399 research outputs found

    Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing.

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    Recent efforts to comprehensively characterize great ape genetic diversity using short-read sequencing and single-nucleotide variants have led to important discoveries related to selection within species, demographic history, and lineage-specific traits. Structural variants (SVs), including deletions and inversions, comprise a larger proportion of genetic differences between and within species, making them an important yet understudied source of trait divergence. Here, we used a combination of long-read and -range sequencing approaches to characterize the structural variant landscape of two additional Pan troglodytes verus individuals, one of whom carries 13% admixture from Pan troglodytes troglodytes. We performed optical mapping of both individuals followed by nanopore sequencing of one individual. Filtering for larger variants (>10 kbp) and combined with genotyping of SVs using short-read data from the Great Ape Genome Project, we identified 425 deletions and 59 inversions, of which 88 and 36, respectively, were novel. Compared with gene expression in humans, we found a significant enrichment of chimpanzee genes with differential expression in lymphoblastoid cell lines and induced pluripotent stem cells, both within deletions and near inversion breakpoints. We examined chromatin-conformation maps from human and chimpanzee using these same cell types and observed alterations in genomic interactions at SV breakpoints. Finally, we focused on 56 genes impacted by SVs in >90% of chimpanzees and absent in humans and gorillas, which may contribute to chimpanzee-specific features. Sequencing a greater set of individuals from diverse subspecies will be critical to establish the complete landscape of genetic variation in chimpanzees

    Per-Pixel, Dual-Counter Scheme for Optical Communications

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    Free space optical communications links from deep space are projected to fulfill future NASA communication requirements for 2020 and beyond. Accurate laser-beam pointing is required to achieve high data rates at low power levels.This innovation is a per-pixel processing scheme using a pair of three-state digital counters to implement acquisition and tracking of a dim laser beacon transmitted from Earth for pointing control of an interplanetary optical communications system using a focal plane array of single sensitive detectors. It shows how to implement dim beacon acquisition and tracking for an interplanetary optical transceiver with a method that is suitable for both achieving theoretical performance, as well as supporting additional functions of high data rate forward links and precision spacecraft ranging

    QENS and FTIR studies on binding states of benzene molecules adsorbed in zeolite HZSM-5 at room temperature

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    Fourier-transform infrared (FTIR) spectroscopy and quasi-elastic neutron scattering (QENS) were employed for monitoring of the binding states of benzene molecules, adsorbed in HZSM-5 zeolite at 300 K and for loadings of 0.6 to 7 molecules per unit cell. While the in-plane combination C-C and C-H stretching bands of adsorbed benzene remained una.ected, a splitting was observed in the out-of-plane C-H bending vibrational bands, a feature reported for the transformation of benzene from liquid to solid phase. Also, the intensity ratio of the in-plane C-C stretching band (ν19 of adsorbed benzene at 1479 cm-1 and the bands in the region ) 3100-3035 cm-1 due to fundamentals and combination C-C and C-H stretching vibrations indicated a trend observed typically for a condensed phase of benzene. No shift was observed in the frequency of the above-mentioned IR bands when zeolite samples exchanged with Na+ or Ca2+ were employed. QENS results suggest that the benzene molecules occluded in zeolitic pores (~3 molecules per unit cell) undergo a 6-fold rotation but their translation motion is too slow. Also, a high residence time of 16.5 ps was observed for the benzene entrapped in HZSM-5, compared to a time of ~2.5 ps reported for the liquid and ~19 ps for the solid state of benzene. These results reveal again the compression of the benzene molecules on adsorption in zeolitic pores. It is suggested that the benzene molecules confined in cavities experience a strong intermolecular interaction, giving rise eventually to their clustered state depending on the loading. In the clustered state, benzene molecules are packed with their plane parallel to zeolitic walls and interact with each other through p-electron clouds. No electronic bonding is envisaged between these clusters and the framework or the extra-framework zeolitic sites
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