Allele Frequency and Likely Impact of the Glycogen Branching Enzyme Deficiency Gene in Quarter Horse and Paint Horse Populations

Wagner, Michelle L.; Valberg, Stephanie J.; Ames, Elizabeth G.; Bauer, Miranda M.; Wiseman, Jeff; Penedo, M. C. T.; Kinde, Hailu; Abbitt, Bruce; Mickelson, James R.

doi:10.1111/j.1939-1676.2006.tb00724.x

Cited by 37 publications

(20 citation statements)

References 18 publications

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“…Glycogen branching enzyme is important for glycogenesis because it catalyzes the formation of branching points in the glycogen molecule. The tissues of affected foals are unable to synthesize normal branched glycogen [11], thereby impairing bioavailability and homeostasis of glucose and promoting the accumulation of abnormal structure and less branched polysaccharide [11][12][13]. In the absence of glycogen, tissues such as the cardiac muscle, renal pelvis, and brain are unable to maintain adequate activity, which in turn leads to death of foals [11,13].…”

Section: Introductionmentioning

confidence: 99%

“…Abortions, stillbirths, and premature births also characterize this disease [4,13]. The frequency of abortions in horses can vary, but abortion and stillbirth are important causes of economic loss [15][16][17][18][19].…”

Section: Introductionmentioning

confidence: 99%

“…In Brazil, this scenario is even worse, and it is estimated that the cause of abortion in horses is unknown in 47.2%-54% of the cases [21,22]. In the United States, 1.3%-3.8% of abortion cases in QHs are caused by GBED [13].…”

Section: Introductionmentioning

confidence: 99%

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Prevalence of the Glycogen Branching Enzyme Deficiency Mutation in Quarter Horses in Brazil

Araújo

Delfiol

Badial

et al. 2018

Journal of Equine Veterinary Science

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Glycogen branching enzyme deficiency (GBED) is a fatal autosomal inherited disease affecting horses and caused by a nonsense mutation (c.102C>A) in the GBE1 gene. This disease strongly impairs the glycogen metabolism of affected animals resulting in abortion or early death of foals. Although understanding the prevalence of heterozygous for GBED is imperative to estimate the impact of the disease, prevalence studies have yet to be performed in Brazil. The aim of this study was to determine the prevalence of heterozygous of the GBED mutation in a population of Quarter Horses in Brazil. Blood samples were obtained from 742 animals competing in distinct disciplines including cutting, halter, race, reining, and barrel racing. All samples were submitted to DNA purification, amplification, and sequencing of the target fragment. The overall GBED prevalence of carriers was 7.95% (59/742). The prevalence of heterozygotes by discipline was considered higher in cutting (19.75% [32/162]) and reining (10% [16/160]) subgroups followed by barrel racing (5% [8/160]) and halter (3% [3/100]) horses. There were none heterozygous in the racing subgroup. These results demonstrate the GBED causative mutation in the Brazilian Quarter Horse herd and suggest the occurrence of the disease. Therefore, GBED is a disease that should be considered in the differential diagnosis of abortion and stillbirths, especially if suspect foals are products of two heterozygous. Besides testing aborted foals for the GBED mutation, the molecular diagnosis should be recommended to owners and breeders, at least for those breeding the at-most-risk subgroups of horses, to guiding their mating selections and, therefore, prevent the transmission of the mutation.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Prevalence of the Glycogen Branching Enzyme Deficiency Mutation in Quarter Horses in Brazil

Araújo

Delfiol

Badial

et al. 2018

Journal of Equine Veterinary Science

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“…Tissue expression profi le analysis was carried out and results revealed that, compared to G3PDH expression, the cattle GBE1 gene was highly expressed in liver, moderately expressed in muscle and fat, weakly expressed in kidney, small intestine, large intestine, heart and lung ( Figure 5). Wagner et al (2006) also had reported a nonsense mutation in codon 34 of the GBE1 gene was associated with the horse Andersen's disease. Therefore, isolation of the coding regions of the GBE1 gene is utmost important to study this kind of disease.…”

Section: Resultsmentioning

confidence: 99%

Molecular identification, sequence analyses, tissue expression profile of a novel cattle gene-GBE1 in Yunnan cattle

Liu

2008

J. Anim. Feed Sci.

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The complete coding sequences of a cattle gene -the glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme), GBE1, was amplifi ed using the reverse transcriptase polymerase chain reaction (RT-PCR) based on the conserved coding sequence information of the human, mouse and highly homologous cattle ESTs. Sequence analysis revealed that cattle GBE1 has high homology with the GBE1 from six species: dog (92%), cat (91%), horse (91%), human (89%), mouse (88%) and rat (88%). The phylogenetic tree analysis revealed that the cattle GBE1 has closer genetic relationships with the GBE1 of dog and cat. Tissue expression profi le analysis revealed that the cattle GBE1 gene was highly expressed in liver, moderately expressed in muscle and fat, weakly expressed in kidney, small intestine, large intestine, heart and lung. Our experiment established the primary foundation for further research on the cattle GBE1 gene.

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“…A more recent study estimated the prevalence of heterozygous carriers at 8.3% in Quarter Horses and 7.1% in Paint Horses, with approximately 2.5% of abortions and early neonatal deaths in 2 sample populations attributed to homozygosity. The authors estimated an annual registration of 16,000 heterozygote carriers and 300 deaths of homozygous foals (Wagner et al 2006). Heterozygous carriers of the GBE1 mutation demonstrate approximately 50% of normal enzyme activity (Valberg et al 2001), but this has not been shown to have adverse effects on the health of these animals.…”

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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Allele Frequency and Likely Impact of the Glycogen Branching Enzyme Deficiency Gene in Quarter Horse and Paint Horse Populations

Cited by 37 publications

References 18 publications

Prevalence of the Glycogen Branching Enzyme Deficiency Mutation in Quarter Horses in Brazil

Prevalence of the Glycogen Branching Enzyme Deficiency Mutation in Quarter Horses in Brazil

Molecular identification, sequence analyses, tissue expression profile of a novel cattle gene-GBE1 in Yunnan cattle

Equine clinical genomics: A clinician's primer

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