Genetic alterations of δ-catenin/NPRAP/Neurojungin (CTNND2): functional implications in complex human diseases.
Genetic alterations of δ-catenin/NPRAP/Neurojungin (CTNND2): functional implications in complex human diseases.
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DOI：
10.1007/s00439-016-1705-3
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发表时间：
2016-10
期刊：
影响因子：
5.3
通讯作者：
Chen, Yan-Hua
中科院分区：
文献类型：
--
作者：
Lu, Qun;Aguilar, Byron J.;Li, Mingchuan;Jiang, Yongguang;Chen, Yan-Hua
一些涉及复杂人类疾病的基因特别容易受到遗传变异的影响，如单核苷酸多态性、拷贝数变异和突变。Ras突变占所有人类癌症的30%以上。此外，还有一些基因可以在不同的疾病中表现出不同的变异，并对无关的疾病产生功能影响。一个这样的基因脱颖而出：δ-catenin/NPRAP/Neurojungin，基因命名为CTNND 2，位于染色体5p15.2上。全基因组关联以及分子生物学方法的最新进展已经揭示了与复杂人类疾病相关的δ-连环蛋白基因变异的惊人参与。这些疾病包括癌症、双相情感障碍、精神分裂症、自闭症、Cri-du-chat综合征、近视、皮质性白内障相关的阿尔茨海默病和传染病。近年来，这一名单迅速增长，强调了δ-连环蛋白在重大人类疾病中的关键作用。δ-连环蛋白是β-连环蛋白超家族的δ亚家族中的粘附连接相关蛋白。δ-连环蛋白在Wnt信号传导中起作用，以调节基因表达并调节细胞骨架重组中Ras超家族的Rho GTP酶。δ-连环蛋白可能位于Wnt信号传导与Rho GTP酶相遇的地方，并且是不同人类疾病中诱变的独特且脆弱的共同靶标。
Some genes involved in complex human diseases are particularly vulnerable to genetic variations such as single nucleotide polymorphism, copy number variations, and mutations. For example, Ras mutations account for over 30% of all human cancers. Additionally, there are some genes that can display different variations with functional impact in different diseases that are unrelated. One such gene stands out: δ-catenin/NPRAP/Neurojungin with gene designation as CTNND2 on chromosome 5p15.2. Recent advances in genome wide association as well as molecular biology approaches have uncovered striking involvement of δ-catenin gene variations linked to complex human disorders. These disorders include cancer, bipolar disorder, schizophrenia, autism, Cri-du-chat syndrome, myopia, cortical cataract-linked Alzheimer’s disease, and infectious diseases. This list has rapidly grown longer in recent years, underscoring the pivotal roles of δ-catenin in critical human diseases. δ-Catenin is an adhesive junction-associated protein in the delta subfamily of the β-catenin superfamily. δ-Catenin functions in Wnt signaling to regulate gene expression and modulate Rho GTPases of the Ras superfamily in cytoskeletal reorganization. δ-Catenin likely lies where Wnt signaling meets Rho GTPases and is a unique and vulnerable common target for mutagenesis in different human diseases.
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DOI：
10.1006/bbrc.1999.0364
发表时间：
1999-03-24
影响因子：
3.1
作者：
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