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Illuminating the Transcriptome through the Genome

Lookup NU author(s): Professor David Elliott



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


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.

Publication metadata

Author(s): Elliott DJ

Publication type: Review

Publication status: Published

Journal: Genes

Year: 2014

Volume: 5

Issue: 1

Pages: 235-253

Print publication date: 14/03/2014

Online publication date: 14/03/2014

Acceptance date: 05/03/2014

ISSN (print): 0378-1119

ISSN (electronic): 2073-4425

Publisher: MDPI AG


DOI: 10.3390/genes5010235