Variation in MUTYH expression in Arabian horses with Cerebellar Abiotrophy

Brain Research
E Y ScottJames D Murray

Abstract

Cerebellar Abiotrophy (CA) is a neurodegenerative disease in Arabian horses affecting the cerebellum, more specifically the Purkinje neurons. Although CA occurs in several domestic species, CA in Arabian horses is unique in that a single nucleotide polymorphism (SNP) has been associated with the disease. Total RNA sequencing (RNA-seq) was performed on CA-affected horses to address the molecular mechanism underlying the disease. This research expands upon the RNA-seq work by measuring the impact of the CA-associated SNP on the candidate gene MutY homolog (MUTYH) and its regulation, isoform-specific expression and protein localization. We hypothesized that the CA-associated SNP compromises the promoter region of MUTYH, leading to differential expression of its isoforms. Our research demonstrates that the CA-associated SNP introduces a new binding site for a novel transcription factor (Myelin Transcription Factor-1 Like protein, MYT1L). In addition, CA-affected horses show differential expression of a specific isoform of MUTYH as well as different localization in the Purkinje and granular neurons of the cerebellum.

Citations

Jan 3, 2018·The Cerebellum·Erica Yuki ScottJames D Murray
Apr 9, 2019·The Journal of Veterinary Medical Science·Marianthi IoannidisMitsuru Kuwamura
Jul 14, 2020·The Veterinary Clinics of North America. Equine Practice·Lisa Edwards, Carrie J Finno

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