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https://www.readbyqxmd.com/read/29305532/lrrk2-g2019s-induces-anxiety-depression-like-behavior-prior-to-the-onset-of-motor-dysfunction-with-5-ht1a-receptor-upregulation-in-mice
#1
Juhee Lim, Yeojin Bang, Jong-Hyun Choi, Arum Han, Min-Soo Kwon, Kwang Hyeon Liu, Hyun Jin Choi
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common genetic cause of Parkinson's disease (PD). The neuropathology of LRRK2 mutation-related PD is indistinguishable from that of idiopathic PD, including increased dopaminergic neurodegeneration and Lewy bodies, but its subtle non-motor phenotypes have not been fully evaluated. In the present study, we examined anxiety/depression-like behaviors and accompanying neurochemical changes in differently aged transgenic (Tg) mice expressing human mutant LRRK2 G2019S...
January 5, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29302272/evolution-with-a-seed-bank-the-population-genetic-consequences-of-microbial-dormancy
#2
REVIEW
William R Shoemaker, Jay T Lennon
Dormancy is a bet-hedging strategy that allows organisms to persist through conditions that are suboptimal for growth and reproduction by entering a reversible state of reduced metabolic activity. Dormancy allows a population to maintain a reservoir of genetic and phenotypic diversity (i.e., a seed bank) that can contribute to the long-term survival of a population. This strategy can be potentially adaptive and has long been of interest to ecologists and evolutionary biologists. However, comparatively little is known about how dormancy influences the fundamental evolutionary forces of genetic drift, mutation, selection, recombination, and gene flow...
January 2018: Evolutionary Applications
https://www.readbyqxmd.com/read/29302025/aprdx1-mutant-allele-causes-a-mmachc-secondary-epimutation-in-cblc-patients
#3
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K Chung, Pierre-Emmanuel Morange, D Sean Froese, Matthias R Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S Rosenblatt
To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 metabolism that we name "epi-cblC". The subjects are compound heterozygotes for a genetic mutation and for a promoter epimutation, detected in blood, fibroblasts, and sperm, at the MMACHC locus; 5-azacytidine restores the expression of MMACHC in fibroblasts. MMACHC is flanked by CCDC163P and PRDX1, which are in the opposite orientation...
January 4, 2018: Nature Communications
https://www.readbyqxmd.com/read/29296828/gene-editing-rescue-of-a-novel-mpl-mutant-associated-with-congenital-amegakaryocytic-thrombocytopenia
#4
Cédric Cleyrat, Romain Girard, Eun H Choi, Éric Jeziorski, Thierry Lavabre-Bertrand, Sylvie Hermouet, Serge Carillo, Bridget S Wilson
Thrombopoietin (Tpo) and its receptor (Mpl) are the principal regulators of early and late thrombopoiesis and hematopoietic stem cell maintenance. Mutations in MPL can drastically impair its function and be a contributing factor in multiple hematologic malignancies, including congenital amegakaryocytic thrombocytopenia (CAMT). CAMT is characterized by severe thrombocytopenia at birth, which progresses to bone marrow failure and pancytopenia. Here we report unique familial cases of CAMT that presented with a previously unreported MPL mutation: T814C (W272R) in the background of the activating MPL G117T (K39N or Baltimore) mutation...
September 26, 2017: Blood Advances
https://www.readbyqxmd.com/read/29282805/when-structure-leads-to-sex-untangling-signals-in-population-genetic-data-sets
#5
Julian Catchen
A robust signal of population structure often provides the first glimpse into the evolutionary history of a species and its populations. In this issue of Molecular Ecology, new work from Louis Bernatchez's group (Benestan et al., ) starts with an investigation of apparent structure in two marine species and concludes with an identification of sex-linked genes, and in the process provides a model for robust analysis. Structure is the genetic signal left by natural selection as well as by neutral processes like migration and gene flow...
December 2017: Molecular Ecology
https://www.readbyqxmd.com/read/29281951/gene-fusions-in-thyroid-cancer
#6
Valentina D Yakushina, Larisa V Lerner, Alexander V Lavrov
Gene fusions are known in many cancers as driver or passenger mutations. They play an important role in both etiology and pathogenesis of cancer and are considered as potential diagnostic and prognostic markers and possible therapeutic targets. Spectrum and prevalence of gene fusions in thyroid cancer ranges from single cases up to 80% depending on specific type of cancer. During last three years massive parallel sequencing technologies revealed new fusions and allowed detailed characteristics of fusions in different types of thyroid cancer...
December 27, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29247121/lrx-proteins-play-a-crucial-role-in-pollen-grain-and-pollen-tube-cell-wall-development
#7
Tohnyui Ndinyanka Fabrice, Hannes Vogler, Christian Draeger, Gautam Munglani, Shibu Gupta, Aline Galatea Herger, J Paul Knox, Ueli Grossniklaus, Christoph Ringli
Leucine-rich repeat extensins (LRXs) are chimeric proteins containing an N-terminal leucine-rich repeat (LRR) and a C-terminal extensin domain. LRXs are involved in cell wall formation in vegetative tissues and required for plant growth. However, the nature of their role in these cellular processes remains to be elucidated. Here, we used a combination of molecular techniques, light microscopy, and transmission electron microscopy to characterize mutants of pollen-expressed LRXs in Arabidopsis thaliana. Mutations in multiple pollen-expressed lrx genes causes severe defects in pollen germination and pollen tube (PT) growth, resulting in a reduced seed set...
December 15, 2017: Plant Physiology
https://www.readbyqxmd.com/read/29246969/allele-specific-silencing-therapy-for-dynamin-2-related-dominant-centronuclear-myopathy
#8
Delphine Trochet, Bernard Prudhon, Maud Beuvin, Cécile Peccate, Stéphanie Lorain, Laura Julien, Sofia Benkhelifa-Ziyyat, Aymen Rabai, Kamel Mamchaoui, Arnaud Ferry, Jocelyn Laporte, Pascale Guicheney, Stéphane Vassilopoulos, Marc Bitoun
Rapid advances in allele-specific silencing by RNA interference established a strategy of choice to cure dominant inherited diseases by targeting mutant alleles. We used this strategy for autosomal-dominant centronuclear myopathy (CNM), a rare neuromuscular disorder without available treatment due to heterozygous mutations in the DNM2 gene encoding Dynamin 2. Allele-specific siRNA sequences were developed in order to specifically knock down the human and murine DNM2-mRNA harbouring the p.R465W mutation without affecting the wild-type allele...
December 15, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29243050/a-single-point-mutation-in-precursor-protein-vi-doubles-the-mechanical-strength-of-human-adenovirus
#9
Mariska G M van Rosmalen, Glen R Nemerow, Gijs J L Wuite, Wouter H Roos
Viruses are extensively studied as vectors for vaccine applications and gene therapies. For these applications, understanding the material properties of viruses is crucial for creating optimal functionality. Using atomic force microscopy (AFM) nanoindentation, we studied the mechanical properties of human adenovirus type 5 with the fiber of type 35 (Ad5F35) and compared it to viral capsids with a single point mutation in the protein VI precursor protein (pVI-S28C). Surprisingly, the pVI-S28C mutant turned out to be twice as stiff as the Ad5F35 capsids...
December 15, 2017: Journal of Biological Physics
https://www.readbyqxmd.com/read/29242289/mild-telomere-dysfunction-as-a-force-for-altering-the-adaptive-potential-of-subtelomeric-genes
#10
Jennifer M O Mason, Michael J McEachern
Subtelomeric regions have several unusual characteristics including complex repetitive structures, increased rates of evolution, and enrichment for genes involved in niche adaptation. The adaptive telomere failure hypothesis suggests that certain environmental stresses can induce a low level of telomere failure, potentially leading to elevated subtelomeric recombination that could result in adaptive mutational changes within subtelomeric genes. Here, we tested a key prediction of the adaptive telomere failure hypothesis; that telomere dysfunction mild enough to have little or no overall effect on cell fitness could still lead to substantial increases in the mutation rates of subtelomeric genes...
December 14, 2017: Genetics
https://www.readbyqxmd.com/read/29235471/ctcf-driven-terra-transcription-facilitates-completion-of-telomere-dna-replication
#11
Kate Beishline, Olga Vladimirova, Stephen Tutton, Zhuo Wang, Zhong Deng, Paul M Lieberman
Telomere repeat DNA forms a nucleo-protein structure that can obstruct chromosomal DNA replication, especially under conditions of replication stress. Transcription of telomere repeats can initiate at subtelomeric CTCF-binding sites to generate telomere repeat-encoding RNA (TERRA), but the role of transcription, CTCF, and TERRA in telomere replication is not known. Here, we have used CRISPR/Cas9 gene editing to mutate CTCF-binding sites at the putative start site of TERRA transcripts for a class of subtelomeres...
December 13, 2017: Nature Communications
https://www.readbyqxmd.com/read/29230398/insulin-signaling-deficiency-produces-immobility-in-caenorhabditis-elegans-that-models-diminished-motivation-states-in-man-and-responds-to-antidepressants
#12
Julie Dagenhardt, Angeline Trinh, Halen Sumner, Jeffrey Scott, Eric Aamodt, Donard S Dwyer
Defects in insulin signaling have been reported in schizophrenia and major depressive disorder, which also share certain negative symptoms such as avolition, anhedonia, and apathy. These symptoms reflect diminished motivational states, which have been modeled in rodents as increased immobility in the forced swimming test. We have discovered that loss-of-function mutations in the insulin receptor (daf-2) and syntaxin (unc-64) genes in Caenorhabditis elegans, brief food deprivation, and exposure to DMSO produce immobility and avolition in non-dauer adults...
November 2017: Molecular Neuropsychiatry
https://www.readbyqxmd.com/read/29229679/epigenetic-and-posttranscriptional-regulation-of-cd16-expression-during-human-nk-cell-development
#13
Aaron R Victor, Christoph Weigel, Steven D Scoville, Wing Keung Chan, Kelsey Chatman, Mary M Nemer, Charlene Mao, Karen A Young, Jianying Zhang, Jianhua Yu, Aharon G Freud, Christopher C Oakes, Michael A Caligiuri
The surface receptor FcγRIIIA (CD16a) is encoded by the FCGR3A gene and is acquired by human NK cells during maturation. NK cells bind the Fc portion of IgG via CD16a and execute Ab-dependent cell-mediated cytotoxicity, which is critical for the effectiveness of several antitumor mAb therapies. The role of epigenetic regulatory mechanisms controlling transcriptional and posttranscriptional CD16 expression in NK cells is unknown. In this study, we compared specific patterns of DNA methylation and expression of FCGR3A with FCGR3B, which differ in cell type-specific expression despite displaying nearly identical genomic sequences...
December 11, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29213343/exome-sequencing-characterizes-the-somatic-mutation-spectrum-of-early-serrated-lesions-in-a-patient-with-serrated-polyposis-syndrome-sps
#14
Sukanya Horpaopan, Jutta Kirfel, Sophia Peters, Michael Kloth, Robert Hüneburg, Janine Altmüller, Dmitriy Drichel, Margarete Odenthal, Glen Kristiansen, Christian Strassburg, Jacob Nattermann, Per Hoffmann, Peter Nürnberg, Reinhard Büttner, Holger Thiele, Philip Kahl, Isabel Spier, Stefan Aretz
Background: Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-CRC sequence (serrated pathway) of CRC formation has been postulated, however, to date only few molecular signatures of serrated neoplasia (BRAF, KRAS, RNF43 mutations, CpG Island Methylation, MSI) have been described in a subset of SPS patients and neither the etiology of the syndrome nor the distinct genetic alterations during tumorigenesis have been identified...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29212169/ccctc-binding-factor-inhibits-breast-cancer-cell-proliferation-and-metastasis-via-inactivation-of-the-nuclear-factor-kappab-pathway
#15
Jie Wu, Peng-Chang Li, Jun-Yi Pang, Guo-You Liu, Xue-Min Xie, Jia-Yao Li, Yi-Cong Yin, Jian-Hua Han, Xiu-Zhi Guo, Ling Qiu
CCCTC-binding factor (CTCF) is an important epigenetic regulator implicated in multiple cellular processes, including growth, proliferation, differentiation, and apoptosis. Although CTCF deletion or mutation has been associated with human breast cancer, the role of CTCF in breast cancer is questionable. We investigated the biological functions of CTCF in breast cancer and the underlying mechanism. The results showed that CTCF expression in human breast cancer cells and tissues was significantly lower than that in normal breast cells and tissues...
November 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/29212003/soce-is-important-for-maintaining-sarcoplasmic-calcium-content-and-release-in-skeletal-muscle-fibers
#16
Mónika Sztretye, Nikolett Geyer, János Vincze, Dána Al-Gaadi, Tamás Oláh, Péter Szentesi, Gréta Kis, Miklós Antal, Ildikó Balatoni, László Csernoch, Beatrix Dienes
Store-operated Ca2+ entry (SOCE) is a Ca2+-entry process activated by the depletion of intracellular stores and has an important role in many cell types. In skeletal muscle, however, its role during physiological muscle activation has been controversial. To address this question, sarcoplasmic reticulum (SR) calcium release in a mouse strain with a naturally occurring mutation in the myostatin gene (Compact (Cmpt)) leading to a hypermuscular yet reduced muscle-force phenotype was compared to that in wild-type mice...
December 5, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/29210214/atp-is-a-driving-force-in-the-repair-of-photosystem-ii-during-photoinhibition
#17
REVIEW
Norio Murata, Yoshitaka Nishiyama
Repair of photosystem II (PSII) during photoinhibition involves replacement of photodamaged D1 protein by newly synthesized D1 protein. In this review, we summarize evidence for the indispensability of ATP in the degradation and synthesis of D1 during the repair of PSII. Synthesis of one molecule of the D1 protein consumes more than 1,300 molecules of ATP equivalents. The degradation of photodamaged D1 by FtsH protease also consumes approximately 240 molecules of ATP. In addition, ATP is required for several other aspects of the repair of PSII, such as transcription of psbA genes...
December 5, 2017: Plant, Cell & Environment
https://www.readbyqxmd.com/read/29209894/mitochondrial-energy-metabolism-and-signalling-in-human-glioblastoma-cell-lines-with-different-pten-gene-status
#18
Marina Comelli, Ivan Pretis, Alessia Buso, Irene Mavelli
Glioblastomas epidemiology and aggressiveness demand for a well characterization of biochemical mechanisms of the cells. The discovery of oxidative tumours related to chemoresistance is changing the prevalent view of dysfunctional mitochondria in cancer cells. Thus, glioblastomas metabolism is now an area of intense research, wherein was documented a high heterogeneity in energy metabolism and in particular in mitochondrial OxPhos. We report results gained by investigating mitochondrial OxPhos and bioenergetics, in a model of three human glioblastoma cell lines characterized by a different PTEN gene status...
December 6, 2017: Journal of Bioenergetics and Biomembranes
https://www.readbyqxmd.com/read/29206199/a-novel-receptor-tyrosine-kinase-switch-promotes-gastrointestinal-stromal-tumor-drug-resistance
#19
Sergei Boichuk, Aigul Galembikova, Pavel Dunaev, Elena Valeeva, Elena Shagimardanova, Oleg Gusev, Svetlana Khaiboullina
The fact that most gastrointestinal stromal tumors (GISTs) acquire resistance to imatinib (IM)-based targeted therapy remains the main driving force to identify novel molecular targets that are capable to increase GISTs sensitivity to the current therapeutic regimens. Secondary resistance to IM in GISTs typically occurs due to several mechanisms that include hemi- or homo-zygous deletion of the wild-type KIT allele, overexpression of focal adhesion kinase (FAK) and insulin-like growth factor receptor I (IGF-1R) amplification, BRAF mutation, a RTK switch (loss of c-KIT and gain of c-MET/AXL), etc...
December 5, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29204154/mitochondria-a-common-target-for-genetic-mutations-and-environmental-toxicants-in-parkinson-s-disease
#20
REVIEW
Martin P Helley, Jennifer Pinnell, Carolina Sportelli, Kim Tieu
Parkinson's disease (PD) is a devastating neurological movement disorder. Since its first discovery 200 years ago, genetic and environmental factors have been identified to play a role in PD development and progression. Although genetic studies have been the predominant driving force in PD research over the last few decades, currently only a small fraction of PD cases can be directly linked to monogenic mutations. The remaining cases have been attributed to other risk associated genes, environmental exposures and gene-environment interactions, making PD a multifactorial disorder with a complex etiology...
2017: Frontiers in Genetics
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