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本文引用的文献

1
Screening of three novel candidate genes in arrhythmogenic right ventricular cardiomyopathy.致心律失常性右室心肌病中三个新型候选基因的筛查
Genet Test Mol Biomarkers. 2011 Apr;15(4):267-71. doi: 10.1089/gtmb.2010.0151. Epub 2011 Jan 22.
2
The STOX1 genotype associated with pre-eclampsia leads to a reduction of trophoblast invasion by alpha-T-catenin upregulation.与子痫前期相关的 STOX1 基因型通过上调α-T 连环蛋白导致滋养细胞侵袭减少。
Hum Mol Genet. 2010 Jul 1;19(13):2658-67. doi: 10.1093/hmg/ddq152. Epub 2010 Apr 16.
3
An unbiased expression screen for synaptogenic proteins identifies the LRRTM protein family as synaptic organizers.一项针对促突触形成蛋白的无偏表达筛选将LRRTM蛋白家族鉴定为突触组织者。
Neuron. 2009 Mar 12;61(5):734-49. doi: 10.1016/j.neuron.2009.01.017.
4
Nested genes and increasing organizational complexity of metazoan genomes.嵌套基因与后生动物基因组不断增加的组织复杂性。
Trends Genet. 2008 Oct;24(10):475-8. doi: 10.1016/j.tig.2008.08.003. Epub 2008 Sep 5.
5
Non-random retention of protein-coding overlapping genes in Metazoa.后生动物中蛋白质编码重叠基因的非随机保留
BMC Genomics. 2008 Apr 16;9:174. doi: 10.1186/1471-2164-9-174.
6
A new class of tissue-specifically methylated regions involving entire CpG islands in the mouse.一类涉及小鼠中整个CpG岛的组织特异性甲基化区域。
Genes Cells. 2007 Dec;12(12):1305-14. doi: 10.1111/j.1365-2443.2007.01136.x.
7
Genetic association of CTNNA3 with late-onset Alzheimer's disease in females.CTNNA3与女性晚发型阿尔茨海默病的遗传关联。
Hum Mol Genet. 2007 Dec 1;16(23):2854-69. doi: 10.1093/hmg/ddm244. Epub 2007 Aug 30.
8
Chromosome fragile sites.染色体脆性位点
Annu Rev Genet. 2007;41:169-92. doi: 10.1146/annurev.genet.41.042007.165900.
9
A unique and specific interaction between alphaT-catenin and plakophilin-2 in the area composita, the mixed-type junctional structure of cardiac intercalated discs.αT-连环蛋白与桥粒芯蛋白-2在复合区（心脏闰盘的混合型连接结构）存在独特而特定的相互作用。
J Cell Sci. 2007 Jun 15;120(Pt 12):2126-36. doi: 10.1242/jcs.004713. Epub 2007 May 29.
10
Alpha-T-catenin (CTNNA3) displays tumour specific monoallelic expression in urothelial carcinoma of the bladder.α-T-连环蛋白（CTNNA3）在膀胱尿路上皮癌中表现出肿瘤特异性单等位基因表达。
Genes Chromosomes Cancer. 2007 Jun;46(6):587-93. doi: 10.1002/gcc.20443.

α-连环蛋白（CTNNA3）：手中的一个基因胜过巢中的两个。

Alpha T-catenin (CTNNA3): a gene in the hand is worth two in the nest.

机构信息

UCD Conway Institute of Biomolecular and Biomedical Research, University College Dublin (UCD), Belfield, Dublin 4, Ireland.

出版信息

Cell Mol Life Sci. 2011 Aug;68(15):2493-8. doi: 10.1007/s00018-011-0728-0. Epub 2011 May 20.

DOI:10.1007/s00018-011-0728-0
PMID:21598020
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11114981/
Abstract

Alpha-T-Catenin (CTNNA3) is a key protein of the adherens junctional complex in epithelial cells playing a crucial role in cellular adherence. What makes this gene particularly interesting is that it is located within a common fragile site, is epigenetically regulated, is transcribed through multiple promoters, and generates a variety of alternate transcripts. Finally, CTNNA3 has a nested gene (LRTMM3) embedded within its genomic context transcribed in the opposite direction. Apart from the complexity of its regulation, alterations in both CTNNA3 and LRTMM3 are implicated in human disease.

摘要

α-连环蛋白（CTNNA3）是上皮细胞黏着连接复合体的关键蛋白，在细胞黏附中起关键作用。使这个基因特别有趣的是，它位于常见的脆性位点内，受表观遗传调控，通过多个启动子转录，并产生多种替代转录本。最后，CTNNA3 有一个嵌套基因（LRTMM3）嵌入其基因组中，以相反的方向转录。除了其调控的复杂性之外，CTNNA3 和 LRTMM3 的改变都与人类疾病有关。