Dataset Information

Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome.

ABSTRACT: Lavender Foal Syndrome (LFS) is a lethal inherited disease of horses with a suspected autosomal recessive mode of inheritance. LFS has been primarily diagnosed in a subgroup of the Arabian breed, the Egyptian Arabian horse. The condition is characterized by multiple neurological abnormalities and a dilute coat color. Candidate genes based on comparative phenotypes in mice and humans include the ras-associated protein RAB27a (RAB27A) and myosin Va (MYO5A). Here we report mapping of the locus responsible for LFS using a small set of 36 horses segregating for LFS. These horses were genotyped using a newly available single nucleotide polymorphism (SNP) chip containing 56,402 discriminatory elements. The whole genome scan identified an associated region containing these two functional candidate genes. Exon sequencing of the MYO5A gene from an affected foal revealed a single base deletion in exon 30 that changes the reading frame and introduces a premature stop codon. A PCR-based Restriction Fragment Length Polymorphism (PCR-RFLP) assay was designed and used to investigate the frequency of the mutant gene. All affected horses tested were homozygous for this mutation. Heterozygous carriers were detected in high frequency in families segregating for this trait, and the frequency of carriers in unrelated Egyptian Arabians was 10.3%. The mapping and discovery of the LFS mutation represents the first successful use of whole-genome SNP scanning in the horse for any trait. The RFLP assay can be used to assist breeders in avoiding carrier-to-carrier matings and thus in preventing the birth of affected foals.

SUBMITTER: Brooks SA

PROVIDER: S-EPMC2855325 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature

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Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome.

Brooks Samantha A SA Gabreski Nicole N Miller Donald D Brisbin Abra A Brown Helen E HE Streeter Cassandra C Mezey Jason J Cook Deborah D Antczak Douglas F DF

PLoS genetics 20100415 4

Lavender Foal Syndrome (LFS) is a lethal inherited disease of horses with a suspected autosomal recessive mode of inheritance. LFS has been primarily diagnosed in a subgroup of the Arabian breed, the Egyptian Arabian horse. The condition is characterized by multiple neurological abnormalities and a dilute coat color. Candidate genes based on comparative phenotypes in mice and humans include the ras-associated protein RAB27a (RAB27A) and myosin Va (MYO5A). Here we report mapping of the locus resp ...[more]

PMID: 20419149

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Project description:Awareness of breeders of Warmblood Fragile Foal Syndrome (WFFS) increased after a widely discussed case in the USA in 2018. The hereditary connective tissue disorder, first described by a US research group in 2011 and for which a commercial genetic test exists since 2013, is caused by a point mutation in the PLOD1 gene, inherited autosomal recessively. Extension of molecular genetic testing and reporting of test results of organized horse breeders to their studbooks implies new opportunities for analyses. In Germany, data are centrally accessible through the integrated equine data base allowing comprehensive and population-wide investigation of the role of WFFS. The objective of this study was statistical testing for associations between WFFS and reproductive performance of German riding horses and quantifying possible differences between WFFS carriers and non-carriers, also in respect of performance traits. For this purpose, covering data from 2008 to 2020 were provided by ten German studbooks, so almost 400,000 coverings and resulting foaling rates were available for multiple analyses of variance with general and mixed linear models using procedures GLM, MIXED and HPMIXED of SAS software (version 9.2). Published breeding values of stallions were used for respective comparisons of riding horse performance. Assuming a WFFS carrier frequency of 9.5-15.0% in Warmblood horses, Hardy Weinberg principle implied an expected difference of 2.4-3.7% in the foaling rates of carrier and non-carrier stallions. Our results provided statistical evidence of detrimental effects of WFFS on the reproductive performance of Warmblood horses with about 2.7% lower average foaling rate in carriers of the mutant allele than in WFFS free sires, if mated to an average mare population. Indications of favorable dressage performance of WFFS carriers were found. Reported WFFS cases indicate only the tip of the iceberg and assessing the impact of WFFS on reproduction requires consideration of premature foal losses.

Dataset Information

Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome.

Publications

Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome.

Similar Datasets

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