Special Issue "DNA Variations in Evolution and Human Diseases"
Deadline for manuscript submissions: closed (28 February 2018).
Interests: craniofacial development and birth defects; neural crest cells; gene regulation; salivary gland; computational biology and modeling
In 1973, the biologist Theodosius Dobzhansky wrote "nothing in biology makes sense except in the light of evolution". Advances in sequencing technologies have provided the scientific community with essential information to determine which part of the mammalian genome has been going through rapid turnover. Based on DNA conservation and alignment, evolutionary studies have shown that DNA changes are taking place at higher rates in non-coding regulatory regions than in coding sequences that encode for functional protein. Further, molecular and genetic studies in animal models have shown that some DNA variations were maintained through evolution due to the positive effect in increasing the fitness to environmental condition; in contrast, certain DNA variations increase risk for simple and complex diseases.
In humans, genome-wide association studies have demonstrated that ~10% of the disease-related single nucleotide polymorphisms (SNPs) are located in amino acid-coding sequences, whereas 90% of the disease-associated SNPs are outside the protein-coding regions in common complex diseases. Although prediction of functional SNPs in coding regions can be easily accomplished using bioinformatic approaches, prediction of pathological non-coding DNA variations and their effect on target gene expression remains challenging. Identification of pathogenic DNA variants is critical for improving prognosis of genetic diseases in high-risk individuals and for targeted therapies in patients with genetic disorders.
The aim of this Special Issue is to provide an updated view of the current research to understanding the underlying mechanisms by which coding and non-coding DNA variations alter gene function and expression, gene transcriptional start site and post-transcriptional and post-translational regulations.
Dr. Walid Fakhouri
Dr. Ariadne Letra
Manuscript Submission Information
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Coding DNA variations
Non-coding DNA variations
Alternative transcriptional start site
Alternative splicing and mRNA stability
Post-transcriptional and -translational regulation