Novel sequence variations in LAMA2 andSGCG genes modulating cis-acting regulatory elements and RNA secondary structure

In this study, we detected new sequence variations in LAMA2 and SGCG genes in 5 ethnic populations, and analysed their effect on enhancer composition and mRNA structure. PCR amplification and DNA sequencing were performed and followed by bioinformatics analyses using ESEfinder as well as MFOLD software. We found 3 novel sequence variations in the LAMA2 (c.3174+22_23insAT and c.6085 +12delA) and SGCG (c. (*) 102A/C) genes. These variations were present in 210 tested healthy controls from Tunisian, Moroccan, Algerian, Lebanese and French populations suggesting that they represent novel polymorphisms within LAMA2 and SGCG genes sequences. ESEfinder showed that the c. (*) 102A/C substitution created a new exon splicing enhancer in the 3'UTR of SGCG genes, whereas the c.6085 +12delA deletion was situated in the base pairing region between LAMA2 mRNA and the U1snRNA spliceosomal components. The RNA structure analyses showed that both variations modulated RNA secondary structure. Our results are suggestive of correlations between mRNA folding and the recruitment of spliceosomal components mediating splicing, including SR proteins. The contribution of common sequence variations to mRNA structural and functional diversity will contribute to a better study of gene expression.     

A case of Kearns–Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes,buccal mucosa and hair follicles

Kearns–Sayre syndrome is a mitochondrial disorder characterized by the emergence before the age of 20 years of progressive external ophthalmoplegia, pigmentary retinopathy, with other heterogeneous clinical manifestations. Generally, mitochondrial DNA deletions were associated with KSS but the size and position of these deletions differ among patients. This study reported a Tunisian patient with typical features of KSS. Long-range PCR amplification of the mtDNA in different tissues from this patient showed multiple mitochondrial deletions: two novel 9.768 and 7.253 kb deletions spanning respectively nucleotides 6124–15,893 and 8572–15,826 associated with the common 4.977 kb deletion.     

Cognitive Dissonance Resolution Is Related to Episodic Memory

The notion that our past choices affect our future behavior is certainly one of the most influential concepts of social psychology since its first experimental report in the 50 s, and its initial theorization by Festinger within the “cognitive dissonance” framework. Using the free choice paradigm (FCP), it was shown that choosing between two similarly rated items made subjects reevaluate the chosen items as more attractive and the rejected items as less attractive. However, in 2010 a major work by Chen and Risen revealed a severe statistical flaw casting doubt on most previous studies. Izuma and colleagues (2010) supplemented the traditional FCP with original control conditions and concluded that the effect observed could not be solely attributed to this methodological flaw. In the present work we aimed at establishing the existence of genuine choice-induced preference change and characterizing this effect. To do so, we replicated Izuma et al.’ study and added a new important control condition which was absent from the original study. Moreover, we added a memory test in order to measure the possible relation between episodic memory of choices and observed behavioral effects. In two experiments we provide experimental evidence supporting genuine choice-induced preference change obtained with FCP. We also contribute to the understanding of the phenomenon by showing that choice-induced preference change effects are strongly correlated with episodic memory.     

Involvement of IL17A,IL17F and IL23R Polymorphisms in Colorectal Cancer Therapy

IL23/IL17 pathway plays an important role in the development of inflammatory bowel diseases (IBD). In general, the genes encoding the cytokines are genetically polymorphic and polymorphisms in genes IL23R and IL17 have been proved to be associated with its susceptibility to inflammatory diseases as well as cancer including colorectal cancer. Moreover, it has been shown that these interleukins are involved in anti-tumor or pro-tumor effects of various cancers. Previously, we showed that there is a significant association between IL17A, IL17F and IL23R polymorphisms as well as the occurrence of colorectal cancer and the clinical features of the disease. The purpose of the present work is to investigate an association between IL17A, IL17F and IL23R polymorphisms in 102 Tunisian patients with colorectal cancer treatment. The association was analyzed by statistical tools. We found that patients with mutated genotypes of IL17A G197A SNP could be a risk factor for the inefficiency of chemotherapy and radiotherapy. Unlike IL17F variant, patients with wild type genotypes require surgery and adjuvant chemotherapy. On the one hand, we found no evidence that supports a significant association between IL23R polymorphism and the combined genotypes of these three genes and the colorectal cancer treatment. On the other hand, we showed that there is an important interaction between IL17A/IL17F polymorphisms and the stage of the disease as well as its treatment. Finally, patients with IL17F wild type genotype highlighted that there is a valid longer OS without all treatments and with radiotherapy and a neoadjuvant chemotherapy. In contrast, we observed that there are no relationships between IL17A, IL23R and the survival of these patients neither with nor without the treatment. Our results suggest that polymorphisms in IL17A and IL17F genes may be a predictive source of colorectal cancer therapy type. Therefore, IL17F may serve as an independent prognostic factor for overall survival in patients with colorectal cancer.     

In‐planta sporulation phenotype: a major life history trait to understand the evolution of Alnus‐infective Frankia strains

Two major types of Frankia strains are usually recognized, based on the ability to sporulate in‐planta: spore‐positive (Sp+) and spore‐negative (Sp?). We carried out a study of Sp+ and Sp? Frankia strains based on nodules collected on Alnus glutinosa, Alnus incana and Alnus viridis. The nodules were phenotyped using improved histology methods, and endophytic Frankia strain genotype was determined using a multilocus sequence analysis approach. An additional sampling was done to assess the relation between Sp+ phenotype frequency and genetic diversity of Frankia strains at the alder stand scale. Our results revealed that (i) Sp+ and Sp? Alnus‐infective Frankia strains are genetically different even when sampled from the same alder stand and the same host–plant species; (ii) there are at least two distinct phylogenetic lineages of Sp+ Frankia that cluster according to the host–plant species and without regard of geographic distance and (iii) genetic diversity of Sp+ strains is very low at the alder stand scale compared with Sp? strains. Difference in evolutionary history and genetic diversity between Sp+ and Sp? Frankia allows us to discuss the possible ecological role of in‐planta sporulation.     

Reboot the system thanks to protein post-translational modifications and proteome diversity: How quiescent seeds restart their metabolism to prepare seedling establishment

Once liberated in their environment, orthodox seeds live in a quiescent dehydrated state not totally exempt of essential molecular events as, for example, the capacity of breaking dormancy during after-ripening. Upon imbibition, if internal regulatory padlocks are released and given adequate external conditions, the quiescent seed is able to "reboot" its system and, thus, germinate. Recent studies unraveled the crucial importance of protein PTMs in seed dormancy, longevity and vigor. As compared to other plant developmental stages, the seed proteome appears quite unique and diverse. Seed proteins encompass several functional classes from primary and secondary metabolism to structural and antimicrobial defense. In the dry state, oxidative damages can occur due to reactive oxygen and nitrogen species produced by non-enzymatic reactions. These reactive species can affect proteins by the oxidation of their amino acids in a post-translational manner. The hormone abscisic acid regulates major aspects of seed life including dormancy and germination. This signaling pathway has been shown to rely on several PTMs such as protein phosphorylation or ubiquitination.     

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness,Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death. BAP31 is encoded by BCAP31, located in human Xq28 and highly expressed in neurons. We identified loss-of-function mutations in BCAP31 in seven individuals from three families. These persons suffered from motor and intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes, which together define an X-linked syndrome. In the primary fibroblasts of affected individuals, we found that BCAP31 deficiency altered ER morphology and caused a disorganization of the Golgi apparatus in a significant proportion of cells. Contrary to what has been described with transient-RNA-interference experiments, we demonstrate that constitutive BCAP31 deficiency does not activate the unfolded protein response or cell-death effectors. Rather, our data demonstrate that the lack of BAP31 disturbs ER metabolism and impacts the Golgi apparatus, highlighting an important role for BAP31 in ER-to-Golgi crosstalk. These findings provide a molecular basis for a Mendelian syndrome and link intracellular protein trafficking to severe congenital brain dysfunction and deafness.     

Dung beetle assemblages organization in two contrasted areas of the Mediterranean region: affinities and divergences

Quantification of the species richness and diversity is important when comparing sites; these variables are influenced by local and regional factors. The structure of assemblages of dung beetles as well as their species composition and diversity were compared between two sites on both sides of the Mediterranean Sea (France FR and Tunisia TN). From a total of 132 traps, 15,778 specimens were collected belonging to 86 species (46 in FR vs. 40 in TN). Species composition varied highly between FR and TN (only 10 species in common). The temporal occurrence of Aphodiidae and Scarabaeidae showed different patterns due to several factors: phenology of species, geographical distribution and local ecological requirements. When quantifying the beta diversity, the turnover of species was for almost cases higher within the same season than between seasons. Moreover, seasonal turnover was different at both sites. Evenness and rank-abundance analyses demonstrated that autumn-winter was the most constraining season in FR, with one dominant species (Agrilinus constans) in winter assemblages (96.8% of individuals). Conversely summer was the most constraining season in TN, with Onthophagus taurus as dominant species in assemblages (87.7%). The influence of local and historical factors is discussed.