With cumulative data from tests of 568 Przewalski's horses using blood, hair or tooth samples, no species-defining markers were identified, however a few markers were present in the wild spe...
Lassaline M, Cranford TL, Latimer CA, Bellone RR.To describe the prevalence of LSCC in Haflinger horses and to analyze affected horses' pedigrees investigating the genetic mode of inheritance. Methods: Fifteen horses met inclusion criterion of (i) being of the Haflinger breed, as confirmed by North American Haflinger Registry pedigree and (ii) being diagnosed with LSCC, as confirmed by clinical examination by a veterinary ophthalmologist or by histopathology. Pedigrees could not be obtained for four additional horses diagnosed with LSCC that had been identified as Haflingers. Methods: Retrospective medical record review of all 19 horses was ...
White SD, Affolter VK, Bannasch DL, Schultheiss PC, Hamar DW, Chapman PL, Naydan D, Spier SJ, Rosychuk RA, Rees C, Veneklasen GO, Martin A, Bevier D....Data on fifty horses with hereditary equine regional dermal asthenia (HERDA; "hyperelastosis cutis") were collected on clinical, histopathological, ultrastructural and immunohistological findings. All horses were Quarter horses or of Quarter horse ancestry. Pedigree evaluation strongly supported an autosomal recessive mode of inheritance. The most common lesions were seromas/haematomas, open wounds, sloughing skin, and loose, easily tented skin that did not return to its initial position. Definitive diagnosis could not be made via histopathology, although the presence of tightly grouped thin a...
Dranchak PK, Valberg SJ, Onan GW, Gallant EM, MacLeay JM, McKenzie EC, De La Corte FD, Ekenstedt K, Mickelson JR.To develop a diagnostic test for recurrent exertional rhabdomyolysis (RER) in Thoroughbreds that relied on in vitro contracture of muscle biopsy specimens and determine whether the inheritance pattern of RER diagnosed on the basis of this contracture test was consistent with an autosomal dominant trait. Methods: Clinical trial. Methods: 8 adult horses with RER and 16 control adult horses for development of the contracture test; 23 foals for inheritance of RER. Methods: External intercostal muscle biopsy specimens from the 24 adult horses were tested for contracture in response to halothane and...
Joyce JR, Martin JE, Storts RW, Skow L.The clinical, gross and microscopic ophthalmic lesions of iridial hypoplasia, limbic dermoids and cataracts in a Quarterhorse stallion and a group of its offspring are described. It is proposed that the lesions in the stallion were the result of an independent mutation and that the defects were transmitted to its offspring by an autosomal dominant gene.
Lazary S, Bullen S, Müller J, Kovacs G, Bodo I, Hockenjos P, De Weck AL.Mono- and oligospecific lymphocytotoxic alloantibodies from primiparous mares were tested on cells from horse families of various breeds in the two-step microcytotoxicity assay. The results showed that the detected antigens were inherited co-dominantly and autosomally as simple Mendelian traits. The membrane antigens showed different linkage with one or more other antigens and seem to be coded by a limited number of loci (at least three) from one chromosome. In the families tested one recombinant for the serologically defined antigens was recognized. The mixed leukocyte reactions of cells from...
Blazyczek I, Hamann H, Ohnesorge B, Deegen E, Distl O.The objective of the present study was to analyze the mode of inheritance of guttural pouch tympany (GPT) using pedigrees of Arabian horses. Complex segregation analyses were employed to test for the significance of nongenetic transmission and for monogenic, polygenic, and mixed monogenic-polygenic modes of inheritance. Horses affected by GPT comprised 27 Arabian purebred foals. Of these 27 animals, 22 were patients at the Clinic for Horses, School of Veterinary Medicine Hannover, Hannover, Germany, between 1994 and 2001 and 5 Arabian foals were from stud farms. Information on the pedigrees of...
Rashmir-Raven A.Hereditary equine regional dermal asthenia is a form of Ehlers-Danlos syndrome, and has an autosomal recessive mode of inheritance. Affected horses are typically born normal and develop lesions within the first 2 years of life. The most common symptoms of the disease include stretchy, loose skin that feels doughy or mushy. More severely affected horses experience spontaneous skin sloughing and extensive lacerations, hematomas, and seromas from minor trauma. Affected horses have a higher than expected incidence of corneal ulcers. DNA testing can normal, establish carrier and affected status. Pa...
The Journal of heredityNovember 1, 1975
Volume 66, Issue 6 318-326 doi: 10.1093/oxfordjournals.jhered.a108640
Gardner EJ, Shupe JL, Leone NC, Olson AE.Comparative studies are being conducted on hereditary multiple exostosis in man and the horse. In both, there is an unquestionable inheritance pattern of a typical single, dominant, autosomal gene. Those who carry the gene have a one-half chance of transmitting it to each offspring, whereas, those who do not carry the gene do not transmit this abnormality to their progeny. The lesions are clinically and histologically similar; no persistent chromosomal irregularities have been associated with the abnormality in either man or the horse and no single evidence of malignancy in either man or anima...
Ojala M, Ala-Huikku J.From 1974 to 1979, seven stillborn foals with internal hydrocephalus were encountered from one Standardbred trotter stallion which sired 239 registered foals. An hydrocephalic foal was also aborted by a daughter of the same stallion. One affected foal from Standardbred trotters and one from a Finnish Horses were also reported. In some cases, the condition caused severe dystocia. Based on field data, possible causes of the defect could neither be proved nor specifically overruled in individual cases. Hydrocephalus was obviously not an autosomal recessive single-locus defect, nor was it X-linked...
Beech J, Irby N.Congenital cataracts affecting the fetal and embryonal lens nucleus were found in 12 Morgan horses. Ten of the 12 affected animals were sired by the same stallion and the condition also affected his female half sibling. Although females were almost three times more likely to be affected than males (9 vs 3), the difference was not significant. The ratio of 11 normal to 10 affected offspring by the affected stallion is compatible with an autosomal dominant mode of inheritance.
Shupe JL, Leone NC, Olson AE, Gardner EJ.Investigation of hereditary multiple exostoses in horses under controlled research conditions for 10 years and epidemiologic studies that have spanned up to five generations of human families contain notable similarities. The present study demonstrated that a single dominant autosomal gene is responsible for hereditary multiple exostoses in horses and man. Affected individuals transmit this trait to approximately 50% of their progeny, whereas nonaffected individuals do not transmit the condition to their offspring. The tumors in affected horses are most often present at birth. They tend to be ...
Weideman H, Schoeman SJ, Jordaan GF.This study was carried out to estimate the heritability of liability to epistaxis in the southern African Thoroughbred population. Data of all horses that suffered epistaxis while racing in southern Africa and Mauritius from 1986 to 2002 and involving 1252 bleeders were analysed. Pedigree data covering the period 1960-1986 was used as required to calculate the incidence of bleeding amongst ancestors of the post-1986 era. Only pedigrees of horses that raced were included in this study as it was not possible to predict whether non-runners would have bled had they raced. Consequently all non-runn...
Johnson GC, Kohn CW, Johnson CW, Garry F, Scott D, Martin S.Ultrastructural examination of a mechanobullous disease of probable hereditary nature in Belgian foals, confirmed light microscopic findings that separation of the dermo-epidermal junction occurred through the lamina lucida of the basement membrane, leaving the intact lamina densa adherent to the dermis and the plasmalemma of the basal epithelial cells intact. The location of the cleft and the presence of small hemidesmosomes in adjacent intact skin are additional characteristics which make this condition similar to junctional epidermolysis bullosa of man.
Eggleston-Stott ML, Delvalle A, Dileanis S, Wictum E, Bowling AT.The equine dinucleotide microsatellite HMS7 is part of a microsatellite panel utilized in a parentage verification programme at the Veterinary Genetics Laboratory (Davis, California, USA). Apparent non-Mendelian inheritance was noted when a Quarter Horse mare was excluded as the parent of two offspring based on analysis of the HMS7 locus. The mare's DNA type qualified her as a parent of the offspring at an additional 20 microsatellite loci. The three animals appeared homozygous for HMS7 with each possessing an allele different from that of the other two animals. Polymerase chain reaction prime...
Naylor JM.Hyperkalemic periodic paralysis is an autosomal codominant genetic disease of horses who are descendants of the quarter horse sire Impressive. It produces a muscular phenotype that has been selected by show judges, which has resulted in the rapid dissemination of this disease. Clinical attacks are characterized by muscle fasciculation and spasm, and they respond to treatments for the concurrent hyperkalemia.
Haechler S, Van den Ingh TS, Rogivue C, Ehrensperger F, Welle M.Congenital hepatic fibrosis with autosomal recessive or dominant inheritance has been described in humans, cats, piglets, and dogs. In horses, only two cases of congenital hepatic fibrosis have been previously reported. This retrospective study of records from the Institute for Animal Pathology, University of Berne, identified 30 foals with liver lesions compatible with congenital hepatic fibrosis. Anamnestic data revealed clinical signs of severe liver injury in most affected animals. Pathologic examination showed severely enlarged, firm livers with thin-walled cysts. Histologically, the live...
Spier SJ, Carlson GP, Harrold D, Bowling A, Byrns G, Bernoco D.Four Quarter Horses (1 stallion, 3 mares) with hyperkalemic periodic paralysis were mated to unaffected horses to determine the genetic basis of the disease. The affected stallion was bred to 11 unaffected mares (4 Quarter Horses, 1 Arabian, 2 Standardbreds, and 4 Thoroughbreds). The 3 affected mares were bred to an unaffected Quarter Horse stallion. Of the 15 offspring obtained from these matings, 9 were affected with hyperkalemic periodic paralysis, and 6 were unaffected, consistent with an autosomal dominant mode of inheritance. Diagnosis was established by results of oral administration of...
Naylor JM, Robinson JA, Crichlow EC, Steiss JE.Electromyography (EMG) was used to detect myotonic discharges in Quarter Horse breeding stock and to follow the results of mating horses with hyperkalemic periodic paralysis (HPP). The studies were performed on two brood mare farms. A total of six breeding stock showed myotonic discharges and 15 were nonmyotonic. Myotonic discharges were seen in five of six horses belonging to the blood line previously implicated as being predisposed to HPP. Two of these horses had shown clinical signs of HPP. Only one of 15 breeding horses unrelated to the HPP predisposed blood line showed myotonic discharges...
Thompson DB, Studdert MJ, Beilharz RG, Littlejohns IR.A fatal syndrome of certain Arabian foals which begins at about 25 days of age (range 14 to 46 days) and which runs a course of about 23 days (range 13 to 42 days) is described. The syndrome, which affected 17 foals on a single farm is further characterised by pneumonia, in some instances by dermatitis (dermatophilosis) and other infections, together with a progressive decline in health till death at about 49 days of age (range 34 to 77 days), despite intensive therapy. Four of the foals, on histopathological evidence, had adenviral pneumonia, in 2 foals there was histopathological evidence of...
White SD, Bourdeau P.Hereditary equine regional dermal asthenia (HERDA) in Quarter Horses is an inherited degenerative skin disease. Initially reported as hyperelastosis cutis, HERDA has a phenotype of hyperextensible, fragile skin, with secondary seromas, haematomas, ulcers and scarring. It primarily affects the dorsal aspect of the body. An autosomal recessive mode of inheritance is considered likely, with affected horses more at risk to produce affected offspring. A mutation in cyclophilin B (PPIB) as a novel, causal candidate gene for HERDA has been described, and verified as segregating with carriers and affe...
Beech J, Aguirre G, Gross S.Nuclear cataracts were found in 2 groups of related Morgan horses. The cataracts were finely reticulated central spherical translucencies that sometimes extended to the region of the posterior "Y" suture. The cataracts were not associated with other ocular defects and did not impair vision. In 1 group of 8 horses, 5 were affected; in the other group, 6 of 8 were affected. Although a pattern of inheritance could not be determined, the familial distribution of the cataracts supported the conclusion that the defect was a heritable disorder.
