Round Table: Protein Dosage Rebalancing: From Gene Expression to Autism
Dr. Igor B. Rogozin
Staff Scientist at the National Center for Biotechnology Information
National Institutes of Health
Lunch will be provided at 11:30 a.m.
The concept of genetic balance traces back to the early days of genetics. With the increasing availability of genomic data, it became clear that numerous gene families have diverged in function through series of duplications, including many lineage-specific expansions [or gene copy-number variations (CNVs) at the population level]. This is not surprising taking into account that gene duplications are traditionally considered to be a major evolutionary source of new protein functions. Results of large-scale analyses of gene duplications suggested that many recent gene duplications have a positive effect in some tissues and/or environmental conditions, whereas they also have a negative effect in some other tissues and/or environmental conditions. CNVs were implicated in many human genetic diseases, for example, it was suggested that rare CNVs is an important source of risk for autism spectrum disorders (ASDs). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at over 30 gene loci, implicating several ASD-associated genes previously linked to other neuro-developmental disorders. It seems likely that the synergistic action of environmental hazards with genetic variations that, in themselves, have limited or no deleterious effects but are potentiated by the environmental factors and result in dosage imbalance of neuron-specific proteins is a general principle that underlies the alarming increase in the ASD prevalence.
Dr. Rogozin received his PhD in computational biology from the Novosibirsk State University in 1992. After that he was serving as a visiting scientist at the Institute of Advanced Technologies in Milan and completed his postdoctoral training at Penn State University (USA). For the last 10 years, Dr. Rogozin has been working on various aspects of molecular evolution and comparative genomics as a Staff Scientist at the National Center for Biotechnology Information (NIH). He is also an Adjunct Lecturer in the Foundation for Advanced Education in the Science (NIH) and Johns Hopkins University. Dr. Rogozin is editorial board member of several peer-reviewed journals including BMC Genomics, PLoS ONE, Gene, Scientific Reports, and Briefings in Bioinformatics. He authored over 150 papers published in internationally peer-reviewed journals, ranging from Science, Nature, and Current Biology to more specialized journals such as Nucleic Acids Research, BMC Genomics and Bioinformatics.