Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH

Leah S. Brault, Caitlin A. Cooper, Thomas R. Famula, James D. Murray, Cecilia Penedo

Research output: Contribution to journalArticle

27 Scopus citations

Abstract

Equine Cerebellar Abiotrophy (CA) is a neurological disease found in Arabian horses. CA is characterized by post-natal degeneration of the Purkinje cells of the cerebellum. Signs of CA include ataxia, head tremors, and a lack of balance equilibrium. We have discovered a linkage of the CA phenotype to a microsatellite marker on ECA2 and identified a region of conserved homozygosity spanning approximately 142. kb. Complete sequencing of the four genes in this region identified one SNP found only in Arabian horses, located in exon 4 of TOE1 and approximately 1200 base pairs upstream of MUTYH, adjacent to a possible binding site for the transcription factor GATA2. qPCR analysis of cDNA from the cerebella of affected and unaffected horses suggested that MUTYH expression is down-regulated in affected horses. This SNP may therefore have a function effect on TOE1, or a regulatory effect on MUTYH by negatively affecting the binding affinity of GATA2.

Original languageEnglish (US)
Pages (from-to)121-129
Number of pages9
JournalGenomics
Volume97
Issue number2
DOIs
StatePublished - Feb 1 2011

Keywords

  • Abiotrophy
  • Ataxia
  • Cerebellum
  • Horse
  • Neurodegenerative
  • Purkinje

ASJC Scopus subject areas

  • Genetics

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