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Marker-Assisted Selection in the Equine
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Marker-Assisted Selection in the Equine

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Animal Genetics and Genomics".

Deadline for manuscript submissions: closed (20 February 2021) | Viewed by 13431

Special Issue Editor

Dr. Sofia Mikko

E-Mail Website
Guest Editor
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, S-750 07 Uppsala, Sweden
Interests: horse; genetics; genomics; breeding; congenital diseases; performance; population and evolutionary genetics

Special Issue Information

Dear Colleagues,

Ever since the horse was domesticated some 6000 years ago, humans have selected and bred horses with highly valued and desirable traits. The selection of various traits has led to an extensive breed diversity, with distinct breed specialties in around 350 horse and about 80 pony breeds. They all exhibit large differences in, for example, selection pressure, effective population size, or inbreeding level. While some of the modern breeds run the risk of losing their genomic diversity, due to strong selection pressure, it becomes even more important to keep the genomic diversity reservoir of native breeds for potential future needs.

Studies of equine genetics and genomics provide possibilities to track down existing diversity, risk of inbreeding, as well as discovery of mutations causing different traits and diseases. Since the release of the first equine genomic trace files in 2007, around 100 causative or possibly causative mutations of mendelian traits and disorders have been discovered in the horse. Still, there are numerous equine characteristics and disorders with an unknown genetic background. With the high-throughput genetic and genomic techniques available today, the research community has the possibility to also unravel regulatory or structural genomic variation, potentially causing complex and multivariate equine phenotypes. More knowledge about molecular genetic and/or genomic mutations and variations could assist horse breeders in how to use marker-assisted selection or genomic evaluation to produce highly-performing but still healthy and sustainable horses.

Dr. Sofia Mikko
Guest Editor

Manuscript Submission Information

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Keywords

  • horse
  • genetics and genomics
  • congenital disorders and traits
  • complex and multivariate phenotypes
  • diversity
  • health and sustainability

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Published Papers (2 papers)

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Research

11 pages, 5743 KiB  
Article
Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States
by Simone Reiter, Barbara Wallner, Gottfried Brem, Elisabeth Haring, Ludwig Hoelzle, Monika Stefaniuk-Szmukier, Bogusława Długosz, Katarzyna Piórkowska, Katarzyna Ropka-Molik, Julia Malvick, Maria Cecilia T. Penedo and Rebecca R. Bellone
Genes 2020, 11(12), 1518; https://doi.org/10.3390/genes11121518 - 18 Dec 2020
Cited by 12 | Viewed by 7273
Abstract
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Marker-Assisted Selection in the Equine)
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10 pages, 1267 KiB  
Article
DDB2 Genetic Risk Factor for Ocular Squamous Cell Carcinoma Identified in Three Additional Horse Breeds
by Margo Crausaz, Thomas Launois, Kathryn Smith-Fleming, Annette M. McCoy, Kelly E. Knickelbein and Rebecca R. Bellone
Genes 2020, 11(12), 1460; https://doi.org/10.3390/genes11121460 - 5 Dec 2020
Cited by 9 | Viewed by 5329
Abstract
Squamous cell carcinoma (SCC) is the most common cancer affecting the equine eye. A missense variant within the gene damage-specific DNA binding protein 2 (DDB2 c.1013C>T, p.Thr338Met) was previously identified as a causal recessive genetic risk factor for the development of [...] Read more.
Squamous cell carcinoma (SCC) is the most common cancer affecting the equine eye. A missense variant within the gene damage-specific DNA binding protein 2 (DDB2 c.1013C>T, p.Thr338Met) was previously identified as a causal recessive genetic risk factor for the development of ocular SCC within Haflingers, Belgian Draft horses, and Rocky Mountain Horses, but not in the Appaloosa or Arabian breeds. This study aimed to evaluate three cases of ocular SCC in additional breeds and determine if DNA testing for the DDB2 variant in warmblood horses and Connemara ponies is warranted. Histopathology confirmed ocular SCC in all three cases and DNA testing confirmed each horse was homozygous for the DDB2 risk factor. The DDB2 risk allele frequency was estimated to be 0.0043 for Holsteiners (N = 115), 0.014 for Belgian Warmbloods (N = 71), and 0.22 for Connemara Ponies (N = 86). Taken together these data support using DNA testing for DDB2 in Connemara Ponies to assist in mate selection and clinical management. Given the low observed allele frequencies in both the Holsteiner and Belgian Warmblood breeds and that the case under investigation was a warmblood cross-bred, evaluating additional SCC affected warmbloods is warranted to fully determine the importance of DDB2 genotyping as a risk factor in warmblood breeds. Full article
(This article belongs to the Special Issue Marker-Assisted Selection in the Equine)
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