Roberts R G, Bentley D R, Bobrow M
Paediatric Research Unit, Guy's Hospital, London, England.
Hum Mutat. 1993;2(4):293-9. doi: 10.1002/humu.1380020409.
Ectopic (or "illegitimate") transcripts have recently become popular as a means of facilitating the study of transcripts normally considered to have a pattern of expression restricted to one or a few tissues. It has been generally assumed that the structure of an ectopic transcript faithfully represents that of its tissue-specific counterpart. We describe here the inclusion of a novel exon in 50% of ectopic dystrophin transcripts from human peripheral blood lymphocytes. The novel sequence resembles a conserved region in the 3' untranslated region of members of the carcinoembryonic antigen gene family and lies within the first intron of the human dystrophin gene. This constitutes a significant departure from the expected in vivo splicing behaviour in an ectopic transcript and suggests that there may be exceptions to the assumption that ectopic transcripts are processed in a similar way to their tissue-specific counterparts.
异位（或“非法”）转录本最近作为一种促进对通常被认为表达模式局限于一个或几个组织的转录本进行研究的手段而受到欢迎。人们普遍认为，异位转录本的结构忠实地代表了其组织特异性对应物的结构。我们在此描述了在来自人外周血淋巴细胞的50%的异位肌营养不良蛋白转录本中包含一个新的外显子。该新序列类似于癌胚抗原基因家族成员3'非翻译区的一个保守区域，且位于人肌营养不良蛋白基因的第一个内含子内。这与异位转录本预期的体内剪接行为有显著差异，并表明异位转录本以与其组织特异性对应物类似的方式进行加工这一假设可能存在例外情况。
