Top Research Papers on Genetics

It is demonstrated that no simple general relationship exists between neutral genetic diversity and the risk of species extinction, and a better understanding of the properties of functional genetic diversity, demographic history, and ecological relationships is necessary for developing and implementing effective conservation genetic strategies.

The role of functional (impacting tumour phenotype) and non-functional intra-tumour heterogeneity (ITH) in cancer evolution is discussed, highlighting the importance of considering genetic andnon-genetic factors and their impact on patient outcomes.

1. Genetics and Ecotoxicology - Insights from the Interface Valery Forbes 2. The Evolution of Heavy Metal Tolerance in Plants: Adpatations, Limits, and Costs A. Johnathan Forbes 3. Mercury Tolerance, Population Effects, and Population Genetics in the Mummichog, Fundulus heteroclitus Judith Weis, Nicolay Mugue, Peddrick Weis 4. Chemical-Induced Changes in the Genetic Structure of Populations - Effects on Allozymes Robert Gillespie and Sheldon Guttman 5. Adaptation to Metals in the Midge, Chironomus riparius - a Case Study in the River Dommel Jaap Postma and Dick Groenendijk 6. The Influence of ...

This review summarises recent progress in elucidating the genetic basis of psoriasis, particularly through large genome-wide association studies, and illustrates the power of genetic analyses for disease stratification.

Here, it is synthesized how considering the effects of these adaptive loci in the context of cellular environments, genomes, organisms, and populations has provided new insights to the genetic architecture of adaptation.

Interestingly, approximately 37% of candidate genes are shared in human male and female gonadal failure, implying that genetic counselling should be extended also to female family members of NOA patients, and of potential clinical relevance for future gene panel-based screening.

The progress in the field of epilepsy genetics is reviewed and molecular discoveries in the most important epilepsy groups are highlighted, including those that have been long considered to have a nongenetic cause.

Evaluation of whether the specific type of genetic predisposition to hypertriglyceridemia affects medical decisions or long-term outcomes and searching for other genetic contributors, including the role of genome-wide polygenic scores, novel genes, non-linear gene-gene or gene-environment interactions, and non-genomic mechanisms including epigenetics and mitochondrial DNA are considered.

Osteoarthritis genetics has been transformed in the past decade through the application of large-scale genome-wide association scans, revealing fascinating fundamental insights into osteoarth arthritis and can expose options for translational intervention.

There is still a gap between genetics services needed and workforce capacity and a concerted effort is required to increase the number of clinical geneticists and enhance interdisciplinary teamwork to meet increasing patient needs.

It is argued that understanding mechanisms leading to species decline and community impact is a key to successful implementation of these strategies and advocated an approach where short‐ and long‐term strategies are integrated into a decision framework that also considers nongenetic aspects of management.

The conclusion is that there are many advantages to using these techniques and lots of potential interactions to other evolutionary algorithms; as well, the reader can find this article useful for practical research, graduate teaching, and as a pedagogical guide to this exciting domain.

The latest efforts and advances in identifying and decoding asthma susceptibility are focused on epigenetics, heritable characteristics that affect gene expression without altering DNA sequence, with DNA methylation being the most described mechanism.

When histone proteins in nucleosomes are modified, the cell’s DNA replication and transcription machinery can either more easily or less easily access the DNA, thus changing gene expression patterns.

This review identifies the most significant genetic variants associated with RA susceptibility to date, with particular focus on the contribution of the HLA class II genes across different ethnic groups.

As the understanding of the genetics of BD improves, there is growing optimism that some clear biological pathways will emerge, providing a basis for future studies aimed at molecular diagnosis and novel therapeutics.

There is a strong protective effect for the risk of autoantibody-positive RA associated with HLA-DRB1*13 alleles, and understanding of the specific mechanisms in the development of increased risk of RA for these variations is work in progress.

The ability to reprogramme cellular translation and genomes to produce non-canonical biopolymers has wide-ranging applications, including in therapeutics, but has yet to be fully realized.

Some of the key findings that are shaping current understanding of autism and what these discoveries mean for clinicians are considered.

Progress to date including dissection of heritability, discovery of vitiligo susceptibility loci through candidate gene, genomewide linkage, andgenomewide association studies, relationships to other autoimmune diseases, polygenic architecture of vitILigo risk, vitiliga triggering, and disease onset are summarized and suggestions for future directions are provided.

More recent discoveries in genetic and epigenetic studies of inflammatory bowel diseases may potentially be of relevance in daily clinical practice.

The claim that the history of Isle Royale wolves represents likely outcomes of genetic rescues using immigrants from larger source populations is invalid, and the simulations' conclusions conflict profoundly with those of >120 meta-analysed real datasets, and do not overturn current empirically validated recommendations to maximize genetic diversity in the target population.

The results highlight nicotine dependence-specific loci, emphasizing the FTND as a composite phenotype that expands genetic knowledge of smoking, and highlight five genome-wide significant loci.

It is reported that CC strains vary dramatically in their susceptibility to infection and produce qualitatively distinct immune states, and the large fraction of the pathogen’s genome that has been maintained to ensure fitness in a diverse population is identified.

This Review discusses the application of single-cell multi-omics technologies to the study of cancer evolution, which capture and integrate the different layers of heritable information and reveal their complex interplay.

Abstract Background Obsessive-compulsive disorder (OCD) is a psychiatric disorder with multiple symptom dimensions (e.g. contamination, symmetry). OCD clusters in families and decades of twin studies clearly demonstrate an important role for genetics in the etiology of the disorder. Methods In this review, we summarize the genetic epidemiology and molecular genetic studies of OCD and obsessive-compulsive symptoms. Results OCD is a heritable, polygenic disorder with contributions from both common and rare variants, including de novo deleterious variations. Multiple studies have provided reliabl...

Various aspects of human infertility are reviewed, including etiology, mechanisms, and treatments, with a particular emphasis on genetics, including gamete production and gamete quality, which is the core of successful reproduction.

The challenges in determining redundancy empirically are discussed, the use of the C-score metric is demonstrated, and the implicit assumptions of redundancy in quantitative versus population genetic models are contrasted.

To celebrate the first 20 years of Nature Reviews Genetics, 12 leading scientists take stock of the current state of play and emphasize the work that remains to be done over the next few years so that, ultimately, the benefits of genetic and genomic research can be felt by everyone.

Only a small proportion of the heritable component of malaria resistance can be explained by the variants described so far, underscoring its complex genetic architecture and the need for continued research.

Advances in genetics and genomics are contributing to a deeper understanding of childhood obesity, allowing for development of clinical tools and therapeutic agents.

General approaches for stone prevention, current understanding of the genetic influences underlying kidney stone formation are described, and the implications of a correct diagnosis for the clinical management of recurrent stone formers are discussed.

Tobacco plants are engineered with a fungal bioluminescence system that converts caffeic acid into luciferin and report self-sustained luminescence that is visible to the naked eye, which could underpin development of a suite of imaging tools for plants.

5G breeding approach brings precision and enhances efficiency in breeding programs and multi-disciplinary team of scientists need to be trained to deploy 5G breeding in developing countries.

Despite its complex architecture, insights from experimental genetic dissection coalesce to reveal unifying biological themes, including synaptic, lysosomal, mitochondrial, and immune-mediated mechanisms of pathogenesis.

By bridging theories of biodiversity and population genetics, a mathematical framework is introduced to understand the loss of naturally occurring DNA mutations within decreasing habitat within a species, showing that genome-wide diversity follows a power law with geographic area (the mutations-area relationship), which can predict genetic diversity loss in spatial computer simulations of local population extinctions.

This work highlights ongoing and future work designed to identify implicated biological pathways that will inform staging models based on biology as well as targeted prevention and tailored intervention, and will galvanize interest in the development of pharmacologic agents that target the core biology of the illnesses.

Current knowledge of complex genetic regulation of each key step of human brain development through the lens of evolutionary specialization and neurodevelopmental disorders is reviewed and the use of human stem cell-derived 2D cultures and 3D brain organoids to investigate human-enriched features and disease mechanisms is highlighted.

This study shows that large genotype databases enable accurate phenotype prediction, allowing appropriate targeting of therapies to optimize clinical outcome, and suggests a gradient in genotype and phenotype distribution exists across Europe, from classic PKU in the east to mild PK U in the southwest and mild hyperphenylalaninemia in the south.

The RNF213 gene, encoding for a ubiquitously expressed 591 kDa cytosolic protein, has been confirmed as a susceptibility gene in several studies with a gene dosage-dependent clinical phenotype, allowing preventive screening and the development of new therapeutic approaches.