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conservation genetics

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https://www.readbyqxmd.com/read/29161615/more-than-a-tad-spatiotemporal-control-of-caulobacter-pili
#1
REVIEW
Johann Mignolet, Gaël Panis, Patrick H Viollier
The Type IV pilus (T4P) is a powerful and sophisticated bacterial nanomachine involved in numerous cellular processes, including adhesion, DNA uptake and motility. Aside from the well-described subtype T4aP of the Gram-negative genera, including Myxococcus, Pseudomonas and Neisseria, the Tad (tight adherence) pilus secretion system re-shuffles homologous parts from other secretion systems along with uncharacterized components into a new type of protein translocation apparatus. A representative of the Tad apparatus, the Caulobacter crescentus pilus assembly (Cpa) machine is built exclusively at the newborn cell pole once per cell cycle...
November 18, 2017: Current Opinion in Microbiology
https://www.readbyqxmd.com/read/29161494/species-of-sand-flies-diptera-psychodidae-collected-from-natural-reserves-in-the-pacific-and-darien-regions-of-colombia
#2
Rafael J Vivero, María Angélica Contreras, Juan D Suaza, Iván D Vélez, Charles Porter, Sandra Uribe
INTRODUCTION: The departments of Chocó and Antioquia in Colombia show climatic and vegetation conditions favoring the establishment of vector species of the genus Lutzomyia and the transmission of Leishmania spp. to human populations entering conserved forest environments. OBJECTIVE: To report the species of Phlebotomine sandflies present in three natural reserves in the Darien and Pacific regions of Colombia. MATERIALS AND METHODS: Sand flies were collected specifically in the natural reserves El Aguacate (Acandí, Chocó), Nabugá (Bahía Solano, Chocó) and Tulenapa (Carepa, Antioquia)...
March 29, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/29161034/dynamic-glycosylation-governs-the-vertebrate-copii-protein-trafficking-pathway
#3
Nathan J Cox, Gokhan Unlu, Brittany J Bisnett, Thomas R Meister, Brett Condon, Peter M Luo, Tim J Smith, Michael Hanna, Abhishek Chhetri, Erik J Soderblom, Anjon Audhya, Ela W Knapik, Michael Boyce
The COPII coat complex, which mediates secretory cargo trafficking from the endoplasmic reticulum, is a key control point for subcellular protein targeting. Because misdirected proteins cannot function, protein sorting by COPII is critical for establishing and maintaining normal cell and tissue homeostasis. Indeed, mutations in COPII genes cause a range of human pathologies, including cranio-lenticulo-sutural dysplasia (CLSD), which is characterized by collagen trafficking defects, craniofacial abnormalities and skeletal dysmorphology...
November 21, 2017: Biochemistry
https://www.readbyqxmd.com/read/29159890/whole-exome-sequencing-reveals-a-mutation-in-armc9-as-a-cause-of-mental-retardation-ptosis-and-polydactyly
#4
Anjana Kar, Shubha R Phadke, Aneek Das Bhowmik, Ashwin Dalal
Intellectual disability (ID) refers to deficits in mental abilities, social behavior, and motor skills to perform activities of daily living as compared to peers. Numerous genetic and environmental factors may be responsible for ID. We report on elucidation of molecular basis for syndromic ID associated with ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing. The analysis revealed a novel synonymous variation p.T293T (c.879G>A) which leads to a splicing defect in ARMC9 gene...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159707/propionyl-coa-carboxylase-pcca-1-and-pccb-1-gene-deletions-in-caenorhabditis-elegans-globally-impair-mitochondrial-energy-metabolism
#5
Kimberly A Chapman, Julian Ostrovsky, Meera Rao, Stephen D Dingley, Erzsebet Polyak, Marc Yudkoff, Rui Xiao, Michael J Bennett, Marni J Falk
Propionic acidemia (PA) is a classical inborn error of metabolism with high morbidity that results from the inability of the propionyl-CoA carboxylase (PCC) enzyme to convert propionyl-CoA to methylmalonyl-CoA. PA is inherited in an autosomal recessive fashion due to functional loss of both alleles of either PCCA or PCCB. These genes are highly conserved across evolutionarily diverse species and share extensive similarity with pcca-1 and pccb-1 in the nematode, Caenorhabditis elegans. Here, we report the global metabolic effects of deletion in a single PCC gene, either pcca-1 or pccb-1, in C...
November 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29159460/compound-heterozygous-inheritance-of-mutations-in-coenzyme-q8a-results-in-autosomal-recessive-cerebellar-ataxia-and-coenzyme-q10-deficiency-in-a-female-sib-pair
#6
Jessie C Jacobsen, Whitney Whitford, Brendan Swan, Juliet Taylor, Donald R Love, Rosamund Hill, Sarah Molyneux, Peter M George, Richard Mackay, Stephen P Robertson, Russell G Snell, Klaus Lehnert
Autosomal recessive ataxias are characterised by a fundamental loss in coordination of gait with associated atrophy of the cerebellum. There is significant clinical and genetic heterogeneity amongst inherited ataxias; however, an early molecular diagnosis is essential with low-risk treatments available for some of these conditions. We describe two female siblings who presented early in life with unsteady gait and cerebellar atrophy. Whole exome sequencing revealed compound heterozygous inheritance of two pathogenic mutations (p...
November 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29159447/transcriptome-sequencing-of-the-long-nosed-bandicoot-perameles-nasuta-reveals-conservation-and-innovation-of-immune-genes-in-the-marsupial-order-peramelemorphia
#7
Katrina M Morris, Haylee J Weaver, Denis O'Meally, Marion Desclozeaux, Amber Gillett, Adam Polkinghorne
Bandicoots are omnivorous marsupials of the order Peramelemorphia. Conservation concerns and their unique biological characteristics suggest peramelomorphs are worthy research subjects, but knowledge of their genetics and immunology has lagged behind that of other high-profile marsupials. Here, we characterise the transcriptome of the long-nose bandicoot (Perameles nasuta), the first high-throughput data set from any peramelomorph. We investigate the immune gene repertoire of the bandicoot, with a focus on key immune gene families, and compare to previously characterised marsupial and mammalian species...
November 20, 2017: Immunogenetics
https://www.readbyqxmd.com/read/29159175/multilocus-sequencing-of-corynebacterium-pseudotuberculosis-biotype-ovis-strains
#8
Boglárka Sellyei, Krisztián Bányai, Dániel Bartha, István Hajtós, László Fodor, László Makrai
Thirteen Corynebacterium pseudotuberculosis biotype ovis strains isolated from clinical cases of caseous lymphadenitis in Hungary were characterised using multilocus sequencing and their phylogenetic comparison was carried out on the basis of four housekeeping genes (groEL1, infB, dnaK, and leuA). The in silico analysis of the 16 frequently studied housekeeping genes showed that C. pseudotuberculosis strains could be readily distinguished from C. diphtheriae and C. ulcerans strains; however, sequences of the same genes in the two biotypes of the C...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29158638/genetic-characterization-of-chayote-sechium-edule-jacq-swartz-landraces-of-north-eastern-hills-of-india-and-conservation-measure
#9
Veerendra Kumar Verma, Avinash Pandey, Anjani Kumar Jha, S V Ngachan
Chayote or chow-chow is an underutilized cucurbit vegetable crop, widely cultivated by farmers in the backyards and Jhum lands for its tender leaves, fruits and tuberous root. In order to initiate crop improvement program in this crop, the present study was undertaken to assess the genetic variations in the 74 chow-chow landraces collected from the North Eastern Hill region of India. Wide variations for fruit colors, fruit length (6.5-21.5 cm), fruit width (4.2-10.7 cm), fruit weight (60-560 g), vitamin-C (2...
October 2017: Physiology and Molecular Biology of Plants: An International Journal of Functional Plant Biology
https://www.readbyqxmd.com/read/29158259/structural-analyses-of-key-features-in-the-kank1-kif21a-complex-yield-mechanistic-insights-into-the-crosstalk-between-microtubules-and-the-cell-cortex
#10
Zhuangfeng Weng, Yuan Shang, Deqiang Yao, Jinwei Zhu, Rongguang Zhang
The crosstalk between dynamic microtubules (MTs) and the cell cortex plays important roles in cell division, polarity, and migration. A critical adaptor that links the plus ends of MTs with the cell cortex is the KN motif and ankyrin repeat domains 1 (KANK1)/kinesin family member 21A (KIF21A) complex. Genetic defects in these two proteins are associated with various cancers and developmental diseases such as congenital fibrosis of the extraocular muscles type 1 (CFEOM1). However, the molecular mechanism governing the KANK1/KIF21A interaction and the role of the conserved ankyrin (ANK) repeats in this interaction are still unclear...
November 20, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29157305/evaluation-of-the-effect-of-a-floxed-neo-cassette-within-the-dystroglycan-dag1-gene
#11
Francesca Sciandra, Bianca Maria Scicchitano, Giulia Signorino, Maria Giulia Bigotti, Barbara Tavazzi, Francesca Lombardi, Manuela Bozzi, Gigliola Sica, Bruno Giardina, Sandra Blaess, Andrea Brancaccio
OBJECTIVE: Dystroglycan (DG) is an adhesion complex formed by two subunits, α-DG and β-DG. In skeletal muscle, DG is part of the dystrophin-glycoprotein complex that is crucial for sarcolemma stability and it is involved in a plethora of muscular dystrophy phenotypes. Due to the important role played by DG in skeletal muscle stability as well as in a wide variety of other tissues including brain and the peripheral nervous system, it is essential to investigate its genetic assembly and transcriptional regulation...
November 21, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29157304/a-novel-vector-for-transgenesis-in-the-rat-cns
#12
T Peter Lopez, Kurt Giles, Brittany N Dugger, Abby Oehler, Carlo Condello, Zuzana Krejciova, Julian A Castaneda, George A Carlson, Stanley B Prusiner
The larger brain of the rat enables a much greater repertoire of complex behaviors than mice, likely making rats preferential for investigating neurodegeneration. Because molecular tools for specific expression of transgenes in the rat brain are sparse, we chose Prnp encoding the prion protein (PrP) to develop a novel vector to drive transgene expression in the rat brain. We compared the rat Prnp sequence with mouse and Syrian hamster Prnp sequences, identifying conserved genetic elements and hypothesizing that these elements would be able to drive neuronal transgene expression...
November 21, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29156585/pan-cellulosomics-of-mesophilic-clostridia-variations-on-a-theme
#13
Bareket Dassa, Ilya Borovok, Vincent Lombard, Bernard Henrissat, Raphael Lamed, Edward A Bayer, Sarah Moraïs
The bacterial cellulosome is an extracellular, multi-enzyme machinery, which efficiently depolymerizes plant biomass by degrading plant cell wall polysaccharides. Several cellulolytic bacteria have evolved various elaborate modular architectures of active cellulosomes. We present here a genome-wide analysis of a dozen mesophilic clostridia species, including both well-studied and yet-undescribed cellulosome-producing bacteria. We first report here, the presence of cellulosomal elements, thus expanding our knowledge regarding the prevalence of the cellulosomal paradigm in nature...
November 18, 2017: Microorganisms
https://www.readbyqxmd.com/read/29155328/mitochondrial-trna-leu-uur-c3275t-trna-gln-t4363c-and-trna-lys-a8343g-mutations-may-be-associated-with-pcos-and-metabolic-syndrome
#14
Yu Ding, Bo-Hou Xia, Cai-Juan Zhang, Guang-Chao Zhuo
Polycystic ovary syndrome (PCOS) is a very prevalent endocrine disease affecting reproductive women. Clinically, patients with this disorder are more vulnerable to develop type 2 diabetes mellitus (T2DM), cardiovascular events, as well as metabolic syndrome (MetS). To date, the molecular mechanism underlying PCOS remains largely unknown. Previously, we showed that mitochondrial dysfunction caused by mitochondrial DNA (mtDNA) mutation was an important cause for PCOS. In the current study, we described the clinical and biochemical features of a three-generation pedigree with maternally transmitted MetS, combined with PCOS...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29154929/identification-of-genetic-variants-of-brucella-spp-through-genome-wide-association-studies
#15
Jagadesan Sankarasubramanian, Udayakumar S Vishnu, Paramasamy Gunasekaran, Jeyaprakash Rajendhran
Brucellosis is an important zoonotic disease caused by Brucella spp. We present a phylogeny of 552 strains based on genome-wide single nucleotide polymorphisms (SNPs) determined by an alignment-free k-mer approach. A total of 138,029 SNPs were identified from 552 Brucella genomes. Of these, 31,152 and 106,877 were core and non-core SNPs, respectively. Based on pan-genome analysis 11,937 and 972 genes were identified as pan and core genome, respectively. The pan-genome-wide analysis studies (Pan-GWAS) could not identify the group-specific variants in Brucella spp...
November 15, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29154888/activation-of-yap1-taz-signaling-in-ischemic-heart-disease-and-dilated-cardiomyopathy
#16
Ning Hou, Ying Wen, Xun Yuan, Haodong Xu, Xuejun Wang, Faqian Li, Bo Ye
Genetic manipulation of key components of the evolutionally conserved Hippo pathway has shown that the precise control of these signaling molecules is critical to cardiac development and response to stresses. However, how this pathway is involved in the progression of cardiac dysfunction in different heart diseases remains unclear. We investigated the expressional levels and subcellular localization of Yap1, Taz, and Tead1 and determined Hippo target gene expression in failing human hearts with ischemic heart disease (IHD) and idiopathic dilated cardiomyopathy (IDC) and mouse desmin-related cardiomyopathy (DES)...
November 15, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/29154800/the-use-of-model-fish-as-tools-for-research-the-biological-mechanisms-of-cooperative-behaviour-a-future-for-translational-research-concerning-social-anxiety-disorders
#17
REVIEW
Marta C Soares, Sónia C Cardoso, Tamires Dos Santos Carvalho, Caio Maximino
Human societies demand of its composing members the development of a wide array of social tools and strategies. A notable example is human outstanding ability to cooperate with others, in all its complex forms, depicting the reality of a highly demanding social framework in which humans need to be integrated as to attain physical and mental benefits. Considering the importance of social engagement, it's not entirely unexpected that most psychiatric disorders involve some disruption of normal social behaviour, ranging from an abnormal absence to a significant increase of social functioning...
November 14, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29153834/precise-editing-at-dna-replication-forks-enables-multiplex-genome-engineering-in-eukaryotes
#18
Edward M Barbieri, Paul Muir, Benjamin O Akhuetie-Oni, Christopher M Yellman, Farren J Isaacs
We describe a multiplex genome engineering technology in Saccharomyces cerevisiae based on annealing synthetic oligonucleotides at the lagging strand of DNA replication. The mechanism is independent of Rad51-directed homologous recombination and avoids the creation of double-strand DNA breaks, enabling precise chromosome modifications at single base-pair resolution with an efficiency of >40%, without unintended mutagenic changes at the targeted genetic loci. We observed the simultaneous incorporation of up to 12 oligonucleotides with as many as 60 targeted mutations in one transformation...
November 15, 2017: Cell
https://www.readbyqxmd.com/read/29153400/deciphering-pathogenicity-of-fusarium-oxysporum-from-a-phylogenomics-perspective
#19
Yong Zhang, Li-Jun Ma
Fusarium oxysporum is a large species complex of both plant and human pathogens that attack a diverse array of species in a host-specific manner. Comparative genomic studies have revealed that the host-specific pathogenicity of the F. oxysporum species complex (FOSC) was determined by distinct sets of supernumerary (SP) chromosomes. In contrast to common vertical transfer, where genetic materials are transmitted via cell division, SP chromosomes can be transmitted horizontally between phylogenetic lineages, explaining the polyphyletic nature of the host-specific pathogenicity of the FOSC...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/29153398/maximizing-power-in-phylogenetics-and-phylogenomics-a-perspective-illuminated-by-fungal-big-data
#20
Alex Dornburg, Jeffrey P Townsend, Zheng Wang
Since its original inception over 150 years ago by Darwin, we have made tremendous progress toward the reconstruction of the Tree of Life. In particular, the transition from analyzing datasets comprised of small numbers of loci to those comprised of hundreds of loci, if not entire genomes, has aided in resolving some of the most vexing of evolutionary problems while giving us a new perspective on biodiversity. Correspondingly, phylogenetic trees have taken a central role in fields that span ecology, conservation, and medicine...
2017: Advances in Genetics
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