Alternative splicing and promoter use in TFII-I genes.
Alternative splicing and promoter use in TFII-I genes.
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DOI：
10.1016/j.gene.2008.11.027
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发表时间：
2009-03-15
期刊：
影响因子：
3.5
通讯作者：
Bayarsaihan, Dashzeveg
中科院分区：
文献类型：
--
作者：
Makeyev, Aleksandr V.;Bayarsaihan, Dashzeveg
TFII-I蛋白是广泛表达的转录因子，参与基础转录和信号转导激活或抑制。TFII-I蛋白早在两细胞阶段就被检测到，并在发育中的胚胎中表现出独特的动态表达模式，并在成年小鼠脑中标记区域变化。对7q11.23处的非典型小而罕见的染色体缺失的分析指出，TFII-I基因（GTF 2 I和GTF 2 IRD 1）是导致Williams-Beuren综合征颅面和认知异常的主要候选基因。TFII-I基因通常进行选择性剪接，其产生显示不同活性并发挥不同生物学作用的同种型。TFII-I基因编码区由30多个外显子组成，在脊椎动物中高度保守。然而，它们的5′非翻译区并不那么保守，并且都很难表征。在目前的工作中，我们分析了TFII-I基因的启动子区域，并描述了它们的额外外显子，以及测试了先前报道的和新的可变剪接异构体的组织特异性。我们的全面分析导致进一步阐明TFII-I蛋白的功能异质性，提供了寻找调控其表达的途径的线索，并开辟了检查不同单倍型对其启动子功能的影响的可能性。
TFII-I proteins are ubiquitously expressed transcriptional factors involved in both basal transcription and signal transduction activation or repression. TFII-I proteins are detected as early as at two-cell stage and exhibit distinct and dynamic expression patterns in developing embryos as well as mark regional variation in the adult mouse brain. Analysis of atypical small and rare chromosomal deletions at 7q11.23 points to TFII-I genes (GTF2I and GTF2IRD1) as the prime candidates responsible for craniofacial and cognitive abnormalities in the Williams-Beuren syndrome. TFII-I genes are often subjected to alternative splicing, which generates isoforms that that show different activities and play distinct biological roles. The coding regions of TFII-I genes are composed of more than 30 exons and are well conserved among vertebrates. However, their 5′ untranslated regions are not as well conserved and all poorly characterized. In the present work, we analyzed promoter regions of TFII-I genes and described their additional exons, as well as tested tissue specificity of both previously reported and novel alternatively spliced isoforms. Our comprehensive analysis leads to further elucidation of the functional heterogeneity of TFII-I proteins, provides hints on search for regulatory pathways governing their expression, and opens up possibilities for examining the effect of different haplotypes on their promoter functions.
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DOI：
10.1668/0003-1569(2001)041
发表时间：
2001-04-01
期刊：
AMERICAN ZOOLOGIST
影响因子：
--
作者：
Kramer, DL;McLaughlin, RL
通讯作者：
McLaughlin, RL
影响因子：
1.2
作者：
Enkhmandakh, B;Bitchevaia, N;Bayarsaihan, DZ
通讯作者：
Bayarsaihan, DZ
影响因子：
11.4
作者：
Nekrutenko, A;Li, WHS
通讯作者：
Li, WHS
影响因子：
1.2
作者：
Palmer, Stephen J.;Tay, Enoch S. E.;Hardeman, Edna C.
通讯作者：
Hardeman, Edna C.
影响因子：
14.9
作者：
Ji, HK;Zhou, Q;Li, YD
通讯作者：
Li, YD