3,603 research outputs found
Genetic and Environmental Contributions to Body Mass Index: Comparative Analysis of Monozygotic Twins, Dizygotic Twins and Same-Age Unrelated Siblings
Background—Earlier studies have established that a substantial percentage of variance in obesity-related phenotypes is explained by genetic components. However, only one study has used both virtual twins (VTs) and biological twins and was able to simultaneously estimate additive genetic, non-additive genetic, shared environmental and unshared environmental components in body mass index (BMI). Our current goal was to re-estimate four components of variance in BMI, applying a more rigorous model to biological and virtual multiples with additional data. Virtual multiples share the same family environment, offering unique opportunities to estimate common environmental influence on phenotypes that cannot be separated from the non-additive genetic component using only biological multiples.
Methods—Data included 929 individuals from 164 monozygotic twin pairs, 156 dizygotic twin pairs, five triplet sets, one quadruplet set, 128 VT pairs, two virtual triplet sets and two virtual quadruplet sets. Virtual multiples consist of one biological child (or twins or triplets) plus one same-aged adoptee who are all raised together since infancy. We estimated the additive genetic, non-additive genetic, shared environmental and unshared random components in BMI using a linear mixed model. The analysis was adjusted for age, age2, age3, height, height2, height3, gender and race.
Results—Both non-additive genetic and common environmental contributions were significant in our model (P-values \u3c 0.0001). No significant additive genetic contribution was found. In all, 63.6% (95% confidence interval (CI) 51.8–75.3%) of the total variance of BMI was explained by a non-additive genetic component, 25.7% (95% CI 13.8–37.5%) by a common environmental component and the remaining 10.7% by an unshared component.
Conclusion—Our results suggest that genetic components play an essential role in BMI and that common environmental factors such as diet or exercise also affect BMI. This conclusion is consistent with our earlier study using a smaller sample and shows the utility of virtual multiples for separating non-additive genetic variance from common environmental variance
The biological origin of linguistic diversity
In contrast with animal communication systems, diversity is characteristic of almost every aspect of human language. Languages variously employ tones, clicks, or manual signs to signal differences in meaning; some languages lack the noun-verb distinction (e.g., Straits Salish), whereas others have a proliferation of fine-grained syntactic categories (e.g., Tzeltal); and some languages do without morphology (e.g., Mandarin), while others pack a whole sentence into a single word (e.g., Cayuga). A challenge for evolutionary biology is to reconcile the diversity of languages with the high degree of biological uniformity of their speakers. Here, we model processes of language change and geographical dispersion and find a consistent pressure for flexible learning, irrespective of the language being spoken. This pressure arises because flexible learners can best cope with the observed high rates of linguistic change associated with divergent cultural evolution following human migration. Thus, rather than genetic adaptations for specific aspects of language, such as recursion, the coevolution of genes and fast-changing linguistic structure provides the biological basis for linguistic diversity. Only biological adaptations for flexible learning combined with cultural evolution can explain how each child has the potential to learn any human language
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Early Ultraviolet Observations of Type IIn Supernovae Constrain the Asphericity of Their Circumstellar Material
© 2020. The American Astronomical Society. All rights reserved.. We present a survey of the early evolution of 12 Type IIn supernovae (SNe IIn) at ultraviolet and visible light wavelengths. We use this survey to constrain the geometry of the circumstellar material (CSM) surrounding SN IIn explosions, which may shed light on their progenitor diversity. In order to distinguish between aspherical and spherical CSM, we estimate the blackbody radius temporal evolution of the SNe IIn of our sample, following the method introduced by Soumagnac et al. We find that higher-luminosity objects tend to show evidence for aspherical CSM. Depending on whether this correlation is due to physical reasons or to some selection bias, we derive a lower limit between 35% and 66% for the fraction of SNe IIn showing evidence for aspherical CSM. This result suggests that asphericity of the CSM surrounding SNe IIn is common - consistent with data from resolved images of stars undergoing considerable mass loss. It should be taken into account for more realistic modeling of these events
Considering the Case for Biodiversity Cycles: Reexamining the Evidence for Periodicity in the Fossil Record
Medvedev and Melott (2007) have suggested that periodicity in fossil
biodiversity may be induced by cosmic rays which vary as the Solar System
oscillates normal to the galactic disk. We re-examine the evidence for a 62
million year (Myr) periodicity in biodiversity throughout the Phanerozoic
history of animal life reported by Rohde & Mueller (2005), as well as related
questions of periodicity in origination and extinction. We find that the signal
is robust against variations in methods of analysis, and is based on
fluctuations in the Paleozoic and a substantial part of the Mesozoic.
Examination of origination and extinction is somewhat ambiguous, with results
depending upon procedure. Origination and extinction intensity as defined by RM
may be affected by an artifact at 27 Myr in the duration of stratigraphic
intervals. Nevertheless, when a procedure free of this artifact is implemented,
the 27 Myr periodicity appears in origination, suggesting that the artifact may
ultimately be based on a signal in the data. A 62 Myr feature appears in
extinction, when this same procedure is used. We conclude that evidence for a
periodicity at 62 Myr is robust, and evidence for periodicity at approximately
27 Myr is also present, albeit more ambiguous.Comment: Minor modifications to reflect final published versio
Widespread sex differences in gene expression and splicing in the adult human brain
There is strong evidence to show that men and women differ in terms of neurodevelopment, neurochemistry and susceptibility to neurodegenerative and neuropsychiatric disease. The molecular basis of these differences remains unclear. Progress in this field has been hampered by the lack of genome-wide information on sex differences in gene expression and in particular splicing in the human brain. Here we address this issue by using post-mortem adult human brain and spinal cord samples originating from 137 neuropathologically confirmed control individuals to study whole-genome gene expression and splicing in 12 CNS regions. We show that sex differences in gene expression and splicing are widespread in adult human brain, being detectable in all major brain regions and involving 2.5% of all expressed genes. We give examples of genes where sex-biased expression is both disease-relevant and likely to have functional consequences, and provide evidence suggesting that sex biases in expression may reflect sex-biased gene regulatory structures
Rapidly rotating second-generation progenitors for the blue hook stars of {\omega} Cen
Horizontal Branch stars belong to an advanced stage in the evolution of the
oldest stellar galactic population, occurring either as field halo stars or
grouped in globular clusters. The discovery of multiple populations in these
clusters, that were previously believed to have single populations gave rise to
the currently accepted theory that the hottest horizontal branch members (the
blue hook stars, which had late helium-core flash ignition, followed by deep
mixing) are the progeny of a helium-rich "second generation" of stars. It is
not known why such a supposedly rare event (a late flash followed by mixing) is
so common that the blue hook of {\omega} Cen contains \sim 30% of horizontal
branch stars 10 , or why the blue hook luminosity range in this massive cluster
cannot be reproduced by models. Here we report that the presence of helium core
masses up to \sim 0.04 solar masses larger than the core mass resulting from
evolution is required to solve the luminosity range problem. We model this by
taking into account the dispersion in rotation rates achieved by the
progenitors, whose premain sequence accretion disc suffered an early disruption
in the dense environment of the cluster's central regions where
second-generation stars form. Rotation may also account for frequent
late-flash-mixing events in massive globular clusters.Comment: 44 pages, 8 figures, 2 tables in Nature, online june 22, 201
Cis and Trans Effects of Human Genomic Variants on Gene Expression
This work was funded by the Louis-Jeantet Foundation (http://www.jeantet.ch/), the European Research Council (Grant ID: 260927 http://erc.europa.eu/), the Swiss National Foundation (Grant ID: 130342 http://www.snf.ch), NCCR Frontiers In Genetics (http://www.frontiers-in-genetics.org), the UK Medical Research Council (http://www.mrc.ac.uk) and the Wellcome Trust (Grant ID: 092731).
Parenthood and factors that influence outdoor recreational physical activity from a gender perspective
Background: A physically active life promotes both physical and mental health,
increasing well-being and quality of life. Physical activity (PA) performed
outdoors has been found to be particularly good for promoting well-being.
However, participation in PA can change during the course of a lifetime.
Parenthood has been found to be a life event associated with decreased PA,
especially among women, although studies in the field are sparse. The aim of
this study was to investigate participation in outdoor recreational PA, and
factors influencing participation among parents-to-be, with and without
previous children, from a gender perspective.
Methods: This study included baseline data from parents-to-be, 224 women and
208 men, from the municipality of Karlskrona in south-east Sweden. Data
collection was carried out during 2008-2009. We measured the self-reported
amount of outdoor recreational PA undertaken during the last year and analysed
the probability of participating in this PA using 25 variables covering
individual and socioeconomic factors.
Results: Seventy-six per cent of the women and 65% of the men had participated
in outdoor recreational PA, varying from several times per month to every day,
over a 12-month period prior to one month before pregnancy. Participation in PA
indoors and owning a dog or a horse emerged as the most important factors
associated with the probability of participation in outdoor recreational PA.
Men were affected by a greater number of factors than women, for example men
who had a family situation that permitted outdoor recreational PA participated
in activities to a greater extent than men without such a family situation. The
physical aspect, i.e. improved physical condition, staying power and vigour,
also played a significant role with regard to participation among men.
Conclusions: Becoming a parent is a life-changing event that affects
participation in PA. By offering family-oriented PA choices that involve both
parents and children, midwives and health promoters can encourage parents to be
active and to support each other. The promotion of outdoor recreational PA,
which also has restorative effects on well-being, needs to focus on activities
which are attractive and affordable for the majority of both women and men
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