MOLECULAR CHARACTERIZATION OF THE HUMAN GENE ENCODING AN ABUNDANT 61-KDA PROTEIN-SPECIFIC TO THE RETINAL-PIGMENT EPITHELIUM
MOLECULAR CHARACTERIZATION OF THE HUMAN GENE ENCODING AN ABUNDANT 61-KDA PROTEIN-SPECIFIC TO THE RETINAL-PIGMENT EPITHELIUM
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DOI：
10.1093/hmg/4.4.641
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发表时间：
1995-04-01
影响因子：
3.5
通讯作者：
THOMPSON, DA
中科院分区：
文献类型：
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作者：
NICOLETTI, A;WONG, DJ;THOMPSON, DA
眼的视网膜色素上皮（RPE）表达丰富的61 kDa蛋白（RPE 65），其是发育调节的和组织特异性的。在我们努力了解RPE的专门功能和发育以及遗传性视网膜变性的起源时，我们已经表征了编码61 kDa蛋白的人类基因。这是第一个在RPE中特异性转录的基因的结构表征，该基因定位于人类染色体1 p31。编码转录本的序列跨越20 kb，并被13个内含子中断。一个假定的转录起始位点位于起始密码子上游54 bp处。约2.9 kb的单个转录物存在于人RPE中，并且在其他组织中未检测到。推导出的533个氨基酸的人蛋白质序列与牛蛋白质序列的同源性为98.7%，但与数据库中的任何其他条目没有显示出显著的相似性。61 kDa蛋白的表达似乎取决于环境因素的存在，因为相应的转录物是快速最后从培养中建立的RPE细胞。下调可能发生在转录后，因为提出靶向RNA进行快速降解的富含AU的元件存在于整个3 '非翻译区。组织特异性表达、高丰度、进化保守性、发育调控和3 '-非翻译区序列表明，61 kDa蛋白是一个功能重要的基因的产物，该基因的表达受到严格调控。
The retinal pigment epithelium (RPE) of the eye expresses an abundant 61 kDa protein (RPE65), that is developmentally regulated and tissue-specific. In our efforts toward understanding the specialized functions and development of the RPE, and the origins of inherited retinal degenerations, we have characterized the human gene encoding the 61 kDa protein. This is the first structural characterization of a gene transcribed specifically in the RPE, The gene maps to human chromosome 1p31. The sequence encoding the transcript spans over 20 kb, and is interrupted by 13 introns. A putative transcription start site lies 54 bp upstream of the initiation codon. A single transcript of approximately 2.9 kb is present in human RPE, and is not detected in other tissues. The deduced 533 amino acid sequence of the human protein is 98.7% identical to the bovine, but shows no significant similarity to any other entry in the databases. Expression of the 61 kDa protein appears to depend on the presence of environmental cues, since the corresponding transcripts are rapidly last from RPE cells established in culture. Down regulation may occur post-transcriptionally, since AU-rich elements proposed to target RNA for rapid degradation are present throughout the 3'-untranslated region. The tissue-specific expression, high abundance, evolutionary conservation, developmental regulation, and sequence of the 3'-untranslated region suggest that the 61 kDa protein is the product of a functionally important gene whose expression is tightly regulated.