HGM 2011 - Dubai, UAE
JOHN S MATTICK - Abstract
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John S. Mattick
Title: RNA regulation of human development, cognition and disease
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It appears that the genetic basis of the programming of human development and cognitive capacity has been misunderstood for the past 50 years, because of the assumption that most genetic information is transacted by proteins. Contrary to the derived assumption that most of the human genome is comprised of evolutionary debris (introns, integenic 'deserts', retrotransposon-derived sequences), it is now evident that essentially the entire genome is dynamically transcribed to produce enormous numbers of regulatory RNAs that control gene expression at various levels, including the site-specificity of the chromatin-modifying complexes that underpin developmental trajectories and cognitive function. Increasing numbers of these regulatory RNAs are being shown to be dysregulated in cancer and other complex diseases. It is also becoming evident that the system has evolved extraordinary plasticity via RNA editing, and that this is the molecular basis of environment-epigenome interactions underpinning brain function and influencing the progression of diseases such as type 2 diabetes. Retrotransposons also appear to contribute to genomic, epigenomic and transcriptomic plasticity, and somatic mosaicism, especially in the brain. Thus, apart from the fact that some genes encode proteins, it appears most orthodox assumptions about human genetic information have been incorrect, and that what was dismissed as 'junk' because it was not understood will hold the key to understanding human evolution, development, variation, cognition and disease. |
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Sheikh Hamdan Bin Rashid Al Maktoum |
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Human Genome Organisation |
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Centre for Arab Genomic Studies |
