Functional implications of C-terminus of TBX5 with high homology to C-terminal domain of yeast DNA-directed RNA polymerase II largest subunit

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	Functional implications of C-terminus of TBX5 with high homology to C-terminal domain of yeast DNA-directed RNA polymerase II largest subunit
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
	Zhou Zhuren; Gong Liguo; Geng Wenqing; Qiu Guangrong; Sun Kailai
	2008
发表期刊	CHINESE MEDICAL JOURNAL
ISSN	0366-6999
卷号	121 期号:8 页码:762-765
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.
其他摘要	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.
关键词	HOLT-ORAM-SYNDROME WW DOMAIN PHOSPHORYLATION PREDICTION MUTATIONS SERVER TBX5 Holt-Oram syndrome computational biology RNA polymerase II
收录类别	CSCD
语种	英语
CSCD记录号	CSCD:3248943
引用统计
文献类型	期刊论文
条目标识符	http://ir.imr.ac.cn/handle/321006/146599
专题	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.