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

Genomics. 2011 Feb;97(2):121-9. doi: 10.1016/j.ygeno.2010.11.006. Epub 2010 Nov 30.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cerebellar Diseases / genetics
  • Cerebellar Diseases / pathology
  • Cerebellar Diseases / veterinary*
  • Cerebellum / metabolism
  • Cerebellum / pathology
  • Chromosome Mapping
  • DNA Glycosylases / genetics*
  • GATA2 Transcription Factor / metabolism
  • Gene Expression Regulation*
  • Genetic Association Studies
  • Genetic Linkage
  • Homozygote
  • Horse Diseases / genetics*
  • Horse Diseases / pathology
  • Horses / genetics*
  • Mutation
  • Polymorphism, Single Nucleotide
  • Purkinje Cells / metabolism
  • Purkinje Cells / pathology


  • GATA2 Transcription Factor
  • DNA Glycosylases
  • mutY adenine glycosylase