Genes flow by the channels of culture: the genetic imprint of matrilocality in Ngazidja, Comoros Islands

International audienc

Qui meurt de la peste ? Approche interdisciplinaire.

International audienc

Les patronymes en région sud-paca : structure de la population durant le XIXième siècle à travers l’isonymie

International audienc

Les patronymes en région SUD : structure de la population au XIXes à travers l’isonymie

International audienc

Short (16-mer) locked nucleic acid splice-switching oligonucleotides restore dystrophin production in Duchenne Muscular Dystrophy myotubes.

Splice-switching antisense oligonucleotides (SSOs) offer great potential for RNA-targeting therapies, and two SSO drugs have been recently approved for treating Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA). Despite promising results, new developments are still needed for more efficient chemistries and delivery systems. Locked nucleic acid (LNA) is a chemically modified nucleic acid that presents several attractive properties, such as high melting temperature when bound to RNA, potent biological activity, high stability and low toxicity in vivo. Here, we designed a series of LNA-based SSOs complementary to two sequences of the human dystrophin exon 51 that are most evolutionary conserved and evaluated their ability to induce exon skipping upon transfection into myoblasts derived from a DMD patient. We show that 16-mers with 60% of LNA modification efficiently induce exon skipping and restore synthesis of a truncated dystrophin isoform that localizes to the plasma membrane of patient-derived myotubes differentiated in culture. In sum, this study underscores the value of short LNA-modified SSOs for therapeutic applications

Surnames in south-eastern France: structure of the rural population during the 19th century through isonymy

International audienceAbstract An analysis of the distribution of surnames through time and space allows us to understand the structure of human groups, their exchanges or even their possible isolation. The French population has already been studied through surnames and it has been shown that the Sud-Provence-Alpes-Côte d’Azur region differed from the rest of France in both the 20th and 21st centuries (Mourrieras et al. , 1995; Scapoli et al. , 2005). The objective of this study was to understand the population evolution and particularities of the Sud-Provence-Alpes-Côte d’Azur region through an analysis of the distribution of surnames over an earlier period: the 19th century. For this work, 806,069 birth records from 521 communes between 1810 and 1890 were recorded and a total of 23,340 surnames were collected. The estimation of various isonymic parameters has allowed a description of this corpus never exploited before. In order to appreciate the population evolution, the data set was divided into three periods of 25 years. The canton was the geographical unit of this study, and similarities and differences between each of them were evaluated using Lasker distances, which allow the construction of dendrograms. A positive and significant correlation ( p <0.0001) was found between Lasker distances and geographical distances using the Mantel test. The lowest inbreeding estimates were found in the Durance Valley. Migration, estimated from the v -index of Karlin and McGregor (1967), showed higher values in the south-western quarter of the region. The decrease in R st values across the three periods is consistent with a homogenization of the patronymic between the cantons. This three-period approach showed a population evolution influenced by linguistic, cultural, historical and migratory phenomena since the Middle Ages, disrupted by the socioeconomic changes of the 19th century

Algerian Arabizi rumour detection based on morphosyntactic analysis

International audienceSocial networks have become a customary news media source in recent times. However the openness and unrestricted way sharing the information on social networks fosters spreading rumors which may cause severe damages economically, socially, etc. Motivated by this, our paper focuses on the rumor detection problem in Algerian Arabizi. Studying linguistic rules of the Algerian Arabizi, we propose an lemmatiser and a parser for analysing and standardizing the text in order to produce better rumor detection models. An approach for classifying rumors and news in social networks based on the expression of emotions and positions of users is proposed. The experiments were done on many ngram representation and the best one has reached more than 94% for f-score. In addition to that this research deals with resources creation for Algerian Arabizi which is an under-resourced dialect. A corpus and several lexicons have been built and which can be the subject of other works dealing with this dialect

Analysis of dystrophin protein restoration.

<p>(A) Western blot analysis of total proteins extracted from cells derived from a healthy individual (KM155) and a DMD patient (DM8036). Patient myoblasts were either transfected with SSO 51.1c at the indicated concentrations or mock transfected. Western blotting was carried out at day 2 of differentiation using antibodies to dystrophin and Lamin A/C. The position of molecular weight markers (MWM) is indicated. (B) Immunofluorescence analysis of cells derived from a healthy individual (KM155) and a DMD patient (DM8036) at day 7 of differentiation using anti-dystrophin antibody (red staining). Nuclei were counterstained with DAPI (blue staining). Patient myoblasts were either transfected with the indicated SSOs at 50 nM or mock transfected.</p

RT-PCR analysis of exon 51 skipping.

<p>(A) Schematic representation of <i>DMD</i> exons with the location of primers used for retrotranscription and RT-PCR analysis of exon 51 skipping; expected sizes of PCR products are indicated. (B) DM8036 cells were transfected with SSO 51.1c at the indicated concentrations and analyzed 2 days after induction of myotube differentiation. Electrophoresis of PCR products in agarose gels shows non-skipped and skipped transcripts. Mock: mock transfection; -RT: no retrotranscriptase. (C) Percentage of exon skipping induced by each SSO at day 7 post-induction of myotube differentiation. Values were obtained from quantification of the gels shown in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0181065#pone.0181065.s001" target="_blank">S1 Fig</a> and represent mean ± SEM. (D) Dose-response curves of the two most efficient SSOs. EC50: half maximal effective concentration.</p