Functional implications of C-terminus of TBX5 with high homology to C-terminal domain of yeast DNA-directed RNA polymerase II largest subunit
文献类型：期刊论文
| 作者 | Zhou Zhuren; Gong Liguo; Geng Wenqing; Qiu Guangrong; Sun Kailai |
| 刊名 | CHINESE MEDICAL JOURNAL
 |
| 出版日期 | 2008 |
| 卷号 | 121期号:8页码:762-765 |
| 关键词 | HOLT-ORAM-SYNDROME WW DOMAIN PHOSPHORYLATION PREDICTION MUTATIONS SERVER TBX5 Holt-Oram syndrome computational biology RNA polymerase II |
| ISSN号 | 0366-6999 |
| 其他题名 | Functional implications of C-terminus of TBX5 with high homology to C-terminal domain of yeast DNA-directed RNA polymerase II largest subunit |
| 英文摘要 | TBX5, as a member of the T-box-containing transcription factor family, encodes a protein of 518 amino acids and is expressed in the embryonic heart and developing limb tissues.1 The coding region of TBX5 cDNA is 1.5 kb with eight exons including the N-terminal portion, the DNA binding domain and C-terminal region. We reported that the abnormality in transcription level of the TBX5 gene might be the mechanism underlying human simple congenital heart disease in the absence of TBX5 mutations.2 So far, over 37 mutations in the TBX5 gene have been identified in patients with Holt-Oram syndrome,3 an autosomal dominant condition characterized by congenital cardiac malformations and upper limb anomalies. G80R, R237Q and R237W mutations reduce the TBX5 DNA-binding ability with target genes, leading to decreased transcriptional activation of TBX5 target genes and a loss of synergistic transcriptional activation with NKx2-5.4 In contrast, the molecular mechanism by which most TBX5 mutations at the C-terminal region cause Holt-Oram syndrome remains unclear. Moreover, the mechanism underlying the transactivation by the C-terminus of TBX5 is largely unknown. Thus, the sequence-based study of the C-terminus of TBX5 is needed for a better understanding of the molecular mechanism underlying TBX5 mutation-related Holt-Oram syndrome and of TBX5 function as a transcriptional activator. |
| 语种 | 英语 |
| CSCD记录号 | CSCD:3248943 |
| 源URL | [http://ir.imr.ac.cn/handle/321006/146598]  |
| 专题 | 金属研究所_中国科学院金属研究所 |
| 作者单位 | 中国科学院金属研究所 |
| 推荐引用方式 GB/T 7714 | Zhou Zhuren,Gong Liguo,Geng Wenqing,et al. Functional implications of C-terminus of TBX5 with high homology to C-terminal domain of yeast DNA-directed RNA polymerase II largest subunit[J]. CHINESE MEDICAL JOURNAL,2008,121(8):762-765. |
| APA | Zhou Zhuren,Gong Liguo,Geng Wenqing,Qiu Guangrong,&Sun Kailai.(2008).Functional implications of C-terminus of TBX5 with high homology to C-terminal domain of yeast DNA-directed RNA polymerase II largest subunit.CHINESE MEDICAL JOURNAL,121(8),762-765. |
| MLA | Zhou Zhuren,et al."Functional implications of C-terminus of TBX5 with high homology to C-terminal domain of yeast DNA-directed RNA polymerase II largest subunit".CHINESE MEDICAL JOURNAL 121.8(2008):762-765. |
入库方式： OAI收割
来源：金属研究所
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