28 research outputs found
Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits
This work is licensed under a Creative Commons Attribution 4.0 International License.It has been hypothesized that individually-rare hidden structural variants (SVs) could account for a significant fraction of variation in complex traits. Here we identified more than 20,000 euchromatic SVs from 14 Drosophila melanogaster genome assemblies, of which ~40% are invisible to high specificity short-read genotyping approaches. SVs are common, with 31.5% of diploid individuals harboring a SV in genes larger than 5kb, and 24% harboring multiple SVs in genes larger than 10kb. SV minor allele frequencies are rarer than amino acid polymorphisms, suggesting that SVs are more deleterious. We show that a number of functionally important genes harbor previously hidden structural variants likely to affect complex phenotypes. Furthermore, SVs are overrepresented in candidate genes associated with quantitative trait loci mapped using the Drosophila Synthetic Population Resource. We conclude that SVs are ubiquitous, frequently constitute a heterogeneous allelic series, and can act as rare alleles of large effect
Connecting Planetary Composition with Formation
The rapid advances in observations of the different populations of
exoplanets, the characterization of their host stars and the links to the
properties of their planetary systems, the detailed studies of protoplanetary
disks, and the experimental study of the interiors and composition of the
massive planets in our solar system provide a firm basis for the next big
question in planet formation theory. How do the elemental and chemical
compositions of planets connect with their formation? The answer to this
requires that the various pieces of planet formation theory be linked together
in an end-to-end picture that is capable of addressing these large data sets.
In this review, we discuss the critical elements of such a picture and how they
affect the chemical and elemental make up of forming planets. Important issues
here include the initial state of forming and evolving disks, chemical and dust
processes within them, the migration of planets and the importance of planet
traps, the nature of angular momentum transport processes involving turbulence
and/or MHD disk winds, planet formation theory, and advanced treatments of disk
astrochemistry. All of these issues affect, and are affected by the chemistry
of disks which is driven by X-ray ionization of the host stars. We discuss how
these processes lead to a coherent end-to-end model and how this may address
the basic question.Comment: Invited review, accepted for publication in the 'Handbook of
Exoplanets', eds. H.J. Deeg and J.A. Belmonte, Springer (2018). 46 pages, 10
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Long-term stasis in ecological assemblages: Evidence from the fossil record
Studies of plant and animal assemblages from both the terrestrial and the marine fossil records reveal persistence for extensive periods of geological time, sometimes millions of years. Persistence does not require lack of change or the absence of variation from one occurrence of the assemblage to the next in geological time. It does, however, imply that assemblage composition is bounded and that variation occurs within those bounds. The principal cause for these patterns appears to be species-, and perhaps clade-level, environmental fidelity that results in long-term tracking of physical conditions. Other factors that influence persistent recurrence of assemblages are historical, biogeographic effects, the law of large numbers, niche differentiation, and biotic interactions. Much research needs to be done in this area, and greater uniformity is needed in the approaches to studying the problem. However, great potential also exists for enhanced interaction between paleoecology and neoecology in understanding spatiotemporal complexity of ecological dynamics