Phenotypic variation is the result of gene expression based on complex interaction between genetic and environmental factors. It is well known that genetic and environmental factors influence gene expression, but our understanding of their relative importance remains limited. To obtain a hint for the understanding of their contributions, we took advantage of monozygotic twins, as they share genetic and shared environmental factors but differ in nonshared factors, such as environmental differences and stochastic factors. In this study, we performed cap analysis of gene expression on three pairs of twins and clustered each individual based on their expression profiles of annotated genes. The dendrogram of annotated gene transcripts showed a monophyletic clade for each twin pair. We also analyzed the expression of retrotransposons, such as human endogenous retroviruses (HERVs) and long interspersed nuclear elements (LINEs), given their abundance in the genome. Clustering analyses demonstrated that HERV and LINE expression diverged even within monozygotic twin pairs. Thus, HERVs and LINEs are more susceptible to nonshared factors than annotated genes. Motif analysis of differentially expressed annotated genes suggests that specificity protein/Krüppel-like factor family transcription factors are involved in the expression divergence of annotated gene influenced by nonshared factors. Collectively, our findings suggest that expressions of annotated genes and retrotransposons are differently regulated, and that the expression of retrotransposons is more susceptible to nonshared factors than annotated genes.

In this article, we examine whether there is genetic overlap between personality traits and political participation, interest, and efficacy. We make several contributions to the literature. First, we use new data from a large sample of twins from Denmark to examine the link between genes, the Big Five traits, and political behavior. Previous research in this area has not examined the Danish context. Second, because our measures have some overlap with those used in previous studies, we are able to examine whether previous findings replicate in a different sample. Finally, we extend the literature by examining the possible genetic link between some personality and political traits that have not yet been explored. Overall, we find that genes account for a fairly large share of the correlation between two of the Big Five personality traits (openness and extraversion), political participation, and political interest. Thus, most of the relationship between these personality traits and our measures of political behavior can be accounted for by a common underlying genetic component.

Genes in which rare, damaging variants substantially increase risk of developing schizophrenia have now been identified. These findings can influence how we think about mental illness in general as well as yielding specific insights into schizophrenia aetiology. Better understanding of underlying biology might eventually lead to improved treatments.

No previous research explored the genetic and environmental structure of Big Five dimensions of personality and higher-order factors in a single twin study, except, in part, for just one study. We used the twin design to estimate the effects of genes and environment on both Five Factor model and related second- and third-order factors (i.e., Alpha [stability], Beta [plasticity], and GFP [general factor of personality]). We analyzed data from 314 adult twins (157 pairs: 83 monozygotic, 74 dizygotic; mean age: 52 years) enrolled in the Italian Twin Register. Participants underwent clinical and instrumental evaluations, and completed a 25-adjective list drawn from the Short Adjectives Checklist to Measure Big Five (SACBIF). We applied quantitative genetic models to unravel the sources of variation and covariation for the Big Five and higher-order factors. We found a similar etiological architecture across the different levels of analysis, with moderate to substantial non-additive genetic and unique environmental influences on all the personality traits, and no shared environmental contribution for any of them. We also detected significant genetic correlations for the Big Five dimensions and the Alpha and Beta super-factors. With some limitations, our results suggest that the etiological architecture of personality may be invariant to the factor level of analysis.

This study investigates the mechanism by which maternal protein restriction induces hepatic autophagy-related gene expression in the offspring of rats. Pregnant Sprague-Dawley rats were fed either a control diet (C, 18 % energy from protein) or a low-protein diet (LP, 8·5 % energy from protein) during gestation, followed by the control diet during lactation and post-weaning. Liver tissue was collected from the offspring at postnatal day 38 and divided into four groups according to sex and maternal diet (F-C, F-LP, M-C and M-LP) for further analysis. Autophagy-related mRNA and protein levels were determined by real-time PCR and Western blotting, respectively. In addition, chromatin immunoprecipitation (ChIP) was performed to investigate the interactions between transcription factors and autophagy-related genes. Protein levels of p- eukaryotic translation initiation factor 2a and activating transcription factor 4 (ATF4) were increased only in the female offspring born to dams fed the LP diet. Correlatively, the mRNA expression of hepatic autophagy-related genes including Map1lc3b, P62/Sqstm1, Becn1, Atg3, Atg7 and Atg10 was significantly greater in the F-LP group than in the F-C group. Furthermore, ChIP results showed greater ATF4 and C/EBP homology protein (CHOP) binding at the regions of a set of autophagy-related genes in the F-LP group than in the F-C group. Our data demonstrated that a maternal LP diet transcriptionally programmed hepatic autophagy-related gene expression only in female rat offspring. This transcriptional programme involved the activation of the eIF2α/ATF4 pathway and intricate regulation by transcription factors ATF4 and CHOP.

Regulation of the transforming growth factor beta (TGFβ) superfamily by gonadotrophins in swine follicular cells is not fully understood. This study evaluated the expression of steroidogenic enzymes and members of the TGFβ superfamily in prepubertal gilts allocated to three treatments: 1200 IU eCG at D −3 (eCG); 1200 IU eCG at D −6 plus 500 IU hCG at D −3 (eCG + hCG); and the control, composed of untreated gilts. Blood samples and ovaries were collected at slaughter (D0) and follicular cells were recovered thereafter. Relative gene expression was determined by real-time PCR. Serum progesterone levels were greater in the eCG + hCG group compared with the other groups (P < 0.01). No differences were observed in the expression of BMP15, BMPR1A, BMPR2, FSHR, GDF9, LHCGR and TGFBR1 (P > 0.05). Gilts from the eCG group presented numerically greater mean expression of CYP11A1 mRNA than in the control group that approached statistical significance (P = 0.08) and greater expression of CYP19A1 than in both the eCG and the control groups (P < 0.05). Expression of BMPR1B was lower in the eCG + hCG treatment group compared with the control (P < 0.05). In conclusion, eCG treatment increased the relative expression of steroidogenic enzymes, whereas treatment with eCG + hCG increased serum progesterone levels. Although most of the evaluated TGFβ members were not regulated after gonadotrophin treatment, the downregulation of BMPR1B observed after treatment with eCG + hCG and suggests a role in luteinization regulation.

Mammary tissue (MT) turnover is characterized by programed cell death and remodeling which might be affected by both feeding level and animal species. Thus, twenty-four dairy goats and the same number of sheep were assigned to three homogenous sub-groups per animal species and fed the same diet in quantities which met 70% (FL70), 100% (FL100) and 130% (FL130) of their daily energy and crude protein requirements. Individual MT samples were taken by biopsy from the animals on the 30th and 60th experimental day. The results showed, in the first sampling time, a significant reduction in the mRNA abundance for selected genes involved in programed cell death in both FL 70 fed goats (STAT3 and BECN1) and sheep (CASPASE8 and BECN1) compared with the respective FL100 groups. The FL130, in comparison with the FL100, caused a significant increase in transcripts accumulation of STAT3 gene in both sampling times and CASPASE8 gene in the second sampling time in goat MT, while the opposite happened for the mRNA expression of CASPASE8 and BECN1 genes in sheep MT, but only in the first sampling time. Moreover, a significant up regulation in the mRNA levels of MMP2 gene in MT of FL130 fed sheep was observed. The FL130, in comparison with the FL70, caused an enhancement in the mRNA expression levels of BECN1, CASPASE8, BAX and STAT3 genes in goat MT only. It was also shown that apoptosis and autophagy can be affected simultaneously by the feeding level. Overfeeding affects MT programed cell death and remodeling by a completely different way in goats than sheep. In conclusion, feeding level and animal species have strong effects on both MT programed cell death (apoptosis and autophagy) and remodeling but the molecular mechanisms need further investigation.

The present study aimed to explore secular trends in age at voice change (AVC), estimate heritability of AVC and investigate to what extent common genes influence the association between AVC and body mass index (BMI) in South Korean males. The sample of 955 male twins consisted of 241 pairs and 118 co-twin missing monozygotic (MZ) twins, 82 pairs and 50 co-twin missing dizygotic (DZ) twins and 141 male members of opposite-sex DZ twins who participated in telephone surveys in the South Korean Twin Registry. AVC was asked of twins during the surveys. The mean (SD) age of the sample was 18.92 (2.42) years (range: 16.00–29.25 years). The birth years of the twins were divided into two groups (1988–1993, 1994–2001). Kaplan–Meyer survival analyses were conducted to compute the mean age of AVC in the total sample as well as to test mean differences between the two birth cohorts. Maximum likelihood twin correlations and univariate and bivariate model-fitting analyses were performed. The mean AVC in the total sample was 14.19 (95% CI [14.09, 14.29]) years. The mean AVC significantly declined from 14.38 to 14.02 years from 1988 to 2001, confirming downward trends in AVC in recent years. Heritability for AVC was .59 (95% CI [.50, .67]), which was within the range reported in most Western twin studies. Although the phenotypic correlation between AVC and BMI was modest (r = −.14; 95% CI [−.07, −.21]), it was entirely mediated by common genes, similar to what has been found in females in prior twin studies. In conclusion, the present twin study underscores the importance of genetic influences on pubertal timing and its association with BMI in South Korean males.

Between 1880 and 1920 the medical quest to unearth the causes of disease saw two pathbreaking discoveries. One was the bacteriological revolution – the identification of specific germs as causal agents of specific diseases (anthrax, tuberculosis, diphtheria, cholera and so on), and the simultaneous effort to develop disinfection techniques and immunisation measures to combat these diseases. The other was the rediscovery of Mendel’s laws of heredity and the resulting emergence of medical genetics, where an entire set of medical maladies (deafness, blindness, bodily deformities, haemophilia, Huntington’s chorea, feeble-mindedness and many mental diseases) were identified – rightly or wrongly – as genetically determined. The ‘germ theory of disease’ and the ‘gene theory of disease’ shared striking, all-too-often overlooked similarities. Both theories built on shared epistemological assumptions that influenced their explanatory mechanisms and their overall conceptual frameworks; both mobilised similar visual and linguistic vocabulary; both appropriated – and enforced – prevailing cultural and gender norms; and both enshrined broadly parallel hygienic practices. Reflecting similar social concerns, medical bacteriology and medical genetics acquired kindred scientific and societal configurations, which this paper highlights and scrutinises.