Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses

Santschi, Elizabeth M.; Vrotsos, Paul D.; Purdy, Amanda K.; Mickelson, James R.

doi:10.2460/ajvr.2001.62.97

Cited by 42 publications

(31 citation statements)

References 12 publications

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“…[11][12][13][14] Overo horses were further subclassified according to the 3 major genetically distinct overo patterns recognized by the APHA, including frame, splashed white overo, and sabino. 11,15 For 25 years, the person who classified the horses (KGM) has been involved in the evalu-ation of coat color pattern in American Paint Horses. 11,15 For 25 years, the person who classified the horses (KGM) has been involved in the evalu-ation of coat color pattern in American Paint Horses.…”

Section: Methodsmentioning

confidence: 99%

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Evaluation of deafness in American Paint Horses by phenotype, brainstem auditory-evoked responses, and endothelin receptor B genotype

Magdesian¹,

Williams²,

Aleman³

et al. 2009

javma

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Section: Methodsmentioning

confidence: 99%

“…13,15 The genetic mutation causing the most common form of sabino overo, including the form in APHA horses, has been described and named sabino-1. In the heterozygous state, the gene yields the frame overo phenotype.…”

Section: Methodsmentioning

confidence: 99%

Evaluation of deafness in American Paint Horses by phenotype, brainstem auditory-evoked responses, and endothelin receptor B genotype

Magdesian¹,

Williams²,

Aleman³

et al. 2009

javma

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“…Prevalence of the deleterious allele is greatest in overo-type color patterns including frame overo, highly white calico overo and frame blend overo; in one study 94% of animals in these categories were heterozygous for the mutation (Santschi et al 2001). However, carriers have been identified that completely lack white spotting (Santschi et al 2001).…”

Section: Simple Genetic Diseases Of the Domestic Horsementioning

confidence: 97%

“…However, carriers have been identified that completely lack white spotting (Santschi et al 2001). Deafness has been significantly but not absolutely associated with the heterozygous state (Magdesian et al 2009).…”

Section: Simple Genetic Diseases Of the Domestic Horsementioning

confidence: 99%

Equine clinical genomics: A clinician's primer

Brosnahan

Brooks

Antczak³

2010

Equine Veterinary Journal

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Summary The objective of this review is to introduce equine clinicians to the rapidly evolving field of clinical genomics with a vision of improving the health and welfare of the domestic horse. For fifteen years a consortium of veterinary geneticists and clinicians has worked together under the umbrella of The Horse Genome Project. This group, encompassing 22 laboratories in 12 countries, has made rapid progress, developing several iterations of linkage, physical and comparative gene maps of the horse with increasing levels of detail. In early 2006, the research was greatly facilitated when the U.S. National Human Genome Research Institute of the National Institutes of Health added the horse to the list of mammalian species scheduled for whole genome sequencing. The genome of the domestic horse has now been sequenced and is available to researchers worldwide in publicly accessible databases. This achievement creates the potential for transformative change within the horse industry, particularly in the fields of internal medicine, sports medicine and reproduction. The genome sequence has enabled the development of new genome-wide tools and resources for studying inherited diseases of the horse. To date, researchers have identified eleven mutations causing ten clinical syndromes in the horse. Testing is commercially available for all but one of these diseases. Future research will probably identify the genetic bases for other equine diseases, produce new diagnostic tests and generate novel therapeutics for some of these conditions. This will enable equine clinicians to play a critical role in ensuring the thoughtful and appropriate application of this knowledge as they assist clients with breeding and clinical decision-making.

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“…It is believed that white markings and de-pigmentation patterns were favored as a means of both identifying owned individuals and distinguishing them from their wild relatives. Despite the practical usefulness of markings and their aesthetic desirability, pelage de-pigmentation is frequently associated with undesirable side effects, including neurological defects and eye disorders [7], [16]–[19].…”

Section: Introductionmentioning

confidence: 99%

Accumulating Mutations in Series of Haplotypes at the KIT and MITF Loci Are Major Determinants of White Markings in Franches-Montagnes Horses

et al. 2013

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Coat color and pattern variations in domestic animals are frequently inherited as simple monogenic traits, but a number are known to have a complex genetic basis. While the analysis of complex trait data remains a challenge in all species, we can use the reduced haplotypic diversity in domestic animal populations to gain insight into the genomic interactions underlying complex phenotypes. White face and leg markings are examples of complex traits in horses where little is known of the underlying genetics. In this study, Franches-Montagnes (FM) horses were scored for the occurrence of white facial and leg markings using a standardized scoring system. A genome-wide association study (GWAS) was performed for several white patterning traits in 1,077 FM horses. Seven quantitative trait loci (QTL) affecting the white marking score with p-values p≤10−4 were identified. Three loci, MC1R and the known white spotting genes, KIT and MITF, were identified as the major loci underlying the extent of white patterning in this breed. Together, the seven loci explain 54% of the genetic variance in total white marking score, while MITF and KIT alone account for 26%. Although MITF and KIT are the major loci controlling white patterning, their influence varies according to the basic coat color of the horse and the specific body location of the white patterning. Fine mapping across the MITF and KIT loci was used to characterize haplotypes present. Phylogenetic relationships among haplotypes were calculated to assess their selective and evolutionary influences on the extent of white patterning. This novel approach shows that KIT and MITF act in an additive manner and that accumulating mutations at these loci progressively increase the extent of white markings.

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Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses

Cited by 42 publications

References 12 publications

Evaluation of deafness in American Paint Horses by phenotype, brainstem auditory-evoked responses, and endothelin receptor B genotype

Evaluation of deafness in American Paint Horses by phenotype, brainstem auditory-evoked responses, and endothelin receptor B genotype

Equine clinical genomics: A clinician's primer

Accumulating Mutations in Series of Haplotypes at the KIT and MITF Loci Are Major Determinants of White Markings in Franches-Montagnes Horses

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