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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
Alternative TitleFunctional 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
Source PublicationCHINESE MEDICAL JOURNAL
ISSN0366-6999
Volume121Issue:8Pages:762-765
AbstractTBX5, 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.
Other AbstractTBX5, 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.
KeywordHOLT-ORAM-SYNDROME WW DOMAIN PHOSPHORYLATION PREDICTION MUTATIONS SERVER TBX5 Holt-Oram syndrome computational biology RNA polymerase II
Indexed ByCSCD
Language英语
CSCD IDCSCD:3248943
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Document Type期刊论文
Identifierhttp://ir.imr.ac.cn/handle/321006/146599
Collection中国科学院金属研究所
Affiliation中国科学院金属研究所
Recommended Citation
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.
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