Identification and characterization of novel alternative splice variants of human SAMD11
Identification and characterization of novel alternative splice variants of human SAMD11
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人类 SAMD11 新型选择性剪接变体的鉴定和表征
DOI：
10.1016/j.gene.2013.08.033
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发表时间：
2013-11-10
期刊：
影响因子：
3.5
通讯作者：
Shen, Huangxuan
中科院分区：
文献类型：
--
作者：
Jin, Guorong;Long, Chongde;Shen, Huangxuan
无菌α基序结构域11 （SAMD11）在斑马鱼到人类的进化上是保守的。小鼠Samd11主要在发育中的视网膜光感受器和成年松果体中表达，其转录受锥杆同源结构域蛋白Crx的直接调控。然而，关于人类SAMD11的研究很少。为了研究人类SAMD11的功能，我们首先克隆了它的编码序列（CDS），并鉴定了多达45个新的选择性剪接变体（asv）。小鼠Samd11 asv也通过将小鼠Samd11表达序列标记（ESTs）与注释序列比对来鉴定。然而，SAMD11的表达范围和转录调控在人和小鼠之间是不同的。人类SAMD11在许多细胞系和眼组织中广泛表达，其转录不受CRX、OTX2或NR2E3蛋白的调控。此外，功能分析表明，人SAMD11能轻微促进细胞增殖。综上所述，本研究阐明了人类SAMD11的基本特征，揭示了SAMD11选择性剪接的发生是保守的，但SAMD11的功能在不同物种中可能存在差异。(c) 2013 Elsevier B.V.版权所有
Sterile alpha motif domain-containing 11 (SAMD11) is evolutionarily conserved from zebrafish to human. Mouse Samd11 is predominantly expressed in developing retinal photoreceptors and the adult pineal gland, and its transcription is directly regulated by the cone-rod homeodomain protein Crx. However, there has been little research on human SAMD11. To investigate the function of human SAMD11, we first cloned its coding sequence (CDS) and identified up to 45 novel alternative splice variants (ASVs). Mouse Samd11 ASVs were also identified by aligning the mouse Samd11 expressed sequence tags (ESTs) with the annotated sequence. However, the range of expression and transcriptional regulation of SAMD11 differs between human and mouse. Human SAMD11 was found to be widely expressed in many cell lines and ocular tissues and its transcription was not regulated by CRX, OTX2 or NR2E3 proteins. Furthermore, functional analysis indicated that human SAMD11 could promote cell proliferation slightly. In conclusion, this study elucidated the basic characteristics of human SAMD11 and revealed that, although the occurrence of alternative splicing of SAMD11 was conserved, the function of SAMD11 may vary in different species. (c) 2013 Elsevier B.V. All rights reserved.