Department of Life Science, National Taiwan Normal University, Taipei, Taiwan ; Department of Neurology, Chang Gung Memorial Hospital, Chang-Gung University College of Medicine, Taipei, Taiwan.
PLoS One. 2013 Sep 11;8(9):e73885. doi: 10.1371/journal.pone.0073885. eCollection 2013.
Spinocerebellar ataxia type 8 (SCA8) involves the expansion of CTG/CAG repeats from the overlapping ataxin 8 opposite strand (ATXN8OS) and ataxin 8 (ATXN8) genes located on chromosome 13q21. Although being transcribed, spliced and polyadenylated in the CTG orientation, ATXN8OS does not itself appear to be protein coding, as only small open reading frames (ORFs) were noted. In the present study we investigated the translation of a novel 102 amino acids containing-ORF in the ATXN8OS RNA. Expression of chimeric construct with an in-frame ORF-EGFP gene demonstrated that ATXN8OS RNA is translatable. Using antiserum raised against ORF, ATXN8OS ORF expression was detected in various human cells including lymphoblastoid, embryonic kidney 293, neuroblastoma IMR-32, SK-N-SH, SH-SY5Y cells and human muscle tissue. The biological role of the ATXN8OS ORF and its connection to SCA8 remains to be determined.
脊髓小脑性共济失调 8 型（SCA8）涉及 CTG/CAG 重复序列的扩展，该重复序列来自重叠的抗肌萎缩蛋白 8 反义链（ATXN8OS）和位于 13q21 染色体上的抗肌萎缩蛋白 8（ATXN8）基因。尽管在 CTG 方向上进行转录、剪接和多聚腺苷酸化，但 ATXN8OS 本身似乎不是蛋白质编码，因为只注意到了小开放阅读框（ORF）。在本研究中，我们研究了 ATXN8OS RNA 中一个含有 102 个氨基酸的新型 ORF 的翻译。带有框内 ORF-EGFP 基因的嵌合构建体的表达表明 ATXN8OS RNA 可翻译。使用针对 ORF 制备的抗血清，在包括淋巴母细胞、胚胎肾 293、神经母细胞瘤 IMR-32、SK-N-SH、SH-SY5Y 细胞和人肌肉组织在内的各种人细胞中检测到 ATXN8OS ORF 的表达。ATXN8OS ORF 的生物学作用及其与 SCA8 的关系仍有待确定。
