DNA Variations in Evolution and Human Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (28 February 2018) | Viewed by 65474

Special Issue Editors

Department of Diagnostic & Biomedical Sciences, School of Dentistry,1941 East Road, Houston, TX 77054, USA
Interests: craniofacial tissue development; genetics of craniofacial birth defects; salivary gland development and disorders; computational biology of gene regulation
Special Issues, Collections and Topics in MDPI journals
Dr. Ariadne Letra
E-Mail Website
Guest Editor
University of Texas Health Science Center at Houston, Departments of Diagnostic and Biomedical Sciences, Endodontics, and Craniofacial Research Center, 7500 Cambridge Street, Room 5359, Houston, TX 77054, USA

Special Issue Information

Dear Colleagues,

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
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • Genomic evolution

  • Coding DNA variations

  • Non-coding DNA variations

  • Alternative transcriptional start site

  • Alternative splicing and mRNA stability

  • Post-transcriptional and -translational regulation

Published Papers (13 papers)

Order results
Result details
Select all
Export citation of selected articles as:
22 pages, 2083 KiB  
Transcriptional Regulation of INSR, the Insulin Receptor Gene
Genes 2019, 10(12), 984; https://doi.org/10.3390/genes10120984 - 29 Nov 2019
3 pages, 161 KiB  
Identification of Disease Risk DNA Variations is Shaping the Future of Precision Health
Genes 2019, 10(6), 450; https://doi.org/10.3390/genes10060450 - 13 Jun 2019
14 pages, 1244 KiB  
Modular Proteoglycan Perlecan/HSPG2: Mutations, Phenotypes, and Functions
Genes 2018, 9(11), 556; https://doi.org/10.3390/genes9110556 - 16 Nov 2018
15 pages, 1882 KiB  
Can Genetic Factors Compromise the Success of Dental Implants? A Systematic Review and Meta-Analysis
Genes 2018, 9(9), 444; https://doi.org/10.3390/genes9090444 - 06 Sep 2018
10 pages, 886 KiB  
Brief Report
APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation
Genes 2018, 9(7), 322; https://doi.org/10.3390/genes9070322 - 27 Jun 2018
18 pages, 2186 KiB  
Genetic Association with Subgingival Bacterial Colonization in Chronic Periodontitis
Genes 2018, 9(6), 271; https://doi.org/10.3390/genes9060271 - 23 May 2018
24 pages, 7477 KiB  
The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis
Genes 2018, 9(5), 255; https://doi.org/10.3390/genes9050255 - 16 May 2018
21 pages, 360 KiB  
Genetic Mechanisms of Asthma and the Implications for Drug Repositioning
Genes 2018, 9(5), 237; https://doi.org/10.3390/genes9050237 - 03 May 2018
9 pages, 1224 KiB  
BSG and MCT1 Genetic Variants Influence Survival in Multiple Myeloma Patients
Genes 2018, 9(5), 226; https://doi.org/10.3390/genes9050226 - 24 Apr 2018
14 pages, 27552 KiB  
Transgenic Xenopus laevis Line for In Vivo Labeling of Nephrons within the Kidney
Genes 2018, 9(4), 197; https://doi.org/10.3390/genes9040197 - 06 Apr 2018
1 pages, 124 KiB  
Addendum: Iwaszko et al., Influence of NKG2D Genetic Variants on Response to Anti-TNF Agents in Patients with Rheumatoid Arthritis. Genes 2018, 9, 64
Genes 2018, 9(2), 94; https://doi.org/10.3390/genes9020094 - 14 Feb 2018
15 pages, 262 KiB  
Influence of NKG2D Genetic Variants on Response to Anti-TNF Agents in Patients with Rheumatoid Arthritis
Genes 2018, 9(2), 64; https://doi.org/10.3390/genes9020064 - 25 Jan 2018
12 pages, 476 KiB  
The IFNG rs1861494 Single Nucleotide Polymorphism Is Associated with Protection against Tuberculosis Disease in Argentina
Genes 2018, 9(1), 46; https://doi.org/10.3390/genes9010046 - 22 Jan 2018
Back to TopTop