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

作　　者：ZHOU Zhu-ren GONG Li-guo GENG Wen-qing QIU Guang-rong SUN Kai-lai 

机构地区：[1]Department of Medical Genetics, China Medical University, Shenyang, Liaoning 110001, China [2]Key Laboratory of Immunology of AIDS, Ministry of Health, The First Affiliated Hospital, China Medical University, Shenyang, Liaoning 110001, China

出　　处：《Chinese Medical Journal》2008年第8期762-765,共4页中华医学杂志（英文版）

基　　金：This work was supported by the National Natural Science Foundation of China （No.30400485）.

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.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.

关 键 词：TBX5 Holt-Oram syndrome computational biology RNA polymerase Ⅱ 

分 类 号：R596.1[医药卫生—内科学]