Identification and characterization of the human long form of Sox5 (L-SOX5) gene
Identification and characterization of the human long form of Sox5 (L-SOX5) gene
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DOI：
10.1016/s0378-1119(02)00927-7
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发表时间：
2002-09-18
期刊：
影响因子：
3.5
通讯作者：
Ikegawa, S
中科院分区：
文献类型：
--
作者：
Ikeda, T;Zhang, JW;Ikegawa, S
SOX(Sry-type HMG box)转录因子组。它由高迁移率基团(HMG)DNA结合域定义。被分为6个亚家族，Sox5和Sox6属于D亚家族，其特征是N-末端结构域保守，包括一个亮氨酸拉链。一个盘绕线圈域和一个Q盒。D组Sox基因以长短转录本的形式表达，表现出不同的表达模式。在老鼠身上，指的是Sox5的长型。L-Sox5与Sox6共表达，并与Sox6相互作用，这两种蛋白共同在软骨形成和肌肉形成中发挥关键作用。然而，在人类身上。此前只确定了Sox5的缩写形式。为了深入了解Sox5的功能，我们鉴定并鉴定了人的L-Sox5。人L SOX5cDNA编码一个763个氨基酸的蛋白，比短形式长416个氨基酸，包含D组Sox蛋白的所有特征基序。预测的L SOX5蛋白与小鼠的氨基酸同源性为979(氨基酸同源性)，与人SOX6的同源性为5917(氨基酸同源性)。L SOX5基因包含18个外显子，具有与SOX6相似的基因组结构。我们已经在L-SOX5中发现了两个转录起始点和多个不同于短形式的选择性剪接变异体。与显示睾丸特异性表达的短型不同，L-SOX5在多种组织中表达。比如SOX6。L-SOX5在软骨细胞和横纹肌中有较强的表达，提示其在人软骨和肌肉发育中可能起重要作用。(C)2002 Elsevier Science B.V.保留所有权利。
The Sox (Sry-type HMG box) group of transcription factors. which is defined by a high-mobility, group (HMG) DNA-binding domain. is categorized into six subfamilies, Sox5 and Sox6 belong to the group D subfamily, which is characterized by conserved N-terminal domains including a leucine-zipper. a coiled-coil domain and a Q-box. Group D Sox genes are expressed as long and short transcripts that exhibit differential expression patterns. In mouse, the long form of Sox5. L-Sox5, is co-expressed and interacts with Sox6; together, these two proteins appear to play a key role in chondrogenesis and myogenesis. In humans, however. only the short form of Sox5 has previously been identified. To gain insight into Sox5 function, we have identified and characterized human L-SOX5. The human L-SOX5 cDNA encodes a 763-amino-acid protein that is 416 residues longer than the short form and contains all of the characteristic motifs of group D Sox proteins. The predicted L-SOX5 protein shares 979( amino acid identity with its mouse counterpart and 5917( identity with human SOX6. The L-SOX5 gene contains 18 exons and shows similar genomic structure to SOX6. We have identified two transcription start sites in L-SOX5 and multiple alternatively spliced mRNA variants that are distinct from the short form. Unlike the short form, which shows testis-specific expression, L-SOX5 is expressed in multiple tissues. Like SOX6. L-SOX5 shows strong expression in chondrocytes and striated muscles, indicating a likely role in human cartilage and muscle development. (C) 2002 Elsevier Science B.V. All rights reserved.