Identification and characterization of novel human tissue-specific RFX transcription factors.
Identification and characterization of novel human tissue-specific RFX transcription factors.
复制标题
DOI：
10.1186/1471-2148-8-226
复制
发表时间：
2008-08-01
影响因子：
3.4
通讯作者：
Chen N
中科院分区：
文献类型：
--
作者：
Aftab S;Semenec L;Chu JS;Chen N
五个调节因子X（RFX）转录因子（TF）-RFX 1 -5-先前已在人类基因组中被表征，其已被证明对发育至关重要，并且与不断扩大的严重人类疾病病症列表相关，包括主要组织相容性（MHC）II类缺陷和纤毛变性。在这项研究中，我们已经确定了两个额外的RFX基因-RFX 6和RFX 7-在目前的人类基因组序列。RFX 6和RFX 7都被证明是翼螺旋TF，并且具有非常保守的RFX DNA结合结构域（DBD），其也在翼螺旋TF RFX 1 -5中发现。系统发育分析表明，RFX家族在人类基因组中至少经历了3次基因复制，7个人类RFX基因可明确分为3个亚组：（1）RFX 1 -3，（2）RFX 4和RFX 6，（3）RFX 5和RFX 7。我们的功能基因组学分析表明，RFX 6和RFX 7具有不同的表达谱。RFX 6几乎仅在胰岛中表达，而RFX 7在几乎所有检查的组织中，特别是在各种脑组织中具有高度普遍的表达。这两个新RFX基因的鉴定和进一步表征有望获得对哺乳动物发育和许多疾病状况的重要见解，可能导致疾病基因和生物标志物的鉴定。
Five regulatory factor X (RFX) transcription factors (TFs)–RFX1-5–have been previously characterized in the human genome, which have been demonstrated to be critical for development and are associated with an expanding list of serious human disease conditions including major histocompatibility (MHC) class II deficiency and ciliaophathies. In this study, we have identified two additional RFX genes–RFX6 and RFX7–in the current human genome sequences. Both RFX6 and RFX7 are demonstrated to be winged-helix TFs and have well conserved RFX DNA binding domains (DBDs), which are also found in winged-helix TFs RFX1-5. Phylogenetic analysis suggests that the RFX family in the human genome has undergone at least three gene duplications in evolution and the seven human RFX genes can be clearly categorized into three subgroups: (1) RFX1-3, (2) RFX4 and RFX6, and (3) RFX5 and RFX7. Our functional genomics analysis suggests that RFX6 and RFX7 have distinct expression profiles. RFX6 is expressed almost exclusively in the pancreatic islets, while RFX7 has high ubiquitous expression in nearly all tissues examined, particularly in various brain tissues. The identification and further characterization of these two novel RFX genes hold promise for gaining critical insight into development and many disease conditions in mammals, potentially leading to identification of disease genes and biomarkers.
登录
查看更多内容
影响因子：
4.8
作者：
Katan-Khaykovich, Y;Shaul, Y
通讯作者：
Shaul, Y
影响因子：
4.8
作者：
Morotami-Yano, K;Yano, K;Miki, Y
通讯作者：
Miki, Y
影响因子：
7
作者：
Birney, E;Durbin, R
通讯作者：
Durbin, R
影响因子：
14.9
作者：
Chenna, R;Sugawara, H;Thompson, JD
通讯作者：
Thompson, JD
影响因子：
4.6
作者：
Blackshear, PJ;Graves, JP;Zeldin, DC
通讯作者：
Zeldin, DC