Behavior Genetics and Post Genomics

The science of genetics is undergoing a paradigm shift. Recent discoveries, including the activity of retrotransposons, the extent of copy number variations, somatic and chromosomal mosaicism, and the nature of the epigenome as a regulator of DNA expressivity, are challenging a series of dogmas concerning the nature of the genome and the relationship between genotype and phenotype. DNA, once held to be the unchanging template of heredity, now appears subject to a good deal of environmental change; considered to be identical in all cells and tissues of the body, there is growing evidence that somatic mosaicism is the normal human condition; and treated as the sole biological agent of heritability, we now know that the epigenome, which regulates gene expressivity, can be inherited via the germline. These developments are particularly significant for behavior genetics for at least three reasons: First, these phenomena appear to be particularly prevalent in the human brain, and likely are involved in much of human behavior; second, they have important implications for the validity of heritability and gene association studies, the methodologies that largely define the discipline of behavior genetics; and third, they appear to play a critical role in development during the perinatal period, and in enabling phenotypic plasticity in offspring in particular. I examine one of the central claims to emerge from the use of heritability studies in the behavioral sciences, the principle of “minimal shared maternal effects,” in light of the growing awareness that the maternal perinatal environment is a critical venue for the exercise of adaptive phenotypic plasticity. This consideration has important implications for both developmental and evolutionary biology

Behavioural Genetics in the Postgenomics Era

There is growing evidence that the complexity of higher organisms does not correlate with the ‘complexity’ of the genome (the human genome contains fewer protein coding genes than corn, and many genes are preserved across species). Rather, complexity is associated with the complexity of the pathways and processes whereby the cell utilises the deoxyribonucleic acid molecule, and much else, in the process of phenotype formation. These pro- cesses include the activity of the epigenome, noncoding ribonucleic acids, alternative splicing and post-transla- tional modifications. Not accidentally, all of these pro- cesses appear to be of particular importance for the human brain, the most complex organ in nature. Because these processes can be highly environmentally reactive, they are a key to understanding behavioural plasticity and highlight the importance of the developmental process in explaining behavioural outcomes.

Genetics and the Life Course

A life-course perspective is committed to the proposition that from conception to death, all human outcomes are the result of a continual interaction between the indi- vidual and all of the environments that he or she inhabits at any given point in time. Early development is a critical period, a window of time during the life course when a given exposure can have a critical or permanent in uence on later outcomes. But the impact of exposures upon outcomes does not end at any speci c point in time, inasmuch as life is a continuing interactive and adaptive process. We now know that what applies to human beings also applies to their genomes. The “outcome” of any gene at any given point in time (whether or not it is used to transcribe a particular protein, what form of that protein, and how much) is a product of the interaction between the gene and the multiple environments of which it is a part, which include the epigenome, the cell, the biological human, and the assorted environments he or she occupies (e.g., geographical, socioeconomic, ethnic, etc.). Early life experiences can permanently “reprogram” the epigenome and gene transcription with life-long behavioral consequences. At the same time, the epigenome as well as the genome continue to be environmentally responsive throughout the life course.

Crisis communication in politics: forgiveness as image restoration tool

Crisis communication is a widely treated field. There are lot of works and guides which provide helpful information in order to face crisis situations successfully (Alcat, 2005, Benoit, 1997) and articles about case studies (Nespereira, 2014, Blaney y Benoit 2001). Nonetheless, most of times, these guides are focused on business or corporations (Abeler, 2010) and there are not such information about crisis communications in politics (Gaspar e Ibeas, 2015). The field is smaller if we speak about forgiveness as restoration image tool in politics (Harris 2006). Despite all, we live in “forgiveness era” as Krauze said (1998) where people demand to politicians to apologize when they have mistakes (Harris et al. 2006:716). So, we will try to make an approach to forgiveness in politics as a image restoration tool and analyze its capabilities in order to face crisis management.

A Validation Study of Vascular Cognitive Impairment Genetics Meta-Analysis Findings in an Independent Collaborative Cohort

Vascular cognitive impairment (VCI), including its severe form, vascular dementia (VaD), is the second most common form of dementia. The genetic etiology of sporadic VCI remains largely unknown. We previously conducted a systematic review and meta-analysis of all published genetic association studies of sporadic VCI prior to 6 July 2012, which demonstrated that APOE (ɛ4, ɛ2) and MTHFR (rs1801133) variants were associated with susceptibility for VCI. De novo genotyping was conducted in a new independent relatively large collaborative European cohort of VaD (nmax = 549) and elderly non-demented samples (nmax = 552). Where available, genotype data derived from Illumina's 610-quad array for 1210 GERAD1 control samples were also included in analyses of genes examined. Associations were tested using the Cochran-Armitage trend test: MTHFR rs1801133 (OR = 1.36, 95% CI 1.16-1.58, p = <0.0001), APOE rs7412 (OR = 0.62, 95% CI 0.42-0.90, p = 0.01), and APOE rs429358 (OR = 1.59, 95% CI 1.17-2.16, p = 0.003). Association was also observed with APOE epsilon alleles; ɛ4 (OR = 1.85, 95% CI 1.35-2.52, p = <0.0001) and ɛ2 (OR = 0.67, 95% CI 0.46-0.98, p = 0.03). Logistic Regression and Bonferroni correction in a subgroup of the cohort adjusted for gender, age, and population maintained the association of APOE rs429358 and ɛ4 allele.

Genetics and Prognostication in Splenic Marginal Zone Lymphoma: Revelations from Deep Sequencing

Purpose: Mounting evidence supports the clinical significance of gene mutations and immunogenetic features in common mature B-cell malignancies.

Experimental Design: We undertook a detailed characterization of the genetic background of splenic marginal zone lymphoma (SMZL), using targeted resequencing and explored potential clinical implications in a multinational cohort of 175 patients with SMZL.

Results: We identified recurrent mutations in TP53 (16%), KLF2 (12%), NOTCH2 (10%), TNFAIP3 (7%), MLL2 (11%), MYD88 (7%), and ARID1A (6%), all genes known to be targeted by somatic mutation in SMZL. KLF2 mutations were early, clonal events, enriched in patients with del(7q) and IGHV1-2*04 B-cell receptor immunoglobulins, and were associated with a short median time to first treatment (0.12 vs. 1.11 years; P = 0.01). In multivariate analysis, mutations in NOTCH2 [HR, 2.12; 95% confidence interval (CI), 1.02–4.4; P = 0.044] and 100% germline IGHV gene identity (HR, 2.19; 95% CI, 1.05–4.55; P = 0.036) were independent markers of short time to first treatment, whereas TP53 mutations were an independent marker of short overall survival (HR, 2.36; 95 % CI, 1.08–5.2; P = 0.03).

Conclusions: We identify key associations between gene mutations and clinical outcome, demonstrating for the first time that NOTCH2 and TP53 gene mutations are independent markers of reduced treatment-free and overall survival, respectively.

Genetics

Single poem included in this anthology which is currently a set text on the English 'A' level schools curriculum (England).

Application of low temperature plasmas for restoration/conservation of archaeological objects

The low-temperature low-pressure hydrogen based plasmas were used to study the influence of processes and discharge conditions on corrosion removal. The capacitive coupled RF discharge in the continuous or pulsed regime was used at operating pressure of 100-200 Pa. Plasma treatment was monitored by optical emission spectroscopy. To be able to study influence of various process parameters, the model corroded samples with and without sandy incrustation were prepared. The SEM-EDX analyzes were carried out to verify corrosion removal efficiency. Experimental conditions were optimized for the selected most frequent materials of original metallic archaeological objects (iron, bronze, copper, and brass). Chlorides removal is based on hydrogen ion reactions while oxides are removed mainly by neutral species interactions. A special focus was kept for the samples temperature because it was necessary to avoid any metallographic changes in the material structure. The application of higher power pulsed regime with low duty cycle seems be the best treatment regime. The low pressure hydrogen plasma is not applicable for objects with a very broken structure or for nonmetallic objects due to the non-uniform heat stress. Due to this fact, the new developed plasmas generated in liquids were applied on selected original archaeological glass materials.

Conservation genetics of North Atlantic loggerhead sea turtles: analysis of nuclear and mitochondrial DNA

[EN] Complex population structure has been described for the loggerhead sea turtle (Caretta caretta), revealing lower levels of population genetic structure in nuclear compared to mitochondrial DNA assays. This may result from mating during spatially overlapping breeding migrations, or male-biased dispersal as previously found for the green turtle (Chelonia mydas). To further investigate these multiple possibilities, we carried out a comparative analysis from twelve newly developed microsatellite loci and the mitochondrial DNA control region (~804 bp) in adult females of the Cape Verde Islands (n=158), and Georgia, USA (n=17).