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Genetic analysis of juvenile spastic paresis in Romagnola cattle
Jacinto, J. G. P., Häfliger, I. M...
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Objectives
Bovine spastic paresis (BSP) is a juvenile-onset neuromuscular disorder that affects males and females occurring in various breeds of cattle. Clinically BSP is characterized by overextension of the gastrocnemius muscle causing a “straight hock” with an increase of the tibiotarsal angle of one or both hind limbs. Signs of BSP usually appear at the age of 3 to 8 months, although the disorder can be observed also earlier or later in life. BSP is usually associated to retarded growth, especially when animals experience difficulties in maintaining stance, spending considerable amount of time in recumbency and therefore are disabled to frequent access to food. Although the disease has been known for decades, it has not been possible so far to arrive to a definitive conclusion about the pathogenesis and etiology. Italian Romagnola cattle show a concerning prevalence for BSP that was estimated of 0.6% in 2002. As the occurrence of BSP is supposed to be genetically determined, we performed DNA-based molecular genetic analyses to unravel the underlying genetics causing this disorder in Romagnola cattle.
Materials and methods
We collected EDTA blood samples of 35 affected animals ranging from 1 to 21 month-old (median of 7 month-old). These 35 cases were clinically diagnosed with BSP severity grades ranging from 2 to 4 (median 3.5). A genome-wide association study (GWAS) was performed using high-density 777k SNP arrray genotyping data of the 35 BSP-affected and 32 controls. In addition, whole-genome sequencing (WGS) using the Illumina NovaSeq6000 was performed using DNA extracted of 6 BSP-affected Romagnola cattle. The obtained sequence reads were mapped to the ARS‐UCD1.2 bovine genome assembly.
Results and Conclusions
Pedigree data of the collected BSP-affected Romagnola was not indicating a simple Mendelian inheritance. Preliminary GWAS results show no genome-wide significant association signal, although some regions with suggestive hits could be identified. No shared single-nucleotide variants (SNV) with predicted effect on the coding sequence could be detected on the six sequenced cases when compared with more than 500 control genomes of other unrelated breeds. These results indicate a more complex inheritance most likely due to regulatory mutations affecting several genes at different regions of the genome. Interestingly, human hyperekplexia shows similar clinical signs to BSP and it is supposed to be caused by mutations encoding glycerin proteins supporting our hypothesis of a possible genetic cause. Apart animal welfare issues and the economic impact in cattle production, BSP may therefore also constitute a model for comparative and translational medicine.
Keywords: "spastic paresis" "cattle" "Inherited diseases"
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