BEND3 is involved in the human-specific repression of calreticulin: Implication for the evolution of higher brain functions in human
BEND3 is involved in the human-specific repression of calreticulin: Implication for the evolution of higher brain functions in human
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DOI：
10.1016/j.gene.2015.10.040
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发表时间：
2016-01-15
期刊：
影响因子：
3.5
通讯作者：
Ohadi, M.
中科院分区：
文献类型：
--
作者：
Aghajanirefah, A.;Nguyen, L. N.;Ohadi, M.
最近出现的证据表明，基因表达水平的变化与人类进化有关。我们以前曾报道过在钙网蛋白（CALR）基因启动子序列的位置-220 C，这是丙戊酸的作用位点的人类特异性核苷酸。在具有较高大脑认知功能缺陷程度的患者中，已经检测到这种核苷酸向祖先A等位基因的逆转。此后，1000个基因组数据库中报告了这种突变，频率约为
Recent emerging evidence indicates that changes in gene expression levels are linked to human evolution. We have previously reported a human-specific nucleotide in the promoter sequence of the calreticulin (CALR) gene at position -220C, which is the site of action of valproic acid. Reversion of this nucleotide to the ancestral A-allele has been detected in patients with degrees of deficit in higher brain cognitive functions. This mutation has since been reported in the 1000 genomes database at an approximate frequency of