Hereditary Equine Regional Dermal Asthenia
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Hereditary Equine Regional Dermal Asthenia
Hereditary equine regional dermal asthenia (HERDA), also known as hyperelastosis cutis (HC), is an inherited autosomal recessive connective tissue disorder. It develops from a homozygous recessive mutation that weakens collagen fibers that allow the skin of the animal to stay connected to the rest of the animal. Affected horses have extremely fragile skin that tears easily and exhibits impaired healing. In horses with HC, the skin separates between the deep and superficial dermis. There is no cure. Most affected individuals receive an injury they cannot heal, and are euthanized. Managed breeding strategy is currently the only option for reducing the incidence of the disease. The disease is found primarily in the American Quarter Horse, specifically in cutting horse lines. Affected horses have been found to trace to the stallion Poco Bueno, or possibly, farther back to one of his ancestors. Researchers have now named four deceased Quarter Horse stallions that were carriers and produ ...
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Dominance Relationship
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ...
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Appaloosa
The Appaloosa is an American horse breed best known for its colorful spotted coat pattern. There is a wide range of body types within the breed, stemming from the influence of multiple breeds of horses throughout its history. Each horse's color pattern is genetically the result of various spotting patterns overlaid on top of one of several recognized base coat colors. The color pattern of the Appaloosa is of interest to those who study equine coat color genetics, as it and several other physical characteristics are linked to the leopard complex mutation (LP). Appaloosas are prone to develop equine recurrent uveitis and congenital stationary night blindness; the latter has been linked to the leopard complex. Artwork depicting prehistoric horses with leopard spotting exists in prehistoric cave paintings in Europe. Images of domesticated horses with leopard spotting patterns appeared in artwork from Ancient Greece and Han dynasty China through the early modern period. In North A ...
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University Of California, Davis
The University of California, Davis (UC Davis, UCD, or Davis) is a public land-grant research university near Davis, California. Named a Public Ivy, it is the northernmost of the ten campuses of the University of California system. The institution was first founded as an agricultural branch of the system in 1905 and became the seventh campus of the University of California in 1959. The university is classified among "R1: Doctoral Universities – Very high research activity". The UC Davis faculty includes 23 members of the National Academy of Sciences, 30 members of the American Academy of Arts and Sciences, 17 members of the American Law Institute, 14 members of the Institute of Medicine, and 14 members of the National Academy of Engineering. Among other honors that university faculty, alumni, and researchers have won are two Nobel Prizes, one Fields Medal, a Presidential Medal of Freedom, three Pulitzer Prizes, three MacArthur Fellowships, and a National Medal of Scien ...
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Cornell University
Cornell University is a private statutory land-grant research university based in Ithaca, New York. It is a member of the Ivy League. Founded in 1865 by Ezra Cornell and Andrew Dickson White, Cornell was founded with the intention to teach and make contributions in all fields of knowledge—from the classics to the sciences, and from the theoretical to the applied. These ideals, unconventional for the time, are captured in Cornell's founding principle, a popular 1868 quotation from founder Ezra Cornell: "I would found an institution where any person can find instruction in any study." Cornell is ranked among the top global universities. The university is organized into seven undergraduate colleges and seven graduate divisions at its main Ithaca campus, with each college and division defining its specific admission standards and academic programs in near autonomy. The university also administers three satellite campuses, two in New York City and one in Education City, Qatar ...
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PPIB
Peptidyl-prolyl cis-trans isomerase B is an enzyme that is encoded by the ''PPIB'' gene. As a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family, this protein catalyzes the cis-trans isomerization of proline imidic peptide bonds, which allows it to regulate protein folding of type I collagen. Generally, PPIases are found in all eubacteria and eukaryotes, as well as in a few archaebacteria, and thus are highly conserved. Structure Like other cyclophilins, PPIB forms a β-barrel structure with a hydrophobic core. This β-barrel is composed of eight anti-parallel β-strands and capped by two α-helices at the top and bottom. In addition, the β-turns and loops in the strands contribute to the flexibility of the barrel. In particular, PPIB is a 21 kDa protein which contains a C-terminal ER retention motif that directs the protein to the ER organelle, while its N-terminal extension attaches it to its substrates. Function PPIB is a member of the peptidyl-prolyl cis ...
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Homozygous
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each of their two sets of homologous chromosomes except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes may be mismatched as part of a chromosomal sex-determination system. If both alleles of a diploid organism are the same, the organism is homozygous at that locus. If they are different, the organism is heterozygous at that locus. If one allele is missing, it is hemizygous, and, if both alleles are missing, it is nullizygous. The DNA sequence of a gene often varies from one individual to another. These gene variants are called alleles. While some gen ...
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Inbreeding
Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely related genetically. By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences that may arise from expression of deleterious or recessive traits resulting from incestuous sexual relationships and consanguinity. Animals avoid incest only rarely. Inbreeding results in homozygosity, which can increase the chances of offspring being affected by recessive traits. In extreme cases, this usually leads to at least temporarily decreased biological fitness of a population (called inbreeding depression), which is its ability to survive and reproduce. An individual who inherits such deleterious traits is colloquially referred to as ''inbred''. The avoidance of expression of such deleterious recessive alleles caused by inbreeding, via inbreeding avoidance mechanisms, is the main selective reason for outcrossin ...
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Pedigree Chart
A pedigree chart is a diagram that shows the occurrence and appearance of phenotypes of a particular gene or organism and its ancestors from one generation to the next, most commonly humans, show dogs, and race horses. Definition The word pedigree is a corruption of the Anglo-Norman French ''pé de grue'' or "crane's foot", either because the typical lines and split lines (each split leading to different offspring of the one parent line) resemble the thin leg and foot of a crane or because such a mark was used to denote succession in pedigree charts. A pedigree results in the presentation of family information in the form of an easily readable chart. It can be simply called as a "family tree". Pedigrees use a standardized set of symbols, squares represent males and circles represent females. Pedigree construction is a family history, and details about an earlier generation may be uncertain as memories fade. If the sex of the person is unknown a diamond is used. Someone with the ph ...
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Allele
An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chromosomal or genomic location of a gene or any other genetic element is called a locus (plural: loci) and alternative DNA sequences at a locus are called alleles." The simplest alleles are single nucleotide polymorphisms (SNP). but they can also be insertions and deletions of up to several thousand base pairs. Popular definitions of 'allele' typically refer only to different alleles within genes. For example, the ABO blood grouping is controlled by the ABO gene, which has six common alleles (variants). In population genetics, nearly every living human's phenotype for the ABO gene is some combination of just these six alleles. Most alleles observed result in little or no change in the function of the gene product it codes for. However, ...
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Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book ''The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as cad ...
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American Paint Horse
The American Paint Horse is a breed of horse that combines both the conformational characteristics of a western stock horse with a pinto spotting pattern of white and dark coat colors. Developed from a base of spotted horses with Quarter Horse and Thoroughbred bloodlines, the American Paint Horse Association (APHA) breed registry is now one of the largest in North America. The registry allows some non-spotted animals to be registered as "Solid Paint Bred" and considers the American Paint Horse to be a horse breed with distinct characteristics, not merely a color breed. Registration The American Paint Horse's combination of color and conformation has made the American Paint Horse Association (APHA) the second-largest breed registry in the United States. While the colorful coat pattern is essential to the identity of the breed, American Paint Horses have strict bloodline requirements and a distinctive stock-horse body type. To be eligible for registry, a Paint's sire and dam mus ...
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Connective Tissue
Connective tissue is one of the four primary types of animal tissue, along with epithelial tissue, muscle tissue, and nervous tissue. It develops from the mesenchyme derived from the mesoderm the middle embryonic germ layer. Connective tissue is found in between other tissues everywhere in the body, including the nervous system. The three meninges, membranes that envelop the brain and spinal cord are composed of connective tissue. Most types of connective tissue consists of three main components: elastic and collagen fibers, ground substance, and cells. Blood, and lymph are classed as specialized fluid connective tissues that do not contain fiber. All are immersed in the body water. The cells of connective tissue include fibroblasts, adipocytes, macrophages, mast cells and leucocytes. The term "connective tissue" (in German, ''Bindegewebe'') was introduced in 1830 by Johannes Peter Müller. The tissue was already recognized as a distinct class in the 18th century. ...
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