Allelic mRNA expression of sortilin-1 (SORL1) mRNA in Alzheimer's autopsy brain tissues.
Allelic mRNA expression of sortilin-1 (SORL1) mRNA in Alzheimer's autopsy brain tissues.
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DOI：
10.1016/j.neulet.2008.10.034
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发表时间：
2008-12-19
影响因子：
2.5
通讯作者：
Sadee, Wolfgang
中科院分区：
文献类型：
--
作者：
Alachkar, Houda;Kataki, Maria;Scharre, Douglas W.;Papp, Audrey;Sadee, Wolfgang
参与APP细胞运输的SORL1编码基因的多态被认为与迟发性阿尔茨海默病有关，其机制被认为影响了mRNA的表达。为了寻找调控基因的多态性，我们利用两个同义标记SNP(rs3824968位于外显子34(11个杂合子AD患者和16个对照组)和rs12364988外显子6(8个杂合子AD对象))，检测了26例阿尔茨海默病患者和51名对照组的尸检组织中SORL1的等位基因特异性mRNA的表达。在单个对照受试者中检测到显著的等位基因表达失衡(AEI)，这表明存在顺式作用的调节因子，而所有其他受试者的等位基因比率几乎相同。我们在两个单倍型块中对7个SNPs进行了基因分型，这两个单倍型块以前与阿尔茨海默病有关。由于这些SNP中的每一个在几个缺乏AEI的受试者中都是杂合子，这项研究未能支持SORL1基因多态在mRNA表达中的调节作用。
Polymorphisms in the gene encoding SORL1, involved in cellular trafficking of APP, have been implicated in late-onset Alzheimer’s disease, by a mechanism thought to affect mRNA expression. To search for regulatory polymorphisms, we have measured allele-specific mRNA expression of SORL1 in human autopsy tissues from the prefrontal cortex of 26 Alzheimer’s patients, and 51 controls, using two synonymous marker SNPs (rs3824968 in exon 34 (11 heterozygous AD subjects and 16 controls), and rs12364988 in exon 6 (8 heterozygous AD subjects)). Significant allelic expression imbalance (AEI), indicative of the presence of cis-acting regulatory factors, was detected in a single control subject, while allelic ratios were near unity for all other subjects. We genotyped 7 SNPs in two haplotype blocks that had previously been implicated in Alzheimer’s disease. Since each of these SNPs was heterozygous in several subjects lacking AEI, this study fails to support a regulatory role for SORL1 polymorphisms in mRNA expression.
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