Bruzzone Maria Jessica, Gavazzo Paola, Massone Sara, Balbi Carolina, Villa Federico, Conti Anastasia, Dieci Giorgio, Cancedda Ranieri, Pagano Aldo
Department of Experimental Medicine (DIMES), University of Genoa, 16132 Genoa, Italy.
Int J Mol Sci. 2012 Nov 13;13(11):14813-27. doi: 10.3390/ijms131114813.
A series of recent studies demonstrated an unexpectedly high frequency of intronic RNA polymerase (pol) III transcription units spread throughout the human genome. The investigation of a subset of these transcripts revealed their tissue/cell-specific transcription together with the involvement in relevant physiopathological pathways. Despite this evidence, these transcripts did not seem to have murine orthologs, based on their nucleotide sequence, resulting in a limitation of the experimental approaches aimed to study their function. In this work, we have extended our investigation to the murine genome identifying 121 pairs of mouse/human transcripts displaying syntenic subchromosomal localization. The analysis in silico of this set of putative noncoding (nc)RNAs suggest their association with alternative splicing as suggested by recent experimental evidence. The investigation of one of these pairs taken as experimental model in mouse hippocampal neurons provided evidence of a human/mouse functional homology that does not depend on underlying sequence conservation. In this light, the collection of transcriptional units here reported can be considered as a novel source for the identification and the study of novel regulatory elements involved in relevant biological processes.
最近一系列研究表明，内含子RNA聚合酶（pol）III转录单元在人类基因组中广泛分布，其频率出人意料地高。对这些转录本的一个子集进行研究发现，它们具有组织/细胞特异性转录，并且参与相关的生理病理途径。尽管有这些证据，但根据其核苷酸序列，这些转录本似乎没有小鼠直系同源物，这限制了旨在研究其功能的实验方法。在这项工作中，我们将研究扩展到小鼠基因组，鉴定出121对显示同线亚染色体定位的小鼠/人类转录本。对这组假定的非编码（nc）RNA进行的计算机分析表明，正如最近的实验证据所表明的那样，它们与可变剪接有关。在小鼠海马神经元中作为实验模型对其中一对转录本进行的研究提供了人类/小鼠功能同源性的证据，这种同源性不依赖于潜在的序列保守性。有鉴于此，这里报道的转录单元集合可被视为鉴定和研究参与相关生物学过程的新型调控元件的新来源。
