the human transcriptome an unfinished story人类转录组一个未完成的故事.pdfVIP

Genes 2012, 3, 344-360; doi:10.3390/genes3030344 OPEN ACCESS genes ISSN 2073-4425 /journal/genes Review The Human Transcriptome: An Unfinished Story Mihaela Pertea McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; E-Mail: mpertea@; Tel.: +1-443-287-0972 Received: 15 May 2012 ; in revised form: 14 June 2012 / Accepted: 25 June 2012 / Published: 29 June 2012 Abstract: Despite recent technological advances, the study of the human transcriptome is still in its early stages. Here we provide an overview of the complex human transcriptomic landscape, present the bioinformatics challenges posed by the vast quantities of transcriptomic data, and discuss some of the studies that have tried to determine how much of the human genome is transcribed. Recent evidence has suggested that more than 90% of the human genome is transcribed into RNA. However, this view has been strongly contested by groups of scientists who argued that many of the observed transcripts are simply the result of transcriptional noise. In this review, we conclude that the full extent of transcription remains an open question that will not be fully addressed until we decipher the complete range and biological diversity of the transcribed genomic sequences. Keywords: transcriptome; pervasive transcription; RNA-seq; mRNA; ncRNA 1. Background and Introduction The transcriptome of a cell is the collection of all the RNA mol