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Topic:Alleles
Alleles in horses refer to the different versions of a gene that exist within the equine genome, contributing to the diversity of traits observed in horse populations. These genetic variations can influence a wide range of characteristics, including coat color, height, temperament, and susceptibility to certain diseases. Understanding alleles is crucial for breeding programs, as they help predict the inheritance of desirable traits and manage genetic disorders. Common examples include the alleles responsible for coat color variations, such as the Extension (E) and Agouti (A) loci. This page compiles peer-reviewed research studies and scholarly articles that explore the identification, function, and impact of alleles on equine genetics, offering insights into their role in shaping the phenotypic and health-related traits of horses.
Unusual D system inheritance in Anglo-Arab horse. 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.
Horse (Equus caballus) T-cell receptor alpha, gamma, and delta chain genes: nucleotide sequences and tissue-specific gene expression. Horse (Equus caballus) T-cell receptor alpha (TCRA), gamma (TCRG), and delta (TCRD) chain genes were isolated from a cDNA library and characterized. Five unique TCRAV families, including four full-length sequences, five distinct TCRAJ genes, and a single TCRAC gene were identified. TCRAV genes had closest homology with human sequences and least similarity to rat genes. Among eight horse TCRG genes, two distinct constant region genes with considerable variation in the connecting region were identified, but no variable or joining genes were present. Southern blot hybridization confirmed the pres...
Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis. It is often suggested that polygenic or environmental factors are responsible for clinical variability between patients with identical mutations. However, most dominant diseases are caused by a change-of-function alteration in the mutant allele's protein product. All patients are heterozygous and presumably express both mutant and normal proteins from the corresponding genes. Thus, a possible molecular mechanism for clinical variability could be the difference in relative levels of mutant vs. normal mRNA in different patients with the same mutation. To investigate this hypothesis, it is necess...
Blood protein polymorphisms in the donkey (Equus asinus). Transferrin, albumin, 6-phosphogluconate dehydrogenase and vitamin D-binding protein polymorphisms were detected in 242 feral and domesticated Australian donkeys by polyacrylamide gel electrophoresis, starch gel electrophoresis, autoradiography, immunoblotting with specific antisera and activity staining. All four TF and two ALB variants were donkey specific while only one of the PGD variants was donkey specific. The two GC variants were electrophoretically identical to the Equus caballus F and S proteins. Available evidence suggested that the TF, ALB, PGD and GC systems are controlled by co-d...
Investigation of association between alpha-1 proteinase inhibitor haplotype and endometritis in the thoroughbred mare. Failure to inhibit proteinases can lead to excessive tissue damage. The possibility that the severity of endometritis in Thoroughbred mares correlates with the haplotypes of plasma alpha 1-proteinase inhibitor (alpha 1-PI) expressed was investigated in two groups of mares. In mares with pyometritis before treatment, the frequency of the N haplotype, which is already high in the Thoroughbred population, was significantly increased when compared with that in a large published population. In mares with acute endometritis which persisted after treatment followed by sexual rest, the absence of S an...
A new phenogroup in the horse D system of red cell alloantigens found in the Caspian pony. A new D blood group phenogroup consisting of the specificities adeo was observed in a stallion family of Caspian ponies from Iran. An additional six undescribed genetic variants were seen in a total of 82 Iranian horses. This result suggests extensive new genetic variation may be present in domestic horses from geographic regions that have not yet received scientific attention.
Parentage testing and linkage analysis in the horse using a set of highly polymorphic microsatellites. Ten (TG)n positive clones, isolated from an equine genomic library and sequenced, contained 12-19 uninterrupted TG repeats. Primers for polymerase chain reaction (PCR) were synthesized and nine of these (TG)n loci (HTG7-15) were successfully amplified and utilized in this study together with five previously reported equine microsatellite loci (HTG2-6). The PCR products were analysed by polyacrylamide gel electrophoresis followed by automated laser fluorescence detection or autoradiography. All microsatellites showed polymorphism and stable Mendelian inheritance. Differences in microsatellite v...
Genetic blood markers in Arabian, Barb and Arab-Barb horses in Morocco. Gene frequencies at 16 blood group and protein polymorphism loci (A, C, D, K, P, Q, U, Al, Gc, Es, A1B, Tf, PGD, PGM, GPI and Pi) are given for three horse breeds in Morocco (Arabian, Arab-Barb and Barb). These data are used to calculate average heterozygosity (h), Nei's standard genetic distance (DN) and probability of exclusion (PE). Variability expressed as the average heterozygosity was lower in the Arabian (0.330 +/- 0.066), while it was higher and almost the same in the Arab-Barb (0.413 +/- 0.071) and the Barb (0.414 +/- 0.070). The shortest genetic distance was found between Barb and Ar...
Polymorphism in the coding sequence of the horse transferrin gene. Transferrin, the iron transport protein of the blood, is highly polymorphic in many species, including the horse. A number of sequence polymorphisms that distinguish several of the variants of horse transferrin are reported here. Previous studies indicated that exons 12 and 15 were likely to be polymorphic. Sequencing regions of exons 12 and 15 from D and R variants revealed 10 nucleotide substitutions that encoded six amino acid replacements. The F1, F2, H2, and * variants were identical to D, and the O variant was almost identical to R, in the regions studied. The data indicated that the hor...
Rare alleles, MHC and captive breeding. In recent years, more detailed genetic information has become available for individuals of endangered species in captive breeding programs. There have been suggestions that this information be used to identify rare alleles, particularly those at the MHC, that can be subsequently selected for captive breeding programs. First, we summarize the current information on the MHC relevant to conservation genetics, so that such a possible breeding program is seen in a proper perspective. For example, very few specific alleles at the MHC have been identified as selectively advantageous, even though ther...
Equine plasminogen polymorphism: allelic frequencies in 23 breeds. A modified procedure for detection of the two alleles of equine plasminogen using Western blotting methods following polyacrylamide gel isoelectric focusing is described. Gene frequencies in 23 breeds and Equus przewalskii are provided.
Comparative studies of the Spi1 proteins of three equine alpha-1-proteinase inhibitor haplotypes following isolation by affinity chromatography. 1. Antiproteinase deficiency can result in excessive proteinase-induced tissue damage. The major anti-elastase (Spi1) protein of equine alpha 1-proteinase inhibitor (alpha 1-PI) was isolated from the plasma/serum of three common haplotypes (I, L and U). 2. The N-terminal amino acid sequences of the three inhibitors were identical, but were only approx 65-77% homologous with two other published equine Spi1 sequences. 3. All three inhibitors complexed quickly and irreversibly with equine leucocyte proteinase 2A (kass = 2 x 10(7) M-1 sec-1). They were also efficient inhibitors of chymase (rat mas...
Correlation between the individual heterozygosity of parents and their offspring. Specific formulations are derived for the correlation between the heterozygosity of a randomly mating parent and its offspring for a diallelic locus, and for the correlation when multiple loci are considered. The expected correlation is maximal, approaching r = 0.50, when allelic frequencies are highly asymmetric, and it is zero when the allelic frequencies are equal to 0.50. Parent-offspring correlations, up to a maximum of 0.50 for diallelic loci, indicate that levels of heterozygosity can respond to selection. Multilocus allozyme data from limber pine, Pinus flexilis, and from horses of sta...
DNA sequence analysis of serologically detected ELA class II haplotypes at the equine DQ beta locus. The genetic diversity at the ELA DQ beta locus was investigated using polymerase chain reaction and DNA sequencing. Based upon serological methods 16 class II homozygous animals were selected and their genomic DNA was used. A DQ beta gene from an equine cDNA library was also sequenced. Our methodology and the similarity between the genomic and the cDNA sequences suggest that the studied locus is expressed on equine lymphocytes. In the predicted amino acid sequence the most extensive variation is located at residues 56-60. The pattern of these five amino acids is strongly correlated to the sero...
Characterization of a novel variant of amino acid transport system asc in erythrocytes from Przewalski’s horse (Equus przewalskii). In thoroughbred horses, red blood cell amino acid transport activity is Na(+)-independent and controlled by three codominant genetic alleles (h, l, s), coding for high-affinity system asc1 (L-alanine apparent Km for influx at 37 degrees C congruent to 0.35 mM), low-affinity system asc2 (L-alanine Km congruent to 14 mM), and transport deficiency, respectively. The present study investigated amino acid transport mechanisms in red cells from four wild species: Przewalski's horse (Equus przewalskii), Hartmann's zebra (Zebra hartmannae), Grevy's zebra (Zebra grevyi), and onager (Equus hemonius). Re...
[Genetic differentiation between breeds of horses by polymorphic blood protein loci]. The estimation of genetic differentiation between 27 horses breeds originated in USSR, based on serum proteins polymorphism (loci Tf, Al, Es) is shown. Genetical variability among aborigine breeds is higher then among cultural ones. The erosion of gene pool of Przewalski's Horse is explained by special history of this population and a few horses in analyzing group. Genetic distances reflect the directions and intensity of breeding. High genetical distances between Przewalski's Horse, Shetland Pony and other horses obtained could be explained by overcoming the "bottle neck" of selections in bre...
A new genetic variant Z2 in the Pi system of horses. A new genetic variant in the horse Pi system, designated Z2, was reported in Polish Arabs by using two-dimensional agarose polyacrylamide gel electrophoresis. The frequencies of Pi alleles F, G, L, L2, N, S, U, W, Z and Z2 were found to be 0.036, 0.005, 0.171, 0.013, 0.008, 0.237, 0.416, 0.003, 0.107 and 0.004 respectively.
Cloning of highly polymorphic microsatellites in the horse. We have isolated equine microsatellites by screening a genomic library with (TG)n and (TC)n probes. TG microsatellites were found to be more abundant than TC repeats, with an estimated frequency of one per 100,000bp. Sequence analysis of eight TG-positive clones revealed varying structures of the repeat regions; perfect stretches of TG repeats, imperfect stretches of TG repeats and compound regions of TG and TC repeats. Five loci were analysed by PCR and showed extensive polymorphism; three to seven alleles and heterozygosities of 0.40-0.76 were observed when screening 20-30 unrelated individu...
One-dimensional isoelectric focusing and immunoblotting of equine major histocompatibility complex class I antigens. The cells of 60 randomly selected Hannoveranian warm-blooded horses were subjected to one-dimensional isoelectric focusing and immunoblotting with a cross-reacting monoclonal antibody (Bo 1) recognizing bovine class I antigens. The banding patterns were correlated with the serologically defined specificities of the ELA-A locus. ELA-A2 was correlated with four bands, while ELA-A5, ELA-W18, ELA-A6, ELA-A14 and ELA-A9 were correlated with a single band each. The complexity of the pattern and additional polymorphic bands which could not be correlated to any of the known ELA specificities may indic...
New A system allele of red cell alloantigens in Paso Fino horses. Family data from Paso Fino horses support the existence of a new allele (Aabdf) in the A system of red cell alloantigens. Considering breeds throughout the world, the A system now consists of 13 alleles defined by reagents which serologically detect seven factors.
Common white facial markings in bay and chestnut Arabian horses and their hybrids. Common white facial and leg markings have a multifactorial mode of inheritance in Equus caballus. Evidence for the complexity of the genetic component is the observation that chestnut (e/e) horses have more extensive white markings than do bay (E/-) horses. Computerized records obtained from the Arabian Horse Registry of America, Inc., were used to determine if heterozygous (E/e) bay horses have more extensive white facial markings than do homozygous (E/E) bay horses. Thirty-five sire families were analyzed. Each sire family consists of a sire, his foals, and the dams of those foals. The facia...
Donkey and horse alpha 1 B-glycoprotein: partial characterization and new alleles. 1. The donkey postalbumin protein has been shown to be the equivalent of human alpha 1 B-glycoprotein by protein immunoblotting and N-terminal amino acid sequence. 2. The horse A1B system (already identified as the homologue of human alpha 1 B-glycoprotein) and the donkey alpha 1 B-glycoprotein were characterized further for terminal sialic acid content, isoelectric point, amino acid composition and affinity for the dye-ligand, Cibacron Blue F3GA (known to bind human alpha 1 B-glycoprotein). 3. Two new alleles in the horse A1B system were found, bringing the total number of alleles to five. No...
