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首页> 外文期刊>Genomics >Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH.
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Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH.

机译：马小脑生物肥大到ECA2的映射，并确定影响MUTYH表达的潜在致病突变。

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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.
机译：马小脑生物营养不良（CA）是一种在阿拉伯马匹中发现的神经系统疾病。 CA的特征是出生后小脑的浦肯野细胞变性。 CA的迹象包括共济失调，头部震颤和缺乏平衡平衡。我们发现了CA表型与ECA2上的微卫星标记的联系，并确定了一个保守的纯合性区域，跨度约为142 kb。该区域中四个基因的完整测序确定了一个仅在阿拉伯马中发现的SNP，该阿拉伯马位于TOE1外显子4和MUTYH上游约1200个碱基对，与转录因子GATA2的可能结合位点相邻。对受影响和未受影响的马的小脑的cDNA的qPCR分析表明，MUTYH表达在受影响的马中被下调。因此，该SNP可能通过负面影响GATA2的结合亲和力而对TOE1发挥功能作用，或对MUTYH产生调节作用。

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