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Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds

SIMPLE SUMMARY: The high prevalence of genetic diseases in dog breeds and the structure of their populations has led to detailed studies of the canine genome, which are important for understanding the origin of these pathologies. The location of certain genes involved in a few autosomal recessive mo...

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Autores principales: Marín-García, Pablo Jesús, Llobat, Lola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9412528/
https://www.ncbi.nlm.nih.gov/pubmed/36006348
http://dx.doi.org/10.3390/vetsci9080433
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author Marín-García, Pablo Jesús
Llobat, Lola
author_facet Marín-García, Pablo Jesús
Llobat, Lola
author_sort Marín-García, Pablo Jesús
collection PubMed
description SIMPLE SUMMARY: The high prevalence of genetic diseases in dog breeds and the structure of their populations has led to detailed studies of the canine genome, which are important for understanding the origin of these pathologies. The location of certain genes involved in a few autosomal recessive monogenic diseases, including genodermatosis. The most prevalent canine genodermatosis are non-epidermolytic ichthyosis, epidermolytic ichthyosis, and junctional epidermolysis bullosa. Other genodermatoses are nasal paraqueratosis, cutaneous mucinosis, dermoid sinus, lethal acrodermatitis, palmoplantar hyperkeratosis, or exfoliative cutaneous lupus erythematosus. Most of this genodermatosis is associated with a specific and known number of mutations, which have a higher prevalence in certain canine breeds. The main objective of this review is to analyze each of these genodermatoses, the genes and mutations associated with them, and the breeds with the greatest predisposition to suffer from them. ABSTRACT: The plasticity of the genome is an evolutionary factor in all animal species, including canines, but it can also be the origin of diseases caused by hereditary genetic mutation. Genetic changes, or mutations, that give rise to a pathology in most cases result from recessive alleles that are normally found with minority allelic frequency. The use of genetic improvement increases the consanguinity within canine breeds and, on many occasions, also increases the frequency of these recessive alleles, increasing the prevalence of these pathologies. This prevalence has been known for a long time, but mutations differ according to the canine breed. These genetic diseases, including skin diseases, or genodermatosis, which is narrowly defined as monogenic hereditary dermatosis. In this review, we focus on genodermatosis sensu estricto, i.e., monogenic, and hereditary dermatosis, in addition to the clinical features, diagnosis, pathogeny, and treatment. Specifically, this review analyzes epidermolytic and non-epidermolytic ichthyosis, junctional epidermolysis bullosa, nasal parakeratosis, mucinosis, dermoid sinus, among others, in canine breeds, such as Golden Retriever, German Pointer, Australian Shepherd, American Bulldog, Great Dane, Jack Russell Terrier, Labrador Retriever, Shar-Pei, and Rhodesian Ridgeback.
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spelling pubmed-94125282022-08-27 Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds Marín-García, Pablo Jesús Llobat, Lola Vet Sci Review SIMPLE SUMMARY: The high prevalence of genetic diseases in dog breeds and the structure of their populations has led to detailed studies of the canine genome, which are important for understanding the origin of these pathologies. The location of certain genes involved in a few autosomal recessive monogenic diseases, including genodermatosis. The most prevalent canine genodermatosis are non-epidermolytic ichthyosis, epidermolytic ichthyosis, and junctional epidermolysis bullosa. Other genodermatoses are nasal paraqueratosis, cutaneous mucinosis, dermoid sinus, lethal acrodermatitis, palmoplantar hyperkeratosis, or exfoliative cutaneous lupus erythematosus. Most of this genodermatosis is associated with a specific and known number of mutations, which have a higher prevalence in certain canine breeds. The main objective of this review is to analyze each of these genodermatoses, the genes and mutations associated with them, and the breeds with the greatest predisposition to suffer from them. ABSTRACT: The plasticity of the genome is an evolutionary factor in all animal species, including canines, but it can also be the origin of diseases caused by hereditary genetic mutation. Genetic changes, or mutations, that give rise to a pathology in most cases result from recessive alleles that are normally found with minority allelic frequency. The use of genetic improvement increases the consanguinity within canine breeds and, on many occasions, also increases the frequency of these recessive alleles, increasing the prevalence of these pathologies. This prevalence has been known for a long time, but mutations differ according to the canine breed. These genetic diseases, including skin diseases, or genodermatosis, which is narrowly defined as monogenic hereditary dermatosis. In this review, we focus on genodermatosis sensu estricto, i.e., monogenic, and hereditary dermatosis, in addition to the clinical features, diagnosis, pathogeny, and treatment. Specifically, this review analyzes epidermolytic and non-epidermolytic ichthyosis, junctional epidermolysis bullosa, nasal parakeratosis, mucinosis, dermoid sinus, among others, in canine breeds, such as Golden Retriever, German Pointer, Australian Shepherd, American Bulldog, Great Dane, Jack Russell Terrier, Labrador Retriever, Shar-Pei, and Rhodesian Ridgeback. MDPI 2022-08-15 /pmc/articles/PMC9412528/ /pubmed/36006348 http://dx.doi.org/10.3390/vetsci9080433 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Marín-García, Pablo Jesús
Llobat, Lola
Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds
title Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds
title_full Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds
title_fullStr Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds
title_full_unstemmed Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds
title_short Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds
title_sort inheritance of monogenic hereditary skin disease and related canine breeds
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9412528/
https://www.ncbi.nlm.nih.gov/pubmed/36006348
http://dx.doi.org/10.3390/vetsci9080433
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