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.
journal_name
Genomicsjournal_title
Genomicsauthors
Brault LS,Cooper CA,Famula TR,Murray JD,Penedo MCdoi
10.1016/j.ygeno.2010.11.006subject
Has Abstractpub_date
2011-02-01 00:00:00pages
121-9issue
2eissn
0888-7543issn
1089-8646pii
S0888-7543(10)00243-0journal_volume
97pub_type
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