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Genes 2014, 5(1), 235-253; doi:10.3390/genes5010235
Review

Illuminating the Transcriptome through the Genome

Institute of Genetic Medicine, Newcastle University, Newcastle, NE1 3BZ, UK
Received: 17 January 2014 / Revised: 3 March 2014 / Accepted: 5 March 2014 / Published: 14 March 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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Abstract

Sequencing the human genome was a huge milestone in genetic research that revealed almost the total DNA sequence required to create a human being. However, in order to function, the DNA genome needs to be expressed as an RNA transcriptome. This article reviews how knowledge of genome sequence information has led to fundamental discoveries in how the transcriptome is processed, with a focus on new system-wide insights into how pre-mRNAs that are encoded by split genes in the genome are rearranged by splicing into functional mRNAs. These advances have been made possible by the development of new post-genome technologies to probe splicing patterns. Transcriptome-wide approaches have characterised a “splicing code” that is embedded within and has a significant role in deciphering the genome, and is deciphered by RNA binding proteins. These analyses have also found that most human genes encode multiple mRNA isoforms, and in some cases proteins, leading in turn to a re-assessment of what exactly a gene is. Analysis of the transcriptome has given insights into how the genome is packaged and transcribed, and is helping to explain important aspects of genome evolution.
Keywords: transcriptome; RNA splicing; post-genome transcriptome; RNA splicing; post-genome
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Elliott, D.J. Illuminating the Transcriptome through the Genome. Genes 2014, 5, 235-253.

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