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Shahida Moosa, Helena Böhrer-Rabel, Janine Altmüller, Filippo Beleggia, Peter Nürnberg, Yun Li, Gökhan Yigit, Bernd Wollnik
Heterozygous germline mutations in MTOR have been shown to underlie Smith-Kingsmore syndrome, a rare autosomal dominant syndrome characterized by macrocephaly, developmental delay, and dysmorphic facial features. Recently, two unrelated families with the MTOR mutation, c.5395G>A p.(Glu1799Lys), were reported. Here, we describe siblings from a non-consanguineous German family in whom we identified the same heterozygous missense mutation in MTOR. Remarkably, in all reported families with Smith-Kingsmore syndrome and the MTOR c...
October 18, 2016: American Journal of Medical Genetics. Part A
Carlos Neira, Jennifer Cossaboon, Guillermo Mendoza, Eunha Hoh, Lisa A Levin
Polycyclic aromatic hydrocarbons (PAHs) have garnered much attention due to their bioaccumulation, carcinogenic properties, and persistence in the environment. Investigation of the spatial distribution, composition, and sources of PAHs in sediments of three recreational marinas in San Diego Bay, California revealed significant differences among marinas, with concentrations in one site exceeding 16,000ngg(-1). 'Hotspots' of PAH concentration suggest an association with stormwater outfalls draining into the basins...
October 14, 2016: Marine Pollution Bulletin
Hao Zhang, Hua Yue, Chun Wang, Weiwei Hu, Jiemei Gu, Jinwei He, Wenzhen Fu, Yunqiu Hu, Miao Li, Zhenlin Zhang
Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by brittle bone fractures. The aim of the present study was to investigate the pathogenic gene mutation spectrum and clinical manifestations of mutations in collagen type I, alpha 1 (COL1A1) and collagen type I, alpha 2 (COL1A2) genes in Chinese patients with OI. A total of 61 unrelated Chinese OI patients with COL1A1 and COL1A2 mutations were recruited. All the exons and the exon-intron boundaries of the COL1A1 and COL1A2 genes were amplified and directly sequenced and lumbar spine bone mineral density was measured by dual‑energy X‑ray absorptiometry...
October 12, 2016: Molecular Medicine Reports
Mara Cavallin, Emilia K Bijlsma, Adrienne El Morjani, Sébastien Moutton, Els A J Peeters, Camille Maillard, Jean Michel Pedespan, Anne-Marie Guerrot, Valérie Drouin-Garaud, Christine Coubes, David Genevieve, Christine Bole-Feysot, Cecile Fourrage, Julie Steffann, Nadia Bahi-Buisson
Kinesins play a critical role in the organization and dynamics of the microtubule cytoskeleton, making them central players in neuronal proliferation, neuronal migration, and postmigrational development. Recently, KIF2A mutations were identified in cortical malformation syndromes associated with microcephaly. Here, we detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly. In parallel, we re-evaluated the two previously reported cases showing de novo mutations of the same residues...
October 17, 2016: Neurogenetics
Julian Lange, Shintaro Yamada, Sam E Tischfield, Jing Pan, Seoyoung Kim, Xuan Zhu, Nicholas D Socci, Maria Jasin, Scott Keeney
Heritability and genome stability are shaped by meiotic recombination, which is initiated via hundreds of DNA double-strand breaks (DSBs). The distribution of DSBs throughout the genome is not random, but mechanisms molding this landscape remain poorly understood. Here, we exploit genome-wide maps of mouse DSBs at unprecedented nucleotide resolution to uncover previously invisible spatial features of recombination. At fine scale, we reveal a stereotyped hotspot structure-DSBs occur within narrow zones between methylated nucleosomes-and identify relationships between SPO11, chromatin, and the histone methyltransferase PRDM9...
October 12, 2016: Cell
Miaomiao Liu, Yining Huang, Zongwei Ma, Zhou Jin, Xingyu Liu, Haikun Wang, Yang Liu, Jinnan Wang, Matti Jantunen, Jun Bi, Patrick L Kinney
While recent assessments have quantified the burden of air pollution at the national scale in China, air quality managers would benefit from assessments that disaggregate health impacts over regions and over time. We took advantage of a new 10×10km satellite-based PM2.5 dataset to analyze spatial and temporal trends of air pollution health impacts in China, from 2004 to 2012. Results showed that national PM2.5 related deaths from stroke, ischemic heart disease and lung cancer increased from approximately 800,000 cases in 2004 to over 1...
October 13, 2016: Environment International
Sonika Ahlawat, Sachinandan De, Priyanka Sharma, Rekha Sharma, Reena Arora, R S Kataria, T K Datta, R K Singh
Hybrid sterility or reproductive isolation in mammals has been attributed to allelic incompatibilities in a DNA-binding protein PRDM9. Not only is PRDM9 exceptional in being the only known 'speciation gene' in vertebrates, but it is also considered to be the fastest evolving gene in the genome. The terminal zinc finger (ZF) domain of PRDM9 specifies genome-wide meiotic recombination hotspot locations in mammals. Intriguingly, PRDM9 ZF domain is highly variable between as well as within species, possibly activating different recombination hotspots...
October 15, 2016: Molecular Genetics and Genomics: MGG
Carl Erik Olsen, Xiao-Chen Huang, Cecilie I C Hansen, Don Cipollini, Marian Ørgaard, Annemarie Matthes, Fernando Geu-Flores, Marcus A Koch, Niels Agerbirk
As a basis for future investigations of evolutionary trajectories and biosynthetic mechanisms underlying variations in glucosinolate structures, we screened members of the crucifer tribe Cardamineae by HPLC-MS/MS, isolated and identified glucosinolates by NMR, searched the literature for previous data for the tribe, and collected HPLC-MS/MS data for nearly all glucosinolates known from the tribe as well as some related structures (70 in total). This is a considerable proportion of the approximately 142 currently documented natural glucosinolates...
October 13, 2016: Phytochemistry
Benny O Manin, Heather M Ferguson, Indra Vythilingam, Kim Fornace, Timothy William, Steve J Torr, Chris Drakeley, Tock H Chua
BACKGROUND: In recent years, the primate malaria Plasmodium knowlesi has emerged in human populations throughout South East Asia, with the largest hotspot being in Sabah, Malaysian Borneo. Control efforts are hindered by limited knowledge of where and when people get exposed to mosquito vectors. It is assumed that exposure occurs primarily when people are working in forest areas, but the role of other potential exposure routes (including domestic or peri-domestic transmission) has not been thoroughly investigated...
October 2016: PLoS Neglected Tropical Diseases
Stephanie C J M Speth, Roy F P M Kruitwagen, Marjolein Kleppe, Ivo N A Pooters, Toon Van Gorp, Brigitte F M Slangen, Boudewijn Brans
PURPOSE: Tracer injection into ovarian ligaments has been shown to detect sentinel nodes (SNs) in patients with ovarian cancer. To determine the possibility that SNs are missed, this feasibility study compared their detection during surgery with postoperative SPECT/CT. METHODS: In eight patients (either ovarian or endometrial cancer), after a staging lymphadenectomy including resection of SNs related to the ovary, SPECT/CT scans were performed within 24 hours. RESULTS: SPECT/CT identified hotspots in four patients at sites where SNs were resected...
October 13, 2016: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
Cassiano Moro Piekarski, Antonio Carlos de Francisco, Leila Mendes da Luz, João Luiz Kovaleski, Diogo Aparecido Lopes Silva
Brazil is one of the largest producers of medium-density fibreboard (MDF) in the world, and also the MDF has the highest domestic consumption and production rate in the country. MDF applications are highlighted into residential and commercial furniture design and also a wide participation in the building sector. This study aimed to propose ways of improving the environmental cradle-to-gate life-cycle of one cubic meter MDF panel by means of a life-cycle assessment (LCA) study. Complying with requirements of ISO 14040 and 14,044 standards, different MDF manufacturing scenarios were modelled using Umberto® v...
October 10, 2016: Science of the Total Environment
Kyosuke Sakai, Kensuke Nomura, Takeaki Yamamoto, Tatsuya Omura, Keiji Sasaki
We report a scheme to exploit low radiative loss plasmonic resonance by combining a dark (subradiant) mode and a lattice resonance. We theoretically demonstrate that such dark-mode lattice resonances in periodic arrays of nanodisks or plasmonic crystals can be excited by vertically incident light beams. We investigate the excitation of lattice resonances in a finite sized, square-lattice plasmonic crystal by two types of cylindrical vector beams and a linearly polarized Gaussian beam. Quadrupole lattice resonances are excited by all three beams, and the largest peak intensity is obtained by using a specific type of cylindrical vector beam...
October 13, 2016: Scientific Reports
Zhichao Xiao, Wenting Guo, Bo Sun, Donald J Hunt, Jinhong Wei, Yingjie Liu, Yundi Wang, Ruiwu Wang, Peter P Jones, Thomas G Back, S R Wayne Chen
Recent three-dimensional structural studies reveal that the Central domain of ryanodine receptor (RyR) serves as a transducer that converts long-range conformational changes into the gating of the channel pore. Interestingly, the Central domain encompasses one of the mutation hotspots (corresponding to amino acid residues 3778-4201) that contains a number of cardiac RyR (RyR2) mutations associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) and atrial fibrillation (AF). However, the functional consequences of these Central domain RyR2 mutations are not well understood...
October 12, 2016: Journal of Biological Chemistry
Ferdouse Begum, Reshmi Chowdhury, Vivian Cheung, Stephanie Sherman, Eleanor Feingold
Meiotic recombination is an essential step in gametogenesis and is one that also generates genetic diversity. Genome-wide association and molecular studies have identified genes that influence of human meiotic recombination. RNF212 is associated with total or average number of recombination events, and PRDM9 is associated with the locations of hotspots, or sequences where crossing over appears to cluster. In addition, a common inversion on chromosome 17 is strongly associated with recombination. Other genes have been identified by GWAS, but those results have not been replicated...
October 12, 2016: G3: Genes—Genomes—Genetics
Wanlong Li, Ghana S Challa, Huilan Zhu, Wenjie Wei
Chromosomal rearrangements (CRs) play important roles in karyotype diversity and speciation. While many CR breakpoints have been characterized at the sequence level in yeast, insects and primates, little is known about the structure of evolutionary CR breakpoints in plant genomes, which are much more dynamic in genome size and sequence organization. Here, we report identification of breakpoints of a translocation between chromosome arms 4L and 5L of Triticeae, which is fixed in several species including diploid wheat and rye, by comparative mapping and comparative analysis of the draft genome and chromosome survey sequences of the Triticeae species...
October 11, 2016: G3: Genes—Genomes—Genetics
Vilma Sandström, Pekka E Kauppi, Laura Scherer, Thomas Kastner
The agricultural products consumed in Finland are increasingly grown on foreign farms. We analyze the Finnish imports of food and feed crops from 1986 to 2011 by products and by their geographic origin drawing a link to environmental impacts. The share of foreign crops consumed in Finland nearly doubled in the study period. The imports increased especially with commodities that could also be produced domestically. While the production of food increasingly shifted abroad, also the exports from Finland increased...
October 8, 2016: Science of the Total Environment
Karline Soetaert, Christian Mohn, Anna Rengstorf, Anthony Grehan, Dick van Oevelen
Cold-water corals (CWCs) form large mounds on the seafloor that are hotspots of biodiversity in the deep sea, but it remains enigmatic how CWCs can thrive in this food-limited environment. Here, we infer from model simulations that the interaction between tidal currents and CWC-formed mounds induces downwelling events of surface water that brings organic matter to 600-m deep CWCs. This positive feedback between CWC growth on carbonate mounds and enhanced food supply is essential for their sustenance in the deep sea and represents an example of ecosystem engineering of unparalleled magnitude...
October 11, 2016: Scientific Reports
Xenia Freilich, José D Anadón, Jolanta Bukala, Ordaliza Calderon, Ronveer Chakraborty, Stéphane Boissinot
BACKGROUND: The Ethiopian highlands are a biodiversity hotspot, split by the Great Rift Valley into two distinct systems of plateaus and mountains. The Rift Valley is currently hot and dry and acts as a barrier to gene flow for highland-adapted species. It is however unlikely that the conditions in the Rift were inhospitable to highland species during the entire Pleistocene. To assess the significance of the Ethiopian Rift as a biogeographic barrier as well as the impact Pleistocene climatic changes have had on the evolution of Ethiopian organisms, we performed phylogeographic analyses and developed present and past niche models on seven anuran species with different elevational and ecological preferences...
October 10, 2016: BMC Evolutionary Biology
Simon L Girard, Cynthia V Bourassa, Louis-Philippe Lemieux Perreault, Marc-André Legault, Amina Barhdadi, Amirthagowri Ambalavanan, Mara Brendgen, Frank Vitaro, Anne Noreau, Ginette Dionne, Richard E Tremblay, Patrick A Dion, Michel Boivin, Marie-Pierre Dubé, Guy A Rouleau
De novo mutations (DNM) are an important source of rare variants and are increasingly being linked to the development of many diseases. Recently, the paternal age effect has been the focus of a number of studies that attempt to explain the observation that increasing paternal age increases the risk for a number of diseases. Using disease-free familial quartets we show that there is a strong positive correlation between paternal age and germline DNM in healthy subjects. We also observed that germline CNVs do not follow the same trend, suggesting a different mechanism...
2016: PloS One
Yunqing Ma, Jiayuan Zhang, Weijie Yin, Zhenchao Zhang, Yan Song, Xing Chang
A large number of genetic variants have been associated with human diseases. However, the lack of a genetic diversification approach has impeded our ability to interrogate functions of genetic variants in mammalian cells. Current screening methods can only be used to disrupt a gene or alter its expression. Here we report the fusion of activation-induced cytidine deaminase (AID) with nuclease-inactive clustered regularly interspaced short palindromic repeats (CRISPR)-associated protein 9 (dCas9) for efficient genetic diversification, which enabled high-throughput screening of functional variants...
October 10, 2016: Nature Methods
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