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Stefanos Siozios, Michael Gerth, Joanne S Griffin, Gregory D D Hurst
The inherited bacterium Wolbachia is an important component of the biology of many arthropods. What makes it so common? An analysis of drosophilids revealed one strain host shifts at a surprisingly high rate, infecting eight species in under 30,000 years.
March 19, 2018: Current Biology: CB
Xiaofen Zhang, Guoyun Wang, Bin Chen, Heshan Du, Fenglan Zhang, Haiying Zhang, Qian Wang, Sansheng Geng
First flower node (FFN) is an important trait for evaluating fruit earliness in pepper (Capsicum annuum L.), but the genetic mechanisms that control FFN are still poorly understood. In the present study, we developed 249 F2 plants derived from an intraspecific cross between the inbred pepper lines Z4 and Z5. Thirty plants with the highest FFN and 30 plants with the lowest FFN were chosen and their DNAs were pooled according to phenotype to construct two bulked DNA pools. Specific-locus amplified fragment sequencing (SLAF-seq) was combined with bulked segregant analysis (BSA) to identify candidate regions related to FFN...
2018: PloS One
Ozlem Kurnaz-Gomleksiz, Ozlem Kucukhuseyin, Elif Ozkok, Zehra Bugra, Oguz Ozturk, Hulya Yilmaz-Aydogan
BACKGROUND: The OLR1 gene has been identified as a candidate gene for coronary artery disease (CAD). Six single-nucleotide polymorphisms (SNPs) of the OLR1 gene located within intron 4 (IVS4-27G>C, IVS4-73C>T, IVS4-14A>G), intron 5 (IVS5-70A>G, IVS5-27G>T) and 3'UTR (188C>T) comprise a linkage disequilibrium (LD) block, which is strongly associated with the elevated risk of CAD. OBJECTIVES: We aimed to investigate the effects of the OLR1 IVS4-14A>G and -73C>T SNPs on metabolic parameters in Turkish CAD patients, and the linkage between these 2 genetic variants...
March 20, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Marcin Kubik, Alicja Dąbrowska-Kugacka, Ewa Lewicka, Ludmiła Daniłowicz-Szymanowicz, Grzegorz Raczak
Left ventricular noncompaction (LVNC) is a unique inherited cardiomyopathy, characterized by an increased risk of adverse cardiovascular events such as heart failure, arrhythmia or sudden cardiac death. Although in comparison to dilated cardiomyopathy, the number of clinical studies concerning LVNC is still small, it is quickly increasing, which reflects a huge effort of the cardiovascular society to develop data to improve understanding of this cardiomyopathy. However, the predictors of adverse outcomes in LVNC are not well established...
March 16, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Victoria Huckstadt, María E Heis Mendoza, Angélica Moresco, María G Obregon
Pai syndrome is a very rare congenital disorder characterized by medial cleft lip, nasal and facial cutaneous polyps, and pericallosal lipoma. Broad phenotypic variability exists in this condition. Neurodevelopment is usually normal. Up to date 42 cases have been reported in the literature. Different types of inheritance have been proposed, but most cases are sporadic. No gene has been identified. We report two cases with Pai syndrome, one of them with novel clinical findings as vertebral segmentation defects and choroidal osteoma...
April 1, 2018: Archivos Argentinos de Pediatría
Erdem Kucukal, Jane A Little, Umut A Gurkan
Non-adherence and deformability are the key intrinsic biomechanical features of the red blood cell (RBC), which allow it to tightly squeeze and pass through even the narrowest of microcirculatory networks. Blockage of microcirculatory flow, also known as vaso-occlusion, is a consequence of abnormal cellular adhesion to the vascular endothelium. In sickle cell disease (SCD), an inherited anaemia, even though RBCs have been shown to be heterogeneous in adhesiveness and deformability, this has not been studied in the context of physiologically relevant dynamic shear gradients at the microscale...
March 20, 2018: Integrative Biology: Quantitative Biosciences From Nano to Macro
Samuel James Alexander Dobson, Kanna Mannadiar Jayaprakasan
We conducted a retrospective review into the role of commonly prescribed conventional adjuvant treatments in improving live birth rates after recurrent miscarriage (RM). Data from 301 couples attending the RM clinic in two Tertiary teaching hospitals were analysed with their live birth rate following a further pregnancy and a prevalence of conditions investigated in RM being the main outcomes measured. We found that 26% of women had explained RM and 74% had unexplained RM. Adjuvant versus conservative management did not improve the live birth rates in those with unexplained RM (68...
March 20, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Sinem Civriz Bozdağ, Meltem Kurt Yüksel, Taner Demirer
Stem cells can be either totipotent, pluripotent, multipotent or unipotent. Totipotent cells have the capability to produce all cell types of the developing organism, including both embryonic and extraembryonic tissues. The Hematopoietic Stem Cells (HSC) are the first defined adult stem cells (ASC) that give rise to all blood cells and immune system. Use of HSCs for treatment of hematologic malignancies, which is also called bone marrow (BM) transplantation or peripheral blood stem cells (PBSC) transplantation is the pioneer of cellular therapy and translational research...
March 20, 2018: Advances in Experimental Medicine and Biology
Apuã C M Paquola, Huma Asif, Carlos Alberto de Bragança Pereira, Bruno César Feltes, Diego Bonatto, Wanessa Cristina Lima, Carlos Frederico Martins Menck
Horizontal gene transfer (HGT) has a major impact on the evolution of prokaryotic genomes, as it allows genes evolved in different contexts to be combined in a single genome, greatly enhancing the ways evolving organisms can explore the gene content space and adapt to the environment. A systematic analysis of HGT in a large number of genomes is of key importance in understanding the impact of HGT in the evolution of prokaryotes. We developed a method for the detection of genes that potentially originated by HGT based on the comparison of BLAST scores between homologous genes to 16S rRNA-based phylogenetic distances between the involved organisms...
March 19, 2018: Journal of Molecular Evolution
Gabrielle Bradshaw, Robbie R Lualhati, Cassie L Albury, Neven Maksemous, Deidre Roos-Araujo, Robert A Smith, Miles C Benton, David A Eccles, Rod A Lea, Heidi G Sutherland, Larisa M Haupt, Lyn R Griffiths
Background: We investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood. Aim: To identify causative functional genetic variants related to an undiagnosed primary immunodeficiency. Method: Whole genome microarray copy number variant (CNV) analysis was performed on the proband followed by whole exome sequencing (WES) and trio analysis of the proband and family members...
2018: Frontiers in Immunology
J Montag, B Petersen, A K Flögel, E Becker, A Lucas-Hahn, G J Cost, C Mühlfeld, T Kraft, H Niemann, B Brenner
Familial Hypertrophic Cardiomyopathy (HCM) is the most common inherited cardiac disease. About 30% of the patients are heterozygous for mutations in the MYH7 gene encoding the ß-myosin heavy chain (MyHC). Hallmarks of HCM are cardiomyocyte disarray and hypertrophy of the left ventricle, the symptoms range from slight arrhythmias to sudden cardiac death or heart failure. To gain insight into the underlying mechanisms of the diseases' etiology we aimed to generate genome edited pigs with an HCM-mutation. We used TALEN-mediated genome editing and successfully introduced the HCM-point mutation R723G into the MYH7 gene of porcine fibroblasts and subsequently cloned pigs that were heterozygous for the HCM-mutation R723G...
March 19, 2018: Scientific Reports
Daniel L McCartney, Rosie M Walker, Stewart W Morris, Susan M Anderson, Barbara J Duff, Riccardo E Marioni, J Kirsty Millar, Shane E McCarthy, Niamh M Ryan, Stephen M Lawrie, Andrew R Watson, Douglas H R Blackwood, Pippa A Thomson, Andrew M McIntosh, W Richard McCombie, David J Porteous, Kathryn L Evans
Recent work has highlighted a possible role for altered epigenetic modifications, including differential DNA methylation, in susceptibility to psychiatric illness. Here, we investigate blood-based DNA methylation in a large family where a balanced translocation between chromosomes 1 and 11 shows genome-wide significant linkage to psychiatric illness. Genome-wide DNA methylation was profiled in whole-blood-derived DNA from 41 individuals using the Infinium HumanMethylation450 BeadChip (Illumina Inc., San Diego, CA)...
March 19, 2018: NPJ Schizophrenia
Daniel Mattle, Bernd Kuhn, Johannes Aebi, Marc Bedoucha, Demet Kekilli, Nathalie Grozinger, Andre Alker, Markus G Rudolph, Georg Schmid, Gebhard F X Schertler, Michael Hennig, Jörg Standfuss, Roger J P Dawson
In the degenerative eye disease retinitis pigmentosa (RP), protein misfolding leads to fatal consequences for cell metabolism and rod and cone cell survival. To stop disease progression, a therapeutic approach focuses on stabilizing inherited protein mutants of the G protein-coupled receptor (GPCR) rhodopsin using pharmacological chaperones (PC) that improve receptor folding and trafficking. In this study, we discovered stabilizing nonretinal small molecules by virtual and thermofluor screening and determined the crystal structure of pharmacologically stabilized opsin at 2...
March 19, 2018: Proceedings of the National Academy of Sciences of the United States of America
Stéphanie Philtjens, Sara Van Mossevelde, Julie van der Zee, Eline Wauters, Lubina Dillen, Mathieu Vandenbulcke, Rik Vandenberghe, Adrian Ivanoiu, Anne Sieben, Christiana Willems, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Barbara Borroni, Alessandro Padovani, Pau Pastor, Monica Diez-Fairen, Miquel Aguilar, Alexandre de Mendonça, Gabriel Miltenberger-Miltényi, Isabel Hernández, Merce Boada, Agustín Ruiz, Benedetta Nacmias, Sandro Sorbi, Maria Rosário Almeida, Isabel Santana, Jordi Clarimón, Alberto Lleó, Giovanni B Frisoni, Raquel Sanchez-Valle, Albert Lladó, Estrella Gómez-Tortosa, Ellen Gelpi, Marleen Van den Broeck, Karin Peeters, Patrick Cras, Peter P De Deyn, Sebastiaan Engelborghs, Marc Cruts, Christine Van Broeckhoven
We investigated the genetic role of sortilin (SORT1) in frontotemporal dementia (FTD). SORT1 is the neuronal receptor for granulin, encoded by the progranulin gene (GRN), a major causal gene for inherited FTD. In Belgian cohorts of 636 FTD patients and 1066 unaffected control individuals, we identified 5 patient-only nonsynonymous rare variants in SORT1. Rare variant burden analysis showed a significant increase in rare coding variants in patients compared to control individuals (p = 0.04), particularly in the β-propeller domain (p = 0...
February 17, 2018: Neurobiology of Aging
V Moalic-Allain
Hematopoietic stem cell transplantation is a common procedure potentially beneficial to many individuals with cancer, hematological, or inherited disorders, and has highlighted the need of related or unrelated donors to perform allograft. Donation of hematopoietic stem cells, either through bone marrow harvest or peripheral blood stem cell collection, is well-established and widespread. Over the past two decades, the peripheral blood stem cell collection by aphaeresis has become the main source of hematopoietic stem cells for transplantation, due to faster engraftment and practicability and lower risk of relapse for high-risk patients...
March 16, 2018: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
Jerome Gnanaraj, Aric Parnes, Charles W Francis, Ronald S Go, Clifford M Takemoto, Shahrukh K Hashmi
Pancytopenia is a relatively common phenomenon encountered in clinical practice. The evaluation of a patient with pancytopenia requires a comprehensive approach and identifying the underlying cause can be challenging given the wide range of etiologies including drugs, autoimmune conditions, malignancies, infections, hemophagocytosis, and inheritable conditions. Recent advances in molecular hematology which include genomic profiling and next-generation sequencing have helped gain major insights into various hematological conditions and can guide diagnosing specific diseases in a shorter time at lower costs...
March 5, 2018: Blood Reviews
Sarah F Pollack, Olivia R Grocott, Kimberly A Parkin, Anna M Larson, Ronald L Thibert
Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Myoclonic seizures are often the first seizure type to appear, and myoclonic status, associated with developmental regression, may occur in the first few years of life. Additionally, there have been rare reports of prolonged episodes of myoclonus without electrographic correlate in adults with AS...
March 16, 2018: Epilepsy & Behavior: E&B
Saber Imani, Iqra Ijaz, Marzieh Dehghan Shasaltaneh, Shangyi Fu, Jingliang Cheng, Junjiang Fu
Choroideremia (CHM) is a rare form of X-linked chorioretinal dystrophy that is caused by mutations in the CHM gene. Mutations in the Rab escort protein-1 (REP-1), an ubiquitously encoded protein of the CHM gene, lead to prenylation and vesicle trafficking deficiency in the protein, resulting in the progressive degeneration of choriocapillaris, retinal pigment epithelium (RPE), and photoreceptors. Despite previous studies concerning this disease, no effective diagnostic tests or established therapeutic interventions currently exist for CHM...
January 2018: Mutation Research
Aparna Prasad, Matthew A Sdano, Rena J Vanzo, Patricia A Mowery-Rushton, Moises A Serrano, Charles H Hensel, E Robert Wassman
BACKGROUND: Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous regions within the genome, which represent potential risk for recessively inherited disorders. METHODS: To determine the frequency in which pathogenic or likely pathogenic variants can be detected in these regions of homozygosity, we performed whole exome sequencing (WES) in 53 individuals where homozygosity was detected by CMA...
March 20, 2018: BMC Medical Genetics
Eva Pampouille, Cécile Berri, Simon Boitard, Christelle Hennequet-Antier, Stéphane A Beauclercq, Estelle Godet, Christophe Praud, Yves Jégo, Elisabeth Le Bihan-Duval
BACKGROUND: White striping (WS) is an emerging muscular defect occurring on breast and thigh muscles of broiler chickens. It is characterized by the presence of white striations parallel to the muscle fibers and has significant consequences for meat quality. The etiology of WS remains poorly understood, even if previous studies demonstrated that the defect prevalence is related to broiler growth and muscle development. Moreover, recent studies showed moderate to high heritability values of WS, which emphasized the role of genetics in the expression of the muscle defect...
March 20, 2018: BMC Genomics
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