Organization and Nucleotide Sequence of the Human Hermansky-Pudlak Syndrome (HPS) Gene

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding tendency, and lysosomal ceroid storage disease, associated with defects of multiple cytoplasmic organelles-melanosomes, platelet-dense granules, and lysosomes. HPS is frequently fatal and is the most common single-gene disorder in Puerto Rico. We previously characterized the human HPS cDNA and identified pathologic mutations in the gene in patients with HPS. The HPS protein is a novel apparent transmembrane polypeptide that seems to be crucial for normal organellar development. Here we describe the structural organization, nucleotide sequence, and polymorphisms of the human HPS gene. The gene consists of 20 exons spanning about 30.5kb in chromosome segment l0q23.1-q23.3. One of the intervening sequences is a member of the novel, very rare class of so-called “AT-AC” introns, defined by highly atypical 5' and 3' splice site and branch site consensus sequences that provide novel targets for possible pathologic gene mutations. This information provides the basis for molecular analyses of patients with HPS and will greatly facilitate diagnosis and carrier detection of this severe disorder

Lightweight Photometric Stereo for Facial Details Recovery

Recently, 3D face reconstruction from a single image has achieved great success with the help of deep learning and shape prior knowledge, but they often fail to produce accurate geometry details. On the other hand, photometric stereo methods can recover reliable geometry details, but require dense inputs and need to solve a complex optimization problem. In this paper, we present a lightweight strategy that only requires sparse inputs or even a single image to recover high-fidelity face shapes with images captured under near-field lights. To this end, we construct a dataset containing 84 different subjects with 29 expressions under 3 different lights. Data augmentation is applied to enrich the data in terms of diversity in identity, lighting, expression, etc. With this constructed dataset, we propose a novel neural network specially designed for photometric stereo based 3D face reconstruction. Extensive experiments and comparisons demonstrate that our method can generate high-quality reconstruction results with one to three facial images captured under near-field lights. Our full framework is available at https://github.com/Juyong/FacePSNet.Comment: Accepted to CVPR2020. The source code is available https://github.com/Juyong/FacePSNe

Mutations in an AP2 Transcription Factor-Like Gene Affect Internode Length and Leaf Shape in Maize

Background Plant height is an important agronomic trait that affects yield and tolerance to certain abiotic stresses. Understanding the genetic control of plant height is important for elucidating the regulation of maize development and has practical implications for trait improvement in plant breeding. Methodology/Principal Findings In this study, two independent, semi-dwarf maize EMS mutants, referred to as dwarf & irregular leaf (dil1), were isolated and confirmed to be allelic. In comparison to wild type plants, the mutant plants have shorter internodes, shorter, wider and wrinkled leaves, as well as smaller leaf angles. Cytological analysis indicated that the leaf epidermal cells and internode parenchyma cells are irregular in shape and are arranged in a more random fashion, and the mutants have disrupted leaf epidermal patterning. In addition, parenchyma cells in the dil1 mutants are significantly smaller than those in wild-type plants. The dil1 mutation was mapped on the long arm of chromosome 6 and a candidate gene, annotated as an AP2 transcription factor-like, was identified through positional cloning. Point mutations near exon-intron junctions were identified in both dil1 alleles, resulting in mis-spliced variants. Conclusion An AP2 transcription factor-like gene involved in stalk and leaf development in maize has been identified. Mutations near exon-intron junctions of the AP2 gene give mis-spliced transcript variants, which result in shorter internodes and wrinkled leaves

(S)-2-[(S,E)-4-(4-Chloro­phen­yl)-1-nitro­but-3-en-2-yl]cyclo­hexa­none

The title compound, C16H18ClNO3, was obtained by the organocatalytic asymmetric Michael addition of cyclo­hexa­none to 1-chloro-4-[(1E,3E)-4-nitro­buta-1,3-dien­yl]benzene. The double bond has an E configuration. The cyclo­hexa­none ring adopts a chair conformation. The conformation of the mol­ecule is stabilized by a weak intra­molecular C—H⋯O hydrogen bond

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

Background: Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases. Rare mutations in a single gene or in copy number variants (CNVs) have been implicated in IS of children in Western countries. The objective of this study was to dissect the role of copy number variations in Chinese children with infantile spasms. Methods: We used the Agilent Human Genome CGH microarray 180 K for genome-wide detection of CNVs. Real-time qPCR was used to validate the CNVs. We performed genomic and medical annotations for individual CNVs to determine the pathogenicity of CNVs related to IS. Results: We report herein the first genome-wide CNV analysis in children with IS, detecting a total of 14 CNVs in a cohort of 47 Chinese children with IS. Four CNVs (4/47 = 8.5%) (1q21.1 gain; 1q44, 2q31.1, and 17p13 loss) are considered to be pathogenic. The CNV loss at 17p13.3 contains PAFAH1B1 (LIS1), a causative gene for lissencephaly. Although the CNVs at 1q21.1, 1q44, and 2q23.1 have been previously implicated in a wide spectrum of clinical features including autism spectrum disorders (ASD) and generalized seizure, our study is the first report identifying them in individuals with a primary diagnosis of IS. The CNV loss in the 1q44 region contains HNRNPU, a strong candidate gene recently suggested in IS by the whole exome sequencing of children with IS. The CNV loss at 2q23.1 includes MBD5, a methyl-DNA binding protein that is a causative gene of ASD and a candidate gene for epileptic encephalopathy. We also report a distinct clinical presentation of IS, microcephaly, intellectual disability, and absent hallux in a case with the 2q23.1 deletion. Conclusion: Our findings strongly support the role of CNVs in infantile spasms and expand the clinical spectrum associate with 2q23.1 deletion. In particular, our study implicates the HNRNPU and MBD5 genes in Chinese children with IS. Our study also supports that the molecular mechanisms of infantile spasms appear conserved among different ethnic backgrounds

Real-time face view correction for front-facing cameras

Face view is particularly important in person-to-person communication. Disparity between the camera location and the face orientation can result in undesirable facial appearances of the participants during video conferencing. This phenomenon becomes particularly notable on devices where the front-facing camera is placed at unconventional locations such as below the display or within the keyboard. In this paper, we takes the video stream from a single RGB camera as input, and generates a video stream that emulates the view from a virtual camera at a designated location. The most challenging issue of this problem is that the corrected view often needs out-of-plane head rotations. To address this challenge, we reconstruct 3D face shape and re-render it into synthesized frames according to the virtual camera location. To output the corrected video stream with natural appearance in real-time, we propose several novel techniques including accurate eyebrow reconstruction, high-quality blending between corrected face image and background, and a template-based 3D reconstruction of glasses. Our system works well for different lighting conditions and skin tones, and is able to handle users wearing glasses. Extensive experiments and user studies demonstrate that our proposed method can achieve high-quality results

Mesenchymal stromal cells facilitate neutrophil-trained immunity by reprogramming hematopoietic stem cells

Novel therapeutics are urgently needed to prevent opportunistic infections in immunocompromised individuals undergoing cancer treatments or other immune-suppressive therapies. Trained immunity is a promising strategy to reduce this burden of disease. We previously demonstrated that mesenchymal stromal cells (MSCs) preconditioned with a class A CpG oligodeoxynucleotide (CpG-ODN), a Toll-like receptor 9 (TLR9) agonist, can augment emergency granulopoiesis in a murine model of neutropenic sepsis. Here, we used a chimeric mouse model to demonstrate that MSCs secrete paracrine factors that act on lineage-negative c-kit+ hematopoietic stem cells (HSCs), leaving them “poised” to enhance emergency granulopoiesis months after transplantation. Chimeric mice developed from HSCs exposed to conditioned media from MSCs and CpG-ODN-preconditioned MSCs showed significantly higher bacterial clearance and increased neutrophil granulopoiesis following lung infection than control mice. By Cleavage Under Targets and Release Using Nuclease (CUT&RUN) chromatin sequencing, we identified that MSC-conditioned media leaves H3K4me3 histone marks in HSCs at genes involved in myelopoiesis and in signaling persistence by the mTOR pathway. Both soluble factors and extracellular vesicles from MSCs mediated these effects on HSCs and proteomic analysis by mass spectrometry revealed soluble calreticulin as a potential mediator. In summary, this study demonstrates that trained immunity can be mediated by paracrine factors from MSCs to induce neutrophil-trained immunity by reprogramming HSCs for long-lasting functional changes in neutrophil-mediated antimicrobial immunity

Are Brightest Halo Galaxies Central Galaxies?

It is generally assumed that the central galaxy in a dark matter halo, that is, the galaxy with the lowest specific potential energy, is also the brightest halo galaxy (BHG), and that it resides at rest at the centre of the dark matter potential well. This central galaxy paradigm (CGP) is an essential assumption made in various fields of astronomical research. In this paper we test the validity of the CGP using a large galaxy group catalogue constructed from the Sloan Digital Sky Survey. For each group we compute two statistics, ${\cal R}$ and ${\cal S}$, which quantify the offsets of the line-of-sight velocities and projected positions of brightest group galaxies relative to the other group members. By comparing the cumulative distributions of $|{\cal R}|$ and $|{\cal S}|$ to those obtained from detailed mock group catalogues, we rule out the null-hypothesis that the CGP is correct. Rather, the data indicate that in a non-zero fraction $f_{\rm BNC}(M)$ of all haloes of mass $M$ the BHG is not the central galaxy, but instead, a satellite galaxy. In particular, we find that $f_{\rm BNC}$ increases from $\sim 0.25$ in low mass haloes (10^{12} h^{-1} {\rm M_{\odot}} \leq M \lsim 2 \times 10^{13} h^{-1}{\rm M_{\odot}}) to $\sim 0.4$ in massive haloes (M \gsim 5 \times 10^{13} h^{-1} {\rm M_{\odot}}). We show that these values of $f_{\rm BNC}$ are uncomfortably high compared to predictions from halo occupation statistics and from semi-analytical models of galaxy formation. We end by discussing various implications of a non-zero $f_{\rm BNC}(M)$, with an emphasis on the halo masses inferred from satellite kinematics.Comment: 17 pages, 11 figures. Axes labels of Fig. 3 fixe