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Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date...

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Autores principales: Reiter, Simone, Wallner, Barbara, Brem, Gottfried, Haring, Elisabeth, Hoelzle, Ludwig, Stefaniuk-Szmukier, Monika, Długosz, Bogusława, Piórkowska, Katarzyna, Ropka-Molik, Katarzyna, Malvick, Julia, Penedo, Maria Cecilia T., Bellone, Rebecca R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7766603/
https://www.ncbi.nlm.nih.gov/pubmed/33353040
http://dx.doi.org/10.3390/genes11121518
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author Reiter, Simone
Wallner, Barbara
Brem, Gottfried
Haring, Elisabeth
Hoelzle, Ludwig
Stefaniuk-Szmukier, Monika
Długosz, Bogusława
Piórkowska, Katarzyna
Ropka-Molik, Katarzyna
Malvick, Julia
Penedo, Maria Cecilia T.
Bellone, Rebecca R.
author_facet Reiter, Simone
Wallner, Barbara
Brem, Gottfried
Haring, Elisabeth
Hoelzle, Ludwig
Stefaniuk-Szmukier, Monika
Długosz, Bogusława
Piórkowska, Katarzyna
Ropka-Molik, Katarzyna
Malvick, Julia
Penedo, Maria Cecilia T.
Bellone, Rebecca R.
author_sort Reiter, Simone
collection PubMed
description Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date only been reported in warmblood breeds but the WFFS allele has been also detected in the Thoroughbred. To investigate the breed distribution of the WFFS allele, 4081 horses belonging to 38 different breeds were screened. In total, 4.9% of the horses representing 21 breeds carried the WFFS allele. The affected breeds were mainly warmbloods, with carrier frequency as high as 17% in the Hanoverian and Danish Warmblood. The WFFS allele was not detected in most non-warmblood breeds. Exceptions include WFFS carriers in the Thoroughbred (17/716), Haflinger (2/48), American Sport Pony (1/12), and Knabstrupper (3/46). The origin of the WFFS allele remains unknown. The Arabian breed and specifically the stallion Bairactar Or. Ar. (1813), whose offspring were reported to have a similar phenotype in the 19th century, were hypothesized as the origin. DNA from a museum sample of Bairactar Or. Ar. showed that he did not carry the mutated allele. This result, together with the genotypes of 302 Arabians, all homozygous for the reference allele, does not support an Arabian origin of the WFFS allele. Our extensive survey shows the WFFS allele to be of moderate frequency and concern in warmbloods and also in breeds where it may not be expected.
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spelling pubmed-77666032020-12-28 Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States Reiter, Simone Wallner, Barbara Brem, Gottfried Haring, Elisabeth Hoelzle, Ludwig Stefaniuk-Szmukier, Monika Długosz, Bogusława Piórkowska, Katarzyna Ropka-Molik, Katarzyna Malvick, Julia Penedo, Maria Cecilia T. Bellone, Rebecca R. Genes (Basel) Article Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date only been reported in warmblood breeds but the WFFS allele has been also detected in the Thoroughbred. To investigate the breed distribution of the WFFS allele, 4081 horses belonging to 38 different breeds were screened. In total, 4.9% of the horses representing 21 breeds carried the WFFS allele. The affected breeds were mainly warmbloods, with carrier frequency as high as 17% in the Hanoverian and Danish Warmblood. The WFFS allele was not detected in most non-warmblood breeds. Exceptions include WFFS carriers in the Thoroughbred (17/716), Haflinger (2/48), American Sport Pony (1/12), and Knabstrupper (3/46). The origin of the WFFS allele remains unknown. The Arabian breed and specifically the stallion Bairactar Or. Ar. (1813), whose offspring were reported to have a similar phenotype in the 19th century, were hypothesized as the origin. DNA from a museum sample of Bairactar Or. Ar. showed that he did not carry the mutated allele. This result, together with the genotypes of 302 Arabians, all homozygous for the reference allele, does not support an Arabian origin of the WFFS allele. Our extensive survey shows the WFFS allele to be of moderate frequency and concern in warmbloods and also in breeds where it may not be expected. MDPI 2020-12-18 /pmc/articles/PMC7766603/ /pubmed/33353040 http://dx.doi.org/10.3390/genes11121518 Text en © 2020 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Reiter, Simone
Wallner, Barbara
Brem, Gottfried
Haring, Elisabeth
Hoelzle, Ludwig
Stefaniuk-Szmukier, Monika
Długosz, Bogusława
Piórkowska, Katarzyna
Ropka-Molik, Katarzyna
Malvick, Julia
Penedo, Maria Cecilia T.
Bellone, Rebecca R.
Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States
title Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States
title_full Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States
title_fullStr Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States
title_full_unstemmed Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States
title_short Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States
title_sort distribution of the warmblood fragile foal syndrome type 1 mutation (plod1 c.2032g>a) in different horse breeds from europe and the united states
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7766603/
https://www.ncbi.nlm.nih.gov/pubmed/33353040
http://dx.doi.org/10.3390/genes11121518
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