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首页> 外文期刊>Genomics >Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd).
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Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd).

机译：STK38L中插入Exonic SINE会导致犬早期视网膜变性（erd）。

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摘要

Fine mapping followed by candidate gene analysis of erd - a canine hereditary retinal degeneration characterized by aberrant photoreceptor development - established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is predicted to remove much of the N terminus from the translated protein, including binding sites for S100B and Mob proteins, part of the protein kinase domain, and a Thr-75 residue critical for autophosphorylation. Although known to have roles in neuronal cell function, the STK38L pathway has not previously been implicated in normal or abnormal photoreceptor development. Loss of STK38L function in erd provides novel potential insights into the role of the STK38L pathway in neuronal and photoreceptor cell function, and suggests that genes in this pathway need to be considered as candidate genes for hereditary retinal degenerations.
机译：精细作图，然后进行erd候选基因分析-erd遗传性视网膜变性，特征在于异常的感光细胞发育-确定该疾病与SST插入犬STK38L / NDR2基因第4外显子共分离。该突变可从STK38L转录物中去除外显子4，并有望从翻译的蛋白中去除大部分N端，包括S100B和Mob蛋白的结合位点，部分蛋白激酶结构域以及对自磷酸化至关重要的Thr-75残基。尽管已知在神经元细胞功能中起作用，但STK38L途径先前并未涉及正常或异常的感光细胞发育。 erd中STK38L功能的丧失为STK38L途径在神经元和感光细胞功能中的作用提供了新的潜在见解，并表明该途径中的基因需要被视为遗传性视网膜变性的候选基因。

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