Search results for "genomic"

FUNCTIONAL GENOMIC APPROACHES TO ELUCIDATE BIOTIC AND ABIOTIC STRESS RESPONSES IN PLANTS

Applied genomics for tuberculosis diagnosis and surveillance

2020

La tuberculosis es una de las principales causas de muerte a nivel mundal. A lo largo de los ultimos años, la secuenciación de genoma comleto de Myobacterium tuberculosis, el agente infeccioso, se ha convertido en una herramienta extraordinaria en el estudio, diagnóstico y vigilancia epidemiológica de la enfermedad. Analizar el genoma completo de la bacteria permite la predicción precisa de resistencias a antibióticos, estudiar brotes con una resolución sin preecdentes, a la vez que permite estudiar la evolución y la diversidad genética del patógeno. Sin embargo el uso de la secuenciación genómica se ha visto dificultado por la dependencia de un proceso largo y costoso de cultivo microbiano…

Isolation and characterization of nuclear microsatellite loci in the northern shrimp, Pandalus borealis

2012

Published version of an article published in the journal: Conservation Genetics Resources. Also available from the publisher at: http://dx.doi.org/10.1007/s12686-011-9486-4 We developed and characterized 20 microsatellite primer loci for the northern shrimp Pandalus borealis. All 20 loci were polymorphic with number of alleles ranging from 3 to 36 and with observed heterozygosity between 0.04 and 0.93. In addition, we tested the utility of these markers in three related shrimp species, P. montagui, Atlantopandalus propinqvus and Dichelopandalus bonnieri. These new markers will prove useful in the identification of stock structure and hence, assessment of the commercially important species P…

Chromosomal imbalances and their target genes in gastrointestinal stromal tumors

2006

A genomic reappraisal of symbiotic function in the aphid/Buchnera symbiosis: reduced transporter sets and variable membrane organisations.

2011

International audience; Buchnera aphidicola is an obligate symbiotic bacterium that sustains the physiology of aphids by complementing their exclusive phloem sap diet. In this study, we reappraised the transport function of different Buchnera strains, from the aphids Acyrthosiphon pisum, Schizaphis graminum, Baizongia pistaciae and Cinara cedri, using the re-annotation of their transmembrane proteins coupled with an exploration of their metabolic networks. Although metabolic analyses revealed high interdependencies between the host and the bacteria, we demonstrate here that transport in Buchnera is assured by low transporter diversity, when compared to free-living bacteria, being mostly bas…

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital

2022

BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…

Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.

2015

International audience; Myotonic dystrophy type 1 (DM1) is caused by an unstable expanded CTG repeat located within the DMPK gene 3'UTR. The nature, severity and age at onset of DM1 symptoms are very variable in patients. Different forms of the disease are described, among which the congenital form (CDM) is the most severe. Molecular mechanisms of DM1 are well characterized for the adult form and involve accumulation of mutant DMPK RNA forming foci in the nucleus. These RNA foci sequester proteins from the MBNL family and deregulate CELF proteins. These proteins are involved in many cellular mechanisms such as alternative splicing, transcriptional, translational and post-translational regul…

Multiplex Ligation-dependent Probe Amplification (MLPA)

2011

The Multiplex Ligation-dependent Probe Amplification (MLPA) is a PCR-based method. The procedure relies on sequence-specific probe hybridization of genomic DNA, followed by multiplex-PCR amplification of the hybridized probe and a semiquantitative analysis of the resulting PCR products. MLPA allows the analysis of around 40 loci in the same reaction, and is a sensitive and relatively fast technique. Only a small amount of DNA is required and results are available within 2 days.The critical factors when performing MLPA analyses from formalin-fixed paraffin-embedded (FFPE) tissues are DNA integrity and purity; for this reason, a suitable DNA extraction method must be chosen.The MLPA protocol …

Bivalve genomics used for characterization of the immune defense against microbial infections in mussel

2010

In Silico Analysis of Microarray-Based Gene Expression Profiles Predicts Tumor Cell Response to Withanolides

2012

Withania somnifera (L.) Dunal (Indian ginseng, winter cherry, Solanaceae) is widely used in traditional medicine. Roots are either chewed or used to prepare beverages (aqueous decocts). The major secondary metabolites of Withania somnifera are the withanolides, which are C-28-steroidal lactone triterpenoids. Withania somnifera extracts exert chemopreventive and anticancer activities in vitro and in vivo. The aims of the present in silico study were, firstly, to investigate whether tumor cells develop cross-resistance between standard anticancer drugs and withanolides and, secondly, to elucidate the molecular determinants of sensitivity and resistance of tumor cells towards withanolides. Usi…