Importance Of Genetic Research Research Articles

Why we thrive beneath a northern sky – genomic signals of selection in apple for adaptation to northern Sweden

Good understanding of the genomic regions underlying adaptation of apple to boreal climates is needed to facilitate efficient breeding of locally adapted apple cultivars. Proper infrastructure for phenotyping and evaluation is essential for identification of traits responsible for adaptation, and dissection of their genetic composition. However, such infrastructure is costly and currently not available for the boreal zone of northern Sweden. Therefore, we used historical pomological data on climate adaptation of 59 apple cultivars and whole genome sequencing to identify genomic regions that have undergone historical selection among apple cultivars recommended for cultivation in northern Sweden. We found the apple collection to be composed of two ancestral groups that are largely concordant with the grouping into ‘hardy’ and ‘not hardy’ cultivars based on the pomological literature. Using a number of genome-wide scans for signals of selection, we obtained strong evidence of positive selection at a genomic region around 29 MbHFTH1 of chromosome 1 among apple cultivars in the ‘hardy’ group. Using phased genotypic data from the 20 K apple Infinium® SNP array, we identified haplotypes associated with the two cultivar groups and traced transmission of these haplotypes through the pedigrees of some apple cultivars. This demonstrates that historical data from pomological literature can be analyzed by population genomic approaches as a step towards revealing the genomic control of a key property for a horticultural niche market. Such knowledge is needed to facilitate efficient breeding strategies for development of locally adapted apple cultivars in the future. The current study illustrates the response to a very strong selective pressure imposed on tree crops by climatic factors, and the importance of genetic research on this topic and feasibility of breeding efforts in the light of the ongoing climate change.

Legal Protection of Genetic Research

The article discusses the patentability of the results of genetic research, in particular the sequence of genes in the molecular structure of deoxyribonucleic acid. The main approaches established in the American, European and national legal system regarding the protection of genetic inventions are presented. The main points in a decision of the Court of Justice of the EU are analysed. Both the criteria for patentability of an element of the human body and the hypotheses referring to the exceptions to patentability corresponding to the provisions of Directive 98/44/EC on the legal protection of biotechnological inventions, the Convention on Human Rights and Biomedicine of Oviedo, the European Patent Convention and the TRIPS Agreement. The connection between the importance of genetic research and the development of the innovative economy based on the patents for these inventions is substantiated.

The importance of genetic research on the dominant species of human intestinal indigenous microbiota.

Comparisons of the changes in the gut microbiota and transcriptomes as a result of changes in diet have demonstrated that the regulation of the gene functions of intestinal bacteria is fundamental for the regulation of the intestinal environment. However, the functions of only about half of the genes can be predicted using nucleotide sequences obtained from the metagenomic data of the human gut microbiota. Therefore, the regulation of gut bacterial gene functions is hindered. To resolve this issue, the functions of the genes of intestinal bacteria must be identified. In our previous study, a high-throughput cultivation system was established for the dominant species of indigenous human intestinal microbiota. Using this system, we analyzed the synthesis and transport of polyamines by intestinal bacteria. Comparison of the results with those obtained by in silico analysis indicated the existence of novel polyamine synthetic enzymes and transport proteins. Next, strains with gene deletions and complementation for the polyamine synthetic system of the genus Bacteroides were analyzed. Furthermore, we co-cultured genetically engineered Escherichia coli and Enterococcus faecalis strains to demonstrate the presence of a polyamine synthetic pathway spanning multiple bacterial species. Here, we outline the trends of research using genetically engineered intestinal bacteria and the ripple effects of studies in which intestinal bacteria have been analyzed genetically. Moreover, because studies on intestinal bacteria at the gene level are indispensable for improving our understanding of their regulation, the importance of this research will continue to increase in the future.

Harnessing Qatar Biobank to understand type 2 diabetes and obesity in adult Qataris from the First Qatar Biobank Project

BackgroundHuman tissues are invaluable resources for researchers worldwide. Biobanks are repositories of such human tissues and can have a strategic importance for genetic research, clinical care, and future discoveries and treatments. One of the aims of Qatar Biobank is to improve the understanding and treatment of common diseases afflicting Qatari population such as obesity and diabetes.MethodsIn this study we apply a panorama of state-of-the-art statistical methods and machine learning algorithms to investigate associations and risk factors for diabetes and obesity on a sample of 1000 Qatari population.ResultsRegarding diabetes, we identified pronounced associations and risk factors in Qatari population including magnesium, chloride, c-peptide of insulin, insulin, and uric acid. Similarly, for obesity, significant associations and risk factors include insulin, c-peptide of insulin, albumin, and uric acid. Moreover, our study has revealed interactions of hypomagnesemia with HDL-C, triglycerides, and free thyroxine.ConclusionsOur study strongly confirms known associations and risk factors associated with diabetes and obesity in Qatari population as previously found in other population studies in different parts of the world. Moreover, interactions of hypomagnesemia with other associations and risk factors merit further investigations.

The Importance of Genetic Research into the Most Dominant Species of Human Intestinal Indigenous Microbiota

The Importance of Genetic Research into the Most Dominant Species of Human Intestinal Indigenous Microbiota

The Mosaic Ancestry of the Drosophila Genetic Reference Panel and the D. melanogaster Reference Genome Reveals a Network of Epistatic Fitness Interactions.

North American populations of Drosophila melanogaster derive from both European and African source populations, but despite their importance for genetic research, patterns of ancestry along their genomes are largely undocumented. Here, I infer geographic ancestry along genomes of the Drosophila Genetic Reference Panel (DGRP) and the D. melanogaster reference genome, which may have implications for reference alignment, association mapping, and population genomic studies in Drosophila. Overall, the proportion of African ancestry was estimated to be 20% for the DGRP and 9% for the reference genome. Combining my estimate of admixture timing with historical records, I provide the first estimate of natural generation time for this species (approximately 15 generations per year). Ancestry levels were found to vary strikingly across the genome, with less African introgression on the X chromosome, in regions of high recombination, and at genes involved in specific processes (e.g., circadian rhythm). An important role for natural selection during the admixture process was further supported by evidence that many unlinked pairs of loci showed a deficiency of Africa–Europe allele combinations between them. Numerous epistatic fitness interactions may therefore exist between African and European genotypes, leading to ongoing selection against incompatible variants. By focusing on hubs in this network of fitness interactions, I identified a set of interacting loci that include genes with roles in sensation and neuropeptide/hormone reception. These findings suggest that admixed D. melanogaster samples could become an important study system for the genetics of early-stage isolation between populations.

Beliefs and attitudes towards participating in genetic research – a population based cross-sectional study

BackgroundBiobanks have the potential to offer a venue for chronic disease biomarker discovery, which would allow for disease early detection and for identification of carriers of a certain predictor biomarker. To assess the general attitudes towards genetic research and participation in biobanks in the Long Island/Queens area of New York, and what factors would predict a positive view of such research, participants from the NSLIJ hospital system were surveyed.MethodsParticipants were recruited at six hospital centers in the NSLIJ system during the summers of 2009 and again in 2011 (n = 1,041). Those who opted to participate were given a questionnaire containing 22 questions assessing demographics, lifestyle and attitudes towards genetic research. These questions addressed individual participant’s beliefs about the importance of genetic research, willingness to participate in genetic research themselves, and their views on informed consent issues.ResultsRespondents took a generally positive view of genetic research in general, as well as their own participation in such research. Those with reservations were most likely to cite concerns over the privacy of their medical and genetic information. Those who were married tended to view genetic research as important, while those in the younger age group viewed it as less important. Prior blood donation of respondents was found to be a predictor of their approval for genetic research. Demographic factors were not found to be predictive of personal willingness to participate in genetic research, or of approval for the opt-out approach to consent.ConclusionsWhile respondents were generally inclined to approve of genetic research, and those who disapproved did not do so based on an underlying moral objection to such research, there is a disconnect between the belief in the importance of genetic research and the willingness of individuals to participate themselves. This indicates a continued concern for the ways in which genetic materials are safeguarded once they are collected. Also indicated was a general lack of understanding about the various consent processes that go along with genetic research, which should be addressed further to ensure the successful continuation of biobanks.

The CLDN5 locus may be involved in the vulnerability to schizophrenia

The present study was designed to detect three single nucleotide polymorphisms (SNPs) located on 22q11 that was thought as being of particularly importance for genetic research into schizophrenia. We recruited a total of 176 Chinese family trios of Han descent, consisting of mothers, fathers and affected offspring with schizophrenia for the genetic analysis. The transmission disequilibrium test (TDT) showed that of three SNPs, rs10314 in the 3′-untranslated region of the CLDN5 locus was associated with schizophrenia ( χ 2 = 4.75, P = 0.029). The other two SNPs, rs1548359 present in the CDC45L locus centromeric of rs10314 and rs739371 in the 5′-flanking region of the CLDN5 locus, did not show such an association. The global chi-square ( χ 2) test showed that the 3-SNP haplotype system was not associated with schizophrenia although the 1-df test for individual haplotypes showed that the rs1548359(C)-rs10314(G)-rs739371(C) haplotype was excessively non-transmitted ( χ 2 = 5.32, P = 0.02). Because the claudin proteins are a major component for barrier-forming tight junctions that could play a crucial role in response to changing natural, physiological and pathological conditions, the CLDN5 association with schizophrenia may be an important clue leading to look into a meeting point of genetic and environmental factors.

Genetics and Preventive Medicine: A Time for Inquiry

ANYONE WHO HAS BROWSED THE HUMAN GENOME SEQUENCE CAN READILY appreciate its immense power and potential as well as its staggering complexity, and imperfection. Nevertheless, following its release, British Prime Minister Tony Blair declared, “Today we are witnessing a revolution in medical science whose impact can far surpass the discovery of antibiotics.” And just 5 days prior, fears about the creation of a “genetic ghetto” swirled around London when one of Britain’s largest private life insurers to revealed that it had illegally used data from experimental genetic tests to evalute some insurance applications. Could genetic research rival the clinical utility of antibiotics or spawn a genetic underclass? We do not yet know. Only gradually, through painstaking research, will the true social and medical impact of genetic science be clarified. This issue of MSJAMA explores how researchers, policy makers, and clinicians are defining a role for genetics in preventive medicine. One essential component will be determining the risk conferred by particular genotypes. Complicating this process is the fact that many diseases may have multiple genetic etiologies or may arise from complex interactions between several genetic variants and environmental factors. Karen Steinberg, Marta Gwinn, and Muin Khoury discuss the role of the Centers for Disease Control in dissecting the genetic etiologies of common diseases. Wendy Rubinstein and Reynold LopezSoler explore the heterogeneous genetic causes of sudden cardiac death. However, even the most comprehensive genetic databases cannot be useful without the means to integrate that information into clinical practice. Sue Goldie and April Levine discuss analytic methods used to evaluate the clinical utility and cost effectiveness of genetic testing. John Phillips presents important clinical tools that can facilitate the application of genetic information to patient care. In examining the human genome project Freeman Dyson noted, “Technology only gives us tools. Human desires and institutions decide how we use them.” The use of poorly studied genetic tests to inflate insurance premiums, or fears that genetic research will result in genetic discrimination, constitute harmful reactions to incomplete data. Moreover, given the potential social and economic importance of genetic research, premature reactions to it will not be easily averted in the near future. In realizing the benefits of genetic testing in disease prevention, physicians and policy makers must establish mechanisms to evaluate and respond to the implications of new genetic information as soon as it becomes available. They can thereby protect the public, not only from disease, but also from alarmists and profiteers.

The Contribution of Genetics to Biological Psychiatry

One of the most striking developments in the framework of biological psychiatry, is the use of human as well as animal genetics' methodology in psychiatric research. After reviewing some basic concepts in human genetic research, we shall present the current status of our knowledge on the genetic determinants of the major psychoses, i.e., the affective psychoses and schizophrenia. The importance of genetic research into psychiatry can also be underscored from a biometric point of view in showing its contribution to the clarification of problem of nosology in attempting to subclassify abnormal behavior on a more etiological basis. Finally, a still open field essential to our comprehension of therapeutics emerges from the study of genetic mechanisms involved in drug metabolism and drug response.