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Zinc is recognized to have a crucial function in insulin production. As a result, its absence may have a deleterious impact on the progression of diabetes and associated consequences. So, this study was undertaken to evaluate the effect of sesame oil on biochemical parameters, zinc status, and oxidative stress biomarkers in streptozotocin (STZ)-induced diabetic rats fed zinc-deficient diet. Rats were divided into four groups. The first group consisted of non-diabetic rats that were fed in a sufficient zinc diet, whereas the second was a diabetic group which received also sufficient zinc diet, while the third and fourth groups were diabetic rats fed in a deficient zinc diet, one was non-treated and the other was treated with sesame oil 6% diet for 27 days. Zinc deficiency has affected the weight of the diabetic animals. It was also noticed that inadequate dietary zinc intake increased concentrations of glucose, cholesterol, triglycerides, malondialdehyde, and transaminases activities. Furthermore, zinc deficiency feed provoked a decrease in zinc level in tissues (femur, liver, and pancreas); glutathione concentration; and lactic dehydrogenase, amylase, catalase, superoxide dismutase, and glutathione-S-transferase activities. However, sesame oil treatment ameliorated all the previous parameters approximately to their normal values. It was found out that sesame oil supplementation is a potent factor in mitigating the oxidative severity of zinc deficiency in diabetes through its effective antioxidant potential.

The Kettara abandoned mine, Morocco, is a highly acid drainage-generating site with negative impacts. In order to impede the water–oxygen migration within tailings of Kettara mine, a store-and-release (SR) cover made with phosphate mine wastes (PMW) layers was implemented on the tailings of Kettara mine in five experimental cells. The characterization of vegetation is an important aspect of the monitoring strategy for the SR cover. In this optic, the objective of this study was to follow the local flora dynamic on the SR cover. Furthermore, this research highlighted the potential of this flora for the development of other appropriate phytomanagement plans of mining wastes. The monitoring surveys were carried out over five years (March 2015–April 2019). Six permanent transects were placed on five-constructed cells. The method of Line Intercept Transect was used to evaluate the vegetation cover and to determinate the floristic composition and relative frequency of the species. Plant diversity was quantified by Shannon diversity (H′) and Pielou evenness (J') indices. Four functional groups of plants were identified; therophytes and chamaephytes were the most abundant. Among 19 recorded families on SR cover, the most widely represented were Compositae (26.83%), Leguminosae and Poaceae with 9.76%, Apiaceae and Brassicaceae with 7.32% of the total taxa for each one of them. Of the 39 identified vascular species on SR cover, the most abundant were Anacyclus valentinus L., Calendula arvensis M.Bieb., Emex spinosa (L.) Campd., Hirschfeldia incana (L.) Lagr.-Foss., Spergularia rubra (L.) J.Presl & C.Presl, Stipa capensisthunb, and Herniaria cinerea L. Significant differences in Shannon diversity index (H′) were observed between the sampling areas (p > 0.05), it ranged from 0.739 to 3.857 bits/ind. on SR cover. The Pielou evenness index was not significantly different through transects; it varied from 0.578 to 0.978. These values indicated an equitable distribution of individuals within species on the investigated transects. The study revealed 29 vascular plant species that represent a great potential to be promoted for the phytomanagement of mine wastes in the context of arid and semi-arid environments.

Intraflagellar transport (IFT) is an evolutionarily conserved mechanism essential for the assembly and maintenance of most eukaryotic cilia and flagella, including mammalian sperm tails. Depletion of IFT27, a component of the IFT complex, in male germ cells results in infertility associated with disrupted sperm flagella structure and motility. Leucine zipper transcription factor-like 1 (LZTFL1) is an IFT27 associated protein. LZTFL1, also known as BBS17, is a Bardet-Biedl syndrome (BBS) associated protein. Patients carrying biallelic variants of LZTFL1 gene exhibit the common BBS phenotypes. The global Lztfl1 knockout mice showed abnormal growth rate and retinal degeneration, typical of BBS phenotype. However, it is not clear if Lztfl1 has a role in male fertility. The LZTFL1 protein is highly and predominantly expressed in mouse testis. During the first wave of spermatogenesis, the protein is only expressed during spermiogenesis phase from the round spermatid stage and displays a cytoplasmic localization with a vesicular distribution pattern. At the elongated spermatid stage, LZTFL1 is present in the developing flagella and appears also close to the manchette. Fertility of Lztfl1 knockout mice was significantly reduced and associated with low sperm motility and a high level of abnormal sperm (astheno-teratozoospermia). In vitro assessment of fertility revealed reduced fertilization and embryonic development when using sperm from homozygous mutant mice. In addition, we observed a significant decrease of the testicular IFT27 protein level in Lztfl1 mutant mice contrasting with a stable expression levels of other IFT proteins, including IFT20, IFT81, IFT88 and IFT140. Overall, our results support strongly the important role of LZTFL1 in mouse spermatogenesis and male fertility.

BackgroundOligoasthenoteratozoospermia is a typical feature of sperm malformations leading to male infertility. Only a few genes have been clearly identified as pathogenic genes of oligoasthenoteratozoospermia.Methods and resultsHere, we identified a homozygous frameshift variant (c.731dup, p.Asn244Lysfs*3) in CCDC34, which is preferentially expressed in the human testis, using whole-exome sequencing in a cohort of 100 Chinese men with multiple morphological abnormalities of the sperm flagella (MMAF). In an additional cohort of 167 MMAF-affected men from North Africa, Iran and France, we identified a second subject harbouring a homozygous CCDC34 frameshift variant (c.799_817del, p.Glu267Lysfs*72). Both affected men presented a typical MMAF phenotype with an abnormally low sperm concentration (ie, oligoasthenoteratozoospermia). Transmission electron microscopy analysis of the sperm flagella affected by CCDC34 deficiency further revealed dramatic disorganisation of the axoneme. Immunofluorescence assays of the spermatozoa showed that CCDC34 deficiency resulted in almost absent staining of CCDC34 and intraflagellar transport-B complex-associated proteins (such as IFT20 and IFT52). Furthermore, we generated a mouse Ccdc34 frameshift mutant using CRISPR-Cas9 technology. Ccdc34-mutated (Ccdc34mut/mut) male mice were sterile and presented oligoasthenoteratozoospermia with typical MMAF anomalies. Intracytoplasmic sperm injection has good pregnancy outcomes in both humans and mice.ConclusionsOur findings support that CCDC34 is crucial to the formation of sperm flagella and that biallelic deleterious mutations in CCDC34/Ccdc34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.

The ability of agriculture to continuously feed a growing world population depends essentially on the use of effective and sustainable strategies to control crop diseases. Currently used bacterial ...

Mentha suaveolens Ehrh is a plant that belongs to the lamiaceae family. It is widely used in traditional medicine because of its various therapeutic properties. The main objective of this study is ...

The current study aimed to investigate the nesting behavior and breeding chronology of the crested coot (Fulica cristata) in Morocco’s high altitude wetlands. We monitored nesting activities and breeding phenology in two wetlands, Zerrouka and Hachlaf lakes, to achieve our goals. Besides, nesting materials and nest dimensions were analyzed to characterize the crested coot nests. As a result, 52 nests were found in two sites, 18 in Zerouka and 34 in Hachlaf. Nests were built by available twigs on each site, and nest dimensions varied between analyzed wetlands. Nests were larger in Zerrouka compared to Hachlaf Lake. To protect their nests, coots select open waters and submerged vegetation as nesting sites. On the other hand, breeding chronology, including nesting, laying, and hatching dates, was earlier in Zerrouka Lake than Hachlaf. The nesting activities started at Zerrouka during January and February, while at Hachlaf, breeding attempts started during April.

The aim of this study was to assess the phytochemical content, antioxidant, antibacterial and allelopathic properties of various solvent extracts of Cynara cardunculus (L.) stalks. Dichloromethane, chloroform, ethyl acetate and ethanol were used for the preparation of extracts. The results revealed that the ethyl acetate extract has large amounts of polyphenols (180.35 ± 2.97 mg EAG/g DW), flavonoids (74.32 ± 4.46 mg QE/g DW), and flavonols (7.79 ± 0.00 mg QE/g DW). Furthermore, the ethanol extract of C. cardunculus was the richest in condensed tannin content (45.24 ± 0.36 mg CE/ g DW). The antioxidant effects of the extracts were determined by 2,2-diphenyl-1-picrylhydrazyl (DPPH) assay method, which showed that the ethyl acetate extract possesses the strongest activity (IC50 = 0.13 ± 0.02 mg/ml). The extracts were also tested against Gram-positive (Bacillus subtilis, Staphylococcus aureus, Staphylococcus epidermidis) and Gram-negative (Escherichia coli, Pseudomonas aeruginosa) microorganisms using the microdilution assay. Among the tested extracts, the ethyl acetate and ethanol extracts exhibited the strongest antibacterial activity against B. subtilis, with minimum inhibitory concentration (MIC) values of 0.019 and 0.039 mg/ml, respectively. The allelopathic activity results demonstrated that the ethyl acetate extract at the highest concentration of 1 mg/ ml induces maximum reduction, showing 100% inhibition of Coriandrum sativum (L.) and Cuminum cyminum (L.) seeds. Thus, these findings suggest that C. cardunculus extracts may serve as potential sources for new antioxidant, antibacterial phytochemicals and natural herbicides. Keywords: Cynara cardunculus, phytochemical profile, antioxidant effect, antibacterial activity, allelopathic potential

Tau is a microtubule-associated protein involved in Alzheimer's disease. However, little is known on its physiological function in the healthy central nervous system. Here, we observed that the expression of Tau isoforms was modulated by neuronal maturation and visual experience in the mouse retina and in the visual cortex. The visual function of wild-type (WT) and Tau knockout (KO) mice was evaluated using the optokinetic reflex (OKR), an innate visuomotor behavior, and by electroretinography. Visual tests did not reveal functional impairments in young adult and old Tau KO animals. Moreover, monocular deprivation (MD) was used to increase OKR sensitivity, a plasticity phenomenon depending on the visual cortex. MD-induced OKR sensitivity enhancement was significantly stronger in Tau KO than in WT mice suggesting that Tau restricts visual plasticity. In addition, human Tau expression did not affect visual function and plasticity in a mouse tauopathy model, relative to WT controls. Our results unveil a novel function for Tau in the adaptive mechanisms of plasticity operating in the adult brain subjected to sensory experience changes.

The parasitic weed, Orobanche crenata, is one of the most devastating constraint for faba bean production in Mediterranean regions. Plant host defense induction was reported as one of the most appropriate control methods in many crops. The aim of this study was to elucidate the effect of salicylic acid (SA) and indole acetic acid (IAA) on the induction of faba bean resistance to O. crenata under the field and controlled experimental conditions. Both hormones were tested on two contrasting faba bean genotypes: Giza 843 (partially resistant to O. crenata) and Lobab (susceptible) at three different application methods (seed soaking, foliar spray, and the combination of both seed soaking and foliar spray). Soaking seeds in SA or IAA provided the highest protection levels reaching ~75% compared to the untreated control plants. Both elicitors limited the chlorophyll content decrease caused by O. crenata infestation and increased phenolic compound production in host plants. Phenylalanine ammonia lyase, peroxidase, and polyphenol oxidase activities were stimulated in the host plant roots especially in the susceptible genotype Lobab. The magnitude of induction was more obvious in infested than in non-infested plants. Histological study revealed that both SA and IAA decreased the number of attached O. crenata spikes which could be related to specific defense responses in the host plant roots.

Salinity is one of the most abiotic stresses restricting wheat growth and productivity in arid and semi-arid regions. This study was carried out to examine the effect of salt stress induced by sodium chloride (NaCl) at different concentration levels (0, 50, 100 and 150 mM) on seed germination rate, root length, roots number, coleoptile length, root and shoot fresh weights of eleven durum wheat varieties. The results revealed significant differences among the genotypes for all the measured parameters. The increase in NaCl concentrations showed concomitant decrease in all morphological attributes, but varied depending on cultivars and levels of salinity. Seed germination rate and root length demonstrated a linear response to NaCl treatment, while significant linear and quadratic regression on salinity for roots number, coleoptile length, root and shoot fresh weights were observed. The cluster analysis based on Ward’s method sequestrated the studied genotypes into three clusters. Seed germination rate and root length showed the lowest difference among the groups; and the remaining traits: roots number, coleoptile length, root and shoot fresh weights were the most indicative of salt-tolerance. Waha, Megress and GTA dur were the most tolerant genotypes that could be used as donors of choice in wheat breeding programs targeting the improvement of salinity tolerance during the seedling stage.

To maintain cellular identities during development, gene expression profiles must be faithfully propagated through cell generations. The reestablishment of gene expression patterns upon mitotic exit is thought to be mediated, in part, by mitotic bookmarking by transcription factors (TF). However, the mechanisms and functions of TF mitotic bookmarking during early embryogenesis remain poorly understood. In this study, taking advantage of the naturally synchronized mitoses of Drosophila early embryos, we provide evidence that the pioneer-like transcription factor GAF acts as stable mitotic bookmarker during zygotic genome activation. We report that GAF remains associated to a large fraction of its interphase targets including at cis-regulatory sequences of key developmental genes, with both active and repressive chromatin signatures. GAF mitotic targets are globally accessible during mitosis and are bookmarked via histone acetylation (H4K8ac). By monitoring the kinetics of transcriptional activation in living embryos, we provide evidence that GAF binding establishes competence for rapid activation upon mitotic exit.

Male infertility is an important health concern that is expected to have a major genetic etiology. Although high-throughput sequencing has linked gene defects to more than 50% of rare and severe sperm anomalies, less than 20% of common and moderate forms are explained. We hypothesized that this low success rate could at least be partly due to oligogenic defects – the accumulation of several rare heterozygous variants in distinct, but functionally connected, genes. Here, we compared fertility and sperm parameters in male mice harboring one to four heterozygous truncating mutations of genes linked to multiple morphological anomalies of the flagellum (MMAF) syndrome. Results indicated progressively deteriorating sperm morphology and motility with increasing numbers of heterozygous mutations. This first evidence of oligogenic inheritance in failed spermatogenesis strongly suggests that oligogenic heterozygosity could explain a significant proportion of asthenoteratozoospermia cases. The findings presented pave the way to further studies in mice and man.

This experiment was conducted at the Field Crops Institute, Agricultural Experimental Station of Setif (ITGC-AES), Eastern semi-arid areas of Algeria, during two successive cropping seasons, 2010/11 and 2011/12. The aim of the study was to evaluate the association of yield and yield-related traits and determine the direct and indirect effects of yield-related traits on grain yield. The plant materials consisted of 330 F3 and 174 F4 durum wheat lines along with their four parents and one control cultivar, which were evaluated under rainfed conditions in a semi-arid region. Data on nine agronomic traits were recorded. Sufficient genetic variability was observed among wheat traits as indicated by the minimum and maximum mean values and confirmed by the phenotypic and genotypic coefficients of variation that took intermediate and high estimates for most of the traits evaluated both in F3 and F4 generations. A high heritability (>60%) was observed for almost all the traits studied indicating the involvement of the additive action of genes in their genetic determinism. Results of stepwise regression and path analysis showed that biological yield, harvest index and number of spikes were the most determinant components of grain yield, exhibiting high positive direct effects (0.697, 0.683 and 0.293 in F3 vs 0.695, 0.205 and 0.560 in F4, respectively) coupled with positive and significant correlations (r=0.696*, r=0.778* and r=0.127* in F3 vs r=0.686*, r=0.628* and r=0.491* in F4, respectively) with this trait. These three yield-contributing traits can be considered as suitable indirect selection criteria to improve grain yield in the subsequent generation of the wheat breeding program. RESUMEN Este experimento se llevó a cabo en el Instituto Cultivos de Campo, Estación Experimental Agrícola de Setif (ITGC-AES), áreas semiáridas del este de Argelia durante dos temporadas de cultivo sucesivas, 2010/11 y 2011/12. El objetivo de este estudio fue evaluar la asociación de rendimiento y rasgos relacionados con el rendimiento y determinar los efectos directos e indirectos de los rasgos relacionados con el rendimiento de grano. El material vegetal consistió en líneas de trigo duro 330 F3 y 174 F4 junto con sus cuatro padres y un cultivar testigo que se evaluaron en condiciones de secano en una región semiárida. Se registraron datos sobre nueve características agronómicas. Se observó suficiente variabilidad genética entre los rasgos del trigo según lo indicado por los valores medios mínimo y máximo y confirmado por los coeficientes de variación fenotípicos y genotípicos que tomaron estimaciones intermedias y altas para la mayoría de los rasgos evaluados tanto en las generaciones F3 como F4. Se observó una alta heredabilidad (> 60%) para casi todos los rasgos estudiados, lo que indica la participación de la acción aditiva de los genes en su determinismo genético. Los resultados de la regresión escalonada y el análisis de ruta mostraron que el rendimiento biológico, el índice de cosecha y el número de espigas revelaron efectos directos positivos elevados junto con correlaciones positivas y significativas con el rendimiento de grano, exhibiendo grandes efectos positivos directos (0.697, 0.683 y 0.293 en F3 vs 0.695, 0.205 y 0.560 en F4, respectivamente) acoplados con correlaciones positivas y significativas (r=0.696*, r=0.778* y r=0.127* en F3 vs r=0.686*, r=0.628* y r=0.491* en F4, respectivamente) con este rasgo.. Estos tres rasgos que contribuyen al rendimiento se consideran como los mejores criterios de selección indirecta para mejorar el rendimiento de grano en la generación posterior de este programa de mejoramiento de trigo.

International audience; Spermatozoa are polarized cells with a head and a flagellum joined together by the connecting piece. Flagellum integrity is critical for normal sperm function, and flagellum defects consistently lead to male infertility. Multiple morphological abnormalities of the flagella (MMAF) is a distinct sperm phenotype consistently leading to male infertility due to a reduced or absent sperm motility associated with severe morphological and ultrastructural flagellum defects. Despite numerous genes recently described to be recurrently associated with MMAF, more than half of the cases analyzed remain unresolved, suggesting that many yet uncharacterized gene defects account for this phenotype. By performing a retrospective exome analysis of the unsolved cases from our initial cohort of 167 infertile men with a MMAF phenotype, we identified one individual carrying a homozygous frameshift variant in CFAP206, a gene encoding a microtubule-docking adapter for radial spoke and inner dynein arm. Immunostaining experiments in the patient's sperm cells demonstrated the absence of WDR66 and RSPH1 proteins suggesting severe radial spokes and calmodulin and spoke-associated complex defects. Using the CRISPR-Cas9 technique, we generated homozygous Cfap206 knockout (KO) mice which presented with male infertility due to functional, structural and ultrastructural sperm flagellum defects associated with a very low rate of embryo development using ICSI. Overall, we showed that CFAP206 is essential for normal sperm flagellum structure and function in human and mouse and that bi-allelic mutations in CFAP206 cause male infertility in man and mouse by inducing morphological and functional defects of the sperm flagellum that may also cause ICSI failures.

Phenotypic diversity, biochemical components and pungency strength were assessed for eighteen spicy pepper accessions from Maleh valley in Morocco. Six plant samples were randomly collected in farmers' field across three target localities during 2015 growing season. Eight fruits from each sampled plant were characterized using eight phenotypic qualitative traits and biochemical components. Results revealed a wider genetic variability within accessions (52%) than among accessions (43%) and among sites (5%), leading to a substantial genetic differentiation among accessions (PhiPR=0.453***) and within accessions (PhiPT=0.477***) and a strong seed exchange network. The greater part of trait frequency was accounted for fruit shape (SWI=0.132), texture of fruit surface (SWI=0.270), fruit attitude (SWI=0.260), pericarp sinuation (SWI=0.119) and for fruit color (SWI=0.246) and brightness (SWI =0.218). Biochemical components analysis revealed that spicy fruits of Maleh valley are identified as having high nutritional value; carbohydrates (53.2mg/g FW), total phenolic compounds (73.3mgGAE/100g), and total lipids (1.27mg/g DM) were composed mainly of unsaturated fatty acid (87%) and a high ratio of ω6/ω3 (5.6). Furthermore, Capsaicinoids concentration (2.16mg/gDM) varied among accessions from 1.67 to 2.82 while the ratio of capsaicin/dihydrocapsaicin (1.83) was similar in all accessions. Fruit spicy was categorized into highly pungent group (27550.5 - 44780.7 SHU) according to Scoville organoleptic test.

In Algeria, barley (Hordeum vulgare L.) is the second most cultivated cereal after wheat; however, this crop is challenged by several foliar diseases. Net blotch is one of the most common diseases of barley in Algeria and is caused by the fungus Pyrenophora teres (Died.) Drechsler, which occurs in two forms: P. teres f. teres (Ptt), causing the net form (NFNB), and P.teres f. maculata (Ptm), causing the spot form (SFNB). Since the two forms are morphologically similar but genetically distinct, several PCR primer sets have been developed for their differentiation in the past. In this study, net blotch symptom types were monitored in 58 fields, through almost all cereal-growing areas in Algeria, then 212 P. teres mono-spore isolates were analyzed with respect to the occurrence of Ptt and Ptm by using two type-specific primer pairs. The results indicate that Ptt is the dominating type of net blotch in Algeria and was prevalent in almost all provinces surveyed, while Ptm was found less frequently. This is the first characterization of the Algerian net blotch population with the aim to distinguish both forms and, therefore, could contribute to a wider knowledge of the epidemics of this important plant pathogen.

BackgroundMale infertility is a prevalent issue worldwide, mostly due to the impaired sperm motility. Multiple morphological abnormalities of the sperm flagella (MMAF) present aberrant spermatozoa with absent, short, coiled, bent and irregular-calibre flagella resulting in severely decreased motility. Previous studies reported several MMAF-associated genes accounting for approximately half of MMAF cases.Methods and resultWe conducted genetic analysis using whole-exome sequencing in 88 Han Chinese MMAF probands. CFAP65 homozygous mutations were identified in four unrelated consanguineous families, and CFAP65 compound heterozygous mutations were found in two unrelated cases with MMAF. All these CFAP65 mutations were null, including four frameshift mutations (c.1775delC [p.Pro592Leufs*8], c.3072_3079dup [p.Arg1027Profs*41], c.1946delC [p.Pro649Argfs*5] and c.1580delT [p.Leu527Argfs*31]) and three stop-gain mutations (c.4855C>T [p.Arg1619*], c.5270T>A [p.Leu1757*] and c.5341G>T [p.Glu1781*]). Additionally, two homozygous CFAP65 variants likely affecting splicing were identified in two MMAF-affected men of Tunisian and Iranian ancestries, respectively. These biallelic variants of CFAP65 were verified by Sanger sequencing and were absent or very rare in large data sets aggregating sequence information from various human populations. CFAP65, encoding the cilia and flagella associated protein 65, is highly and preferentially expressed in the testis. Here we also generated a frameshift mutation in mouse orthologue Cfap65 using CRISPR-Cas9 technology. Remarkably, the phenotypes of Cfap65-mutated male mice were consistent with human MMAF.ConclusionsOur experimental observations performed on both human subjects and on Cfap65-mutated mice demonstrate that the presence of biallelic mutations in CFAP65 causes the MMAF phenotype and impairs sperm motility.

Genetic parameters such as leaf relative water content, leaf chlorophyll content, plant height, above-ground biomass, harvest index, grain yield, and grain yield components of Bousselam/Mrb5 durum wheat (Triticum durum Desf.) cross were estimated based on generation means analysis. A, B, C, and D scaling and Chi-square (χ2) tests revealed the inadequacy of the simple additive-dominance model. This result suggests the presence of digenic epistasis for most studied traits; the duplicate epistasis was present for relative water content, above-ground biomass, and grain yield; and complementary epistasis was observed for chlorophyll content. Significant genotypic correlation coefficients appeared among grain yield, relative water content, and above-ground biomass. This suggests useful indirect selection criteria to improve simultaneously these traits, which showed significant heritability. It can be concluded that the traits investigated show a complex genetic behavior, which implies that early selection would be less efficient; therefore, it is recommended delaying the selection to advanced generations to benefit from the reduction of non-fixable genetic variation and exploit transgressive segregators due to the significant interaction additivity×additivity (i) of the gene and duplicated epistasis. RESUMEN Los parámetros genéticos como el contenido relativo de agua en la hoja, el contenido de clorofila en la hoja, la altura de la planta, la biomasa sobre el suelo, el índice de cosecha, el rendimiento de grano y los componentes de rendimiento de grano del cruce de trigo duro Bousselam/Mrb5 (Triticum durum Desf.) se estimaron con base al análisis de medias generacionales. Las pruebas de escala A, B, C, D y Chi-cuadrado (χ2) revelaron la insuficiencia del modelo simple de dominio aditivo. Este resultado sugiere la presencia de epistasis digénica para los rasgos más estudiados; la epistasis duplicada estuvo presente para el contenido relativo de agua, la biomasa aérea y el rendimiento de grano; y se observó epistasis complementaria para el contenido de clorofila. Aparecieron coeficientes genotípicos de correlación significativos entre rendimiento de grano, contenido relativo de agua y biomasa sobre el suelo. Esto sugiere criterios útiles de selección indirecta para mejorar simultáneamente estos rasgos, que mostraron una heredabilidad significativa. Se puede concluir que los rasgos investigados muestran un comportamiento genético complejo, lo que implica que la selección temprana sería menos eficiente; por lo tanto, se recomendaría retrasar la selección a generaciones avanzadas para beneficiarse de la reducción de la variación genética no reparable y explotar los segregadores transgresores debido a la interacción significativa aditividad×aditividad (i) del gen y la epistasis duplicada.

Multiple morphological anomalies of the sperm flagella (MMAF syndrome) is a severe male infertility phenotype which has so far been formally linked to the presence of biallelic mutations in nine genes mainly coding for axonemal proteins overexpressed in the sperm flagellum. Homozygous mutations in QRICH2, a gene coding for a protein known to be required for stabilizing proteins involved in sperm flagellum biogenesis, have recently been identified in MMAF patients from two Chinese consanguineous families. Here, in order to better assess the contribution of QRICH2 in the etiology of the MMAF phenotype, we analyzed all QRICH2 variants from whole exome sequencing data of a cohort of 167 MMAF-affected subjects originating from North Africa, Iran, and Europe. We identified a total of 14 potentially deleterious variants in 18 unrelated individuals. Two unrelated subjects, representing 1% of the cohort, carried a homozygous loss-of-function variant: c.3501C>G [p.Tyr1167Ter] and c.4614C>G [p.Tyr1538Ter], thus confirming the implication of QRICH2 in the MMAF phenotype and human male infertility. Sixteen MMAF patients (9.6%) carried a heterozygous QRICH2 potentially deleterious variant. This rate was comparable to what was observed in a control group (15.5%) suggesting that the presence of QRICH2 heterozygous variants is not associated with MMAF syndrome.

BackgroundMale infertility due to multiple morphological abnormalities of the sperm flagella (MMAF) is a genetically heterogeneous disorder. Previous studies revealed several MMAF-associated genes, which account for approximately 60% of human MMAF cases. The pathogenic mechanisms of MMAF remain to be illuminated.Methods and resultsWe conducted genetic analyses using whole-exome sequencing in 50 Han Chinese probands with MMAF. Two homozygous stop-gain variants (c.910C>T (p.Arg304*) and c.3400delA (p.Ile1134Serfs*13)) of theSPEF2(sperm flagellar 2) gene were identified in two unrelated consanguineous families. Consistently, an Iranian subject from another cohort also carried a homozygousSPEF2stop-gain variant (c.3240delT (p.Phe1080Leufs*2)). All these variants affected the longSPEF2transcripts that are expressed in the testis and encode the IFT20 (intraflagellar transport 20) binding domain, important for sperm tail development. Notably, previous animal studies reported spontaneous mutations ofSPEF2causing sperm tail defects in bulls and pigs. Our further functional studies using immunofluorescence assays showed the absence or a remarkably reduced staining of SPEF2 and of the MMAF-associated CFAP69 protein in the spermatozoa fromSPEF2-affected subjects.ConclusionsWe identifiedSPEF2as a novel gene for human MMAF across the populations. Functional analyses suggested that the deficiency of SPEF2 in the mutated subjects could alter the localisation of other axonemal proteins.

Lentil (Lens culinaris Medik.) is one of the legume crops greatly affected by Orobanche crenata parasitism in the Mediterranean region. Losses caused can reach 100%. Development of resistant cultivars remains the most promising way to reduce Orobanche damage. Our objective was to assess the resistance levels of 17 Moroccan lentil cultivars to this parasitic weed through field, pot, and Petri dish evaluations. Field results revealed large variation for Orobanche infestation levels among assessed genotypes; emerged orobanche spikes ranged from 0.09 to 0.70 per host plant. In pot and Petri dish experiments, number of Orobanche infestation events (OIE) varied from 1.25 to 7 and from 3 to 26, respectively. Principal components analysis (PCA) based on infestation parameters recorded in all trials indicated that the first two components explained 79.7% of the total variance observed and suggested that severity examined in the field could be a suitable selection criterion for resistance to O. crenata. LR9...

Tetraclinis articulata (Thuya of Barbary), endemic to North Africa, is used as a traditional medicine for the treatment of many diseases [1]. We investigated the antidiarrhoel properties of the butanol extract of Tetraclinis articulata (BETA) in male and female Swiss albino mice to support its traditional use. The antidiarrhoeal activity of the plant extract was evaluated in a model of castor oil-induced diarrhoea model in mice and compared to loperamide (a reference inhibitor of diarrhoea). The effect of (BETA) on gastrointestinal motility was determined by the oral administration of charcoal and Castrol oil-induced intestinal fluid accumulation (enteropooling).The (BETA) showed remarkable antidiarrhoeal activity significantly inhibited gastrointestinal motility and castor oil induced enteropolysis (68,18%), more than to the inhibition achieved in loperamide treated mice (60,16%). The second aim of the present study was to evaluate the anti-ulcerative activity of The (BETA), it produced percent protection of control colitis by 77, 40%, while the standard drug (aspirin) produced 81,39% protection. We conclude that Tetraclinis articulata extracts are potential sources of new anti-ulcer agents and antidiarrhoeal drugs.

The present study aimed to investigate the extent of variability and relationships between grain yield and morpho-physiological durum wheat traits. Sufficient variability was observed for most characters. Based on stress indices, either widely or specifically, adapted lines were identified. Path analysis pointed out to above ground biomass, harvest index, spike fertility and spike number as yield determinants, suggesting that these traits are of interest in the breeding program. The measured traits were classified within 6 principal components accounting for 79.45 % of the total variation. Breeding lines dispersed along first principal component exhibited substantial differences in performance and stress tolerance abilities. Cluster C3 lines were high yielding and stress tolerant. From this cluster, lines L24 and L14 were scored as the best for 7 and 5 traits out of 17 characters, respectively. Both lines are proposed for release and as parents in crosses to take advantage of their desirable characteristics. The results indicated that physiological traits were unrelated to each other and to morphological traits making difficult the concomitant selection for yield and stress tolerance driven by these traits. Complexes crosses, between parents carefully chosen for these specific characteristics, are necessary to enhance favorable genetic linkage and to generate new basic segregating populations with high genetic variability for these traits.

International audience; Cilia and flagella are formed around an evolutionary conserved microtubule-based axoneme and are required for fluid and mucus clearance, tissue homeostasis, cell differentiation and movement. The formation and maintenance of cilia and flagella require bidirectional transit of proteins along the axonemal microtubules, a process called intraflagellar transport (IFT). In humans, IFT defects contribute to a large group of systemic diseases, called ciliopathies, which often display overlapping phenotypes. By performing exome sequencing of a cohort of 167 non-syndromic infertile men displaying multiple morphological abnormalities of the sperm flagellum (MMAF) we identified two unrelated patients carrying a homozygous missense variant adjacent to a splice donor consensus site of IFT74 (c.256G>A;p.Gly86Ser). IFT74 encodes for a core component of the IFT machinery that is essential for the anterograde transport of tubulin. We demonstrate that this missense variant affects IFT74 mRNA splicing and induces the production of at least two distinct mutant proteins with abnormal subcellular localization along the sperm flagellum. Importantly, while IFT74 deficiency was previously implicated in two cases of Bardet-Biedl Syndrome (BBS), a pleiotropic ciliopathy with variable expressivity, our data indicate that this missense mutation only results in primary male infertility due to MMAF, with no other clinical features. Taken together, our data indicate that the nature of the mutation adds a level of complexity to the clinical manifestations of ciliary dysfunction, thus contributing to the expanding phenotypical spectrum of ciliopathies.

Defects in the structure or motility of cilia and flagella may lead to severe diseases such as primary ciliary dyskinesia (PCD), a multisystemic disorder with heterogeneous manifestations affecting primarily respiratory and reproductive functions. We report that CFAP61 is a conserved component of the Calmodulin and radial Spoke associated Complex (CSC) of cilia. We find that a CFAP61 splice variant, c.143+5G>A, causes exon skipping in human, inducing a multiple morphological abnormalities of the flagella (MMAF) phenotype. We generated Cfap61 knockout mice that recapitulate the infertility phenotype of the human CFAP61 mutation, but without other symptoms usually observed in PCD. We find that CFAP61 interacts with the CSC, radial spoke stalk and RS head. During early stages of Cfap61−/− spermatid development, the assembly of RS components is impaired. With the progress of spermiogenesis, the axoneme in Cfap61−/− cells becomes unstable and scatters, and the distribution of intraflagellar transport proteins is disrupted. This study reveals an organ specific mechanism of axoneme stabilization that is related to male infertility.

The ubiquitous family of dimeric transcription factors AP-1 is made up of Fos and Jun family proteins. It has long been thought to operate principally at gene promoters and how it controls transcription is still ill-understood. The Fos family protein Fra-1 is overexpressed in triple negative breast cancers (TNBCs) where it contributes to tumor aggressiveness. To address its transcriptional actions in TNBCs, we combined transcriptomics, ChIP-seqs, machine learning and NG Capture-C. Additionally, we studied its Fos family kin Fra-2 also expressed in TNBCs, albeit much less. Consistently with their pleiotropic effects, Fra-1 and Fra-2 up- and downregulate individually, together or redundantly many genes associated with a wide range of biological processes. Target gene regulation is principally due to binding of Fra-1 and Fra-2 at regulatory elements located distantly from cognate promoters where Fra-1 modulates the recruitment of the transcriptional co-regulator p300/CBP and where differences in AP-1 variant motif recognition can underlie preferential Fra-1- or Fra-2 bindings. Our work also shows no major role for Fra-1 in chromatin architecture control at target gene loci, but suggests collaboration between Fra-1-bound and -unbound enhancers within chromatin hubs sometimes including promoters for other Fra-1-regulated genes. Our work impacts our view of AP-1.

The broad objective of this research is to study the effect of warm stratification on Cycas revoluta zygotic embryos length, seed germination and plant development. Four warm treatments were applied to seeds. Our results showed that seeds storage at room temperature or 30°C improved significantly zygotic embryos length. Moreover, time of germination was significantly reduced with the warm stratification. The highest percentage of germination was obtained with seeds warm treated at 30°C for 2 months while only 25% of seeds were able to germinate in the control. Regarding seedlings development, our results demonstrated that warm stratification did not affect plant development. No significant differences have been recorded in all the evaluated parameters except for root length. Taken together, these results underlined the beneficial effect of warm stratification on Cycas revoluta seed germination and plant development and proposed a new method to improve seed germination of Cycas revoluta.

Atriplex semibaccata R.Br. is a perennial halophyte that has received much attention for studies of revegetation of marginal lands in arid and semi-arid environments. It was, recently, demonstrated that there are no risks in terms of contamination of essential oil (EO) from growing plant on such land. Interest in exploring the antibacterial and antioxidant potential of A. semibaccata EO has consequently been renewed. The objective of this study was to investigate the chemical composition, as well as the antioxidant and antibacterial activities of A. semibaccata EO. The antibacterial activity was evaluated against native (drug-sensitive) and multidrug-resistant (MDR) bacteria by testing the EO alone and in combination with conventional antibiotics. The chemical composition of EO was analyzed by gas chromatography/mass spectrometry, 52 chemical compounds were identified, and 2-Methoxy-4-vinyl phenol (48.9%), benzaldehyde (6.7%), and benzyl alcohol (6.3%) were found to be the main constituents of EO. Furthermore, the antioxidant activity was evaluated using a 2,2-diphenyl-1-picrylhydrazyl reducing–scavenging test. The EO from this species possessed high antioxidant activity (938.65 μg TE/g EO). The antibacterial test demonstrated an inhibitory effect on six native and MDR bacterial strains. We found that Staphylococcus aureus (Gram+), Klebsiella pneumoniae (Gram−), and Escherichia coli (Gram−) were more sensitive than MDR strains, with an inhibition zone ranging from 11.16 mm to 12 mm. Moreover, the minimum inhibitory concentration ranged from 3.12 mg/mL to 6.25 mg/mL. The combination of gentamicin and EO revealed a high synergistic effect. The effect on S. aureus and K. pneumoniae showed lower fractional inhibitory concentration indices of 0.39 and 0.27, respectively. The results also revealed that A. semibaccata EO contained compounds with antibacterial potential against MDR bacteria, with antioxidant properties, and with a moderate synergistic effect in combination with gentamicin. The EO from A. semibaccata could be considered a new and potential source of natural antioxidant and antibacterial agents. These findings make A. semibaccata an excellent choice for the revegetation of marginal lands with the subsequent use of biomass for the production of EO with significant potential in the control of microbial infection.

The sense of hearing depends on a specialized sensory organ in the inner ear, called the cochlea, which contains the auditory hair cells (HCs). Noise trauma, infections, genetic factors, side effects of ototoxic drugs (ie, some antibiotics and chemotherapeutics), or simply aging lead to the loss of HCs and their associated primary neurons. This results in irreversible sensorineural hearing loss (SNHL) as in mammals, including humans; the inner ear lacks the capacity to regenerate HCs and spiral ganglion neurons. SNHL is a major global health problem affecting millions of people worldwide and provides a growing concern in the aging population. To date, treatment options are limited to hearing aids and cochlear implants. A major bottleneck for development of new therapies for SNHL is associated to the lack of human otic cell bioassays. Human induced pluripotent stem cells (hiPSCs) can be induced in two‐dimensional and three‐dimensional otic cells in vitro models that can generate inner ear progenitors and sensory HCs and could be a promising preclinical platform from which to work toward restoring SNHL. We review the potential applications of hiPSCs in the various biological approaches, including disease modeling, bioengineering, drug testing, and autologous stem cell based‐cell therapy, that offer opportunities to understand the pathogenic mechanisms of SNHL and identify novel therapeutic strategies., Schematic of the various applications of induced pluripotent stem cell (IPSC) modular platform to challenge sensorineural hearing loss. IPSCs can be generated via genetic reprogramming of somatic cells from patient/healthy subject. In the inner ear, this technology has emerged as a promising tool for disease modeling, bioengineering, drug screening/validation and as an otic sensory progenitor source for autologous sensory cell replacement. In the cochlear epithelium, inner hair cells are arranged in a single row and outer hair cells are arranged in three rows (blue color). The supporting cells (yellow color) surround the sensory hair cells (HC).

Six wild olive subspecies (Olea europaea L.) are currently recognised globally, with two taxa cooccurring in the argan tree area in Central West Morocco: the widespread Mediterranean subspecies europaea var. Sylvestris (the so-called oleaster) and the microendemic subspecies maroccana. Despite its taxonomic and ecological importance, the chemical composition of subsp. maroccana oil remains poorly known. Therefore, the aim of this study is to investigate the oil content and the chemical composition of subsp. maroccana and var. Sylvestris as well as comparing their proprieties during two consecutive years (2017 and 2018) from the same geographical area. The fatty acid and the sterol compositions were analysed using gas chromatography. Additionally, the tocopherol content was determined using high-performance liquid chromatography. The total amount of unsaturated fatty acids was higher in maroccana (85.24%) than that in oleasters (79.05%). Additionally, the tocopherol and phytosterol content of the maroccana oil (1232.35 mg/kg and 312.75 mg/100 g, resp.) was approximately twofold higher than in oleasters (661.35 mg/kg and 210.06 mg/100 g, resp.). Analysis of variance and principal component analysis (PCA) of the chemical composition highlighted a significant difference between the quantitative and qualitative properties of their oil. Finally, these findings suggest that maroccana oil could be considered as a potential source of vitamin E, essential fatty acids, and sterols and can provide a nutraceutical oil for the local population. While this work contributes to the study of olive tree biodiversity, further investigations are still necessary to guide the putative nutraceutical use of subspecies maroccana.

International audience; Globozoospermia is a rare phenotype of primary male infertility inducing the production of round-headed spermatozoa without acrosome. Anomalies of DPY19L2 account for 50-70% of all cases and the entire deletion of the gene is by far the most frequent defect identified. Here, we present a large cohort of 69 patients with 20-100% of globozoospermia. Genetic analyses including multiplex ligation-dependent probe amplification, Sanger sequencing and whole-exome sequencing identified 25 subjects with a homozygous DPY19L2 deletion (36%) and 14 carrying other DPY19L2 defects (20%). Overall, 11 deleterious single-nucleotide variants were identified including eight novel and three already published mutations. Patients with a higher rate of round-headed spermatozoa were more often diagnosed and had a higher proportion of loss of function anomalies, highlighting a good genotype phenotype correlation. No gene defects were identified in patients carrying < 50% of globozoospermia while diagnosis efficiency rose to 77% for patients with > 50% of globozoospermia. In addition, results from whole-exome sequencing were scrutinized for 23 patients with a DPY19L2 negative diagnosis, searching for deleterious variants in the nine other genes described to be associated with globozoospermia in human (C2CD6, C7orf61, CCDC62, CCIN, DNAH17, GGN, PICK1, SPATA16, and ZPBP1). Only one homozygous novel truncating variant was identified in the GGN gene in one patient, confirming the association of GGN with globozoospermia. In view of these results, we propose a novel diagnostic strategy focusing on patients with at least 50% of globozoospermia and based on a classical qualitative PCR to detect DPY19L2 homozygous deletions. In the absence of the latter, we recommend to perform whole-exome sequencing to search for defects in DPY19L2 as well as in the other previously described candidate genes.

Valorisation of Argan oil requires the precise identification of different provenances markers. The concentration of tocopherol is regarded as one of the essential parameters that certifies the quality and purity of Argan oil. In this study, 39 Argan samples from six different geographical origins (Safi, Essaouira, Agadir, Taroudant, Tiznit, and Sidi Ifni) from the central west of Morocco were collected and extracted using cold pressing. The total tocopherol amount was found to range from 783.23 to 1,271.68 mg/kg. Generally, γ-tocopherol has the highest concentration in Argan oil. It should also be noted that the geographical origin was found to have a strong effect on the amounts of all tocopherol homologues studied. Principal component analysis of tocopherol concentrations highlighted a significant difference between the different provenances. The content of tocopherol has also been found to be strongly influenced by the distance from the coast and altitude, whereas no significant effect was found regarding other ecological parameters. The prediction ability of the LDA models was 87.2%. The highest correct classification was revealed in coastal provenances (100%), and the lowest values were from the continental ones (71.4%). These results provide the basis for determining the geographical origins of Argan oil production with well-defined characteristics to increase the product’s value and the income of local populations. In addition, this study provides a very promising basis for developing Argan varieties with a high content of tocopherol homologues, as well as contributing to the traceability and protection of Argan oil’s geographical indication.

After the two meiotic divisions, haploid round spermatids undergo dramatic changes to become mature spermatozoa. One of the main transformations consists of compacting the cell nucleus to confer the sperm its remarkable hydrodynamic property and to protect its DNA from the oxidative stress it will encounter during its reproductive journey. Here, we studied an infertile subject with low sperm count, poor motility and highly abnormal spermatozoa with strikingly large heads due to highly uncondensed nuclear sperm DNA. Whole-exome sequencing was performed on the subject’s DNA to identify the genetic defect responsible for this severe sperm anomaly. Bioinformatics analysis of exome sequence data uncovered a homozygous loss of function variant, ENST00000368559.7:c.718-1G>A, altering a consensus splice site expected to prevent the synthesis of the nucleoporin 210 like (NUP210L) protein. High-resolution mass spectrometry of sperm protein extracts did not reveal any NUP210L peptide sequence in the patient’s sperm, contrary to what was observed in control donors, thus confirming the absence of NUP210L in the patient’s sperm. Interestingly, homozygous Nup210l knock-out mice have been shown to be infertile due to a reduced sperm count, a high proportion of round-headed sperm, other head and flagella defects and a poor motility. NUP210L is almost exclusively expressed in the testis and sequence analogy suggests that it encodes a nuclear pore membrane glycoprotein. The protein might be crucial to regulate nuclear trafficking during and/or before spermiogenesis, its absence potentially impeding adequate nuclear compaction by preventing the entry of histone variants/transition proteins/protamines into the nucleus and/or by preventing the adequate replacement of core histones. This work describes a new gene necessary for male fertility, potentially improving the efficiency of the genetic diagnosis of male infertility. The function of NUP210L still remains to be resolved and its future investigation will help to understand the complex mechanisms necessary for sperm compaction.

THE existing work aimed at evaluation of 58 old and modern durum wheat grown under south Mediterranean conditions. The experiment was conducted in a randomized complete block design at two locations (ITGC-AES of Setif and Khroub, Algeria) considered during two successive winter seasons of 2015/16 and 2016/17. Results indicated that, averaged across seasons and locations, modern varieties outperformed older varieties in terms of grain yield, spike number, spike weight, number of kernels per square meter, harvest index, spike fertility and stay green. Old varieties surpassed the modern ones in terms of straw yield, lateness, tallness and flag leaf area. Whereas, modern varieties were stress tolerant and more responsive to improved growth conditions, showing agronomic stability type. Old varieties were characterized by a minimal responsiveness to improved environmental conditions, stress tolerance, and biological stability type. Pearson’s correlation coefficients and path analyses indicate that, in both sources of germoplasm, the strong influence of biomass, spike number, spike fertility and harvest index on grain yield. Physiological traits had negligible direct effects and small indirect effects via biomass, spike number and harvest index. Lastly, principal component analysis revealed that old varieties represent an important gene pool for important traits among which plant height and straw yield. Furthermore, the differences between both sources of germoplasm can be usefully used in breeding program (Gene-bank) to enhance yield potential, stability and resilience to changing climate of the future varieties.

Spermatozoa are polarized cells with a head and a flagellum joined by the connecting piece. Head integrity is critical for normal sperm function, and head defects consistently lead to male infertility. Abnormalities of the sperm head are among the most severe and characteristic sperm defects. Patients presenting with a monomorphic head sperm defects such as globozoospermia or marcrozoospermia were analyzed permitting to identify several key genes for spermatogenesis such as AURKC and DPY19L2. The study of patients with other specific sperm head defects such as acephalic spermatozoa have also enabled the identification of new infertility genes such as SUN5. Here, we review the genetic causes leading to morphological defects of sperm head. Advances in the genetics of male infertility are necessary to improve the management of infertility and will pave the road towards future strategies of treatments, especially for patients with the most severe phenotype as sperm head defects.

Breast cancer is the leading cancer type for women with two million new yearly infections and more than half a million dead worldwide. Human Epidermal Receptor 2 (HER2) is a prominent breast cancer biomarker that indicates aggressive cancer and is often associated with a bad prognosis and low survival rates. However, current detection methods for HER2 are often time-consuming, expensive, and require a high level of expertise. Biosensors are devices that turn biological interaction into a readable electronic signal; they are known for their high specificity and selectivity for low concentration, as well as their low cost and ease of use, thus making them a better alternative to traditional methods. Also, saliva is becoming a better alternative to blood for the detection of biomarkers due to its non-invasive collection in large quantities with simple collection methods with a richness in disease biomarkers including HER2. Thus, this project aims to develop a label-free, low cost, electrochemical biosensor for the detection of HER2 in saliva. This was done by first depositing diazonium salt onto a screen-printed electrode (SPE) through cyclic voltammetry, then immobilizing anti-HER2 antibodies on the activated SPE using 1-ethyl-3-(3-dimethylamino) propyl carbodiimide/N-hydroxysuccinimide. HER2 biomarker concentrations were detected using electrochemical impedance spectroscopy inside a microfluidic system. The biosensor showed a higher linear detection of HER2 (Y = 0.0062X + 0.1066/R2 = 0.9909) in its physiological concentration range of 5 and 40 pg/mL when compared to other interference proteins: Epidermal Growth Factor Receptor (Y = 0.0016X + 0.0188/R2 = 0.8072) and Human Epidermal Receptor 3 (Y = (0.0035X + 0.0225/R2 = 0.1302). The biosensor was then used to detect 10 pg/mL of HER2 concentration in real saliva using the standard addition methods (Y = 0.0118X + 0.1282/R2 = 0.9876).

BackgroundMultiple morphological abnormalities of the flagella (MMAF) consistently lead to male infertility due to a reduced or absent sperm motility defined as asthenozoospermia. Despite numerous genes recently described to be recurrently associated with MMAF, more than half of the cases analysed remain unresolved, suggesting that many yet uncharacterised gene defects account for this phenotypeMethodsExome sequencing was performed on 167 infertile men with an MMAF phenotype. Immunostaining and transmission electron microscopy (TEM) in sperm cells from affected individuals were performed to characterise the ultrastructural sperm defects. Gene inactivation using RNA interference (RNAi) was subsequently performed in Trypanosoma.ResultsWe identified six unrelated affected patients carrying a homozygous deleterious variants in MAATS1, a gene encoding CFAP91, a calmodulin-associated and spoke-associated complex (CSC) protein. TEM and immunostaining experiments in sperm cells showed severe central pair complex (CPC) and radial spokes defects. Moreover, we confirmed that the WDR66 protein is a physical and functional partner of CFAP91 into the CSC. Study of Trypanosoma MAATS1’s orthologue (TbCFAP91) highlighted high sequence and structural analogies with the human protein and confirmed the axonemal localisation of the protein. Knockdown of TbCFAP91 using RNAi impaired flagellar movement led to CPC defects in Trypanosoma as observed in humans.ConclusionsWe showed that CFAP91 is essential for normal sperm flagellum structure and function in human and Trypanosoma and that biallelic variants in this gene lead to severe flagellum malformations resulting in astheno-teratozoospermia and primary male infertility.

Hmga2 protein belongs to the non-histone chromosomal high-mobility group (HMG) protein family. HMG proteins have been shown to function as architectural transcription regulators, facilitating enhanceosome formation on a variety of mammalian promoters. Hmga2 are expressed at high levels in embryonic and transformed cells. Terminally differentiated cells, however, have been reported to express only minimal, if any, Hmga2. Our previous affymetrix array data showed that Hmga2 is expressed in the developing and adult mammalian cochleas. However, the spatio-temporal expression pattern of Hmga2 in the murine cochlea remained unknown. In this study, we report the expression of Hmga2 in developing and adult cochleas using immunohistochemistry and quantitative real time PCR analysis. Immunolabeling of Hmga2 in the embryonic, postnatal, and mature cochleas showed broad Hmga2 expression in embryonic cochlea (E14.5) at the level of the developing organ of Corti in differentiating hair cells, supporting cells, in addition to immature cells in the GER and LER areas. By postnatal stage (P0–P3), Hmga2 is predominantly expressed in the hair and supporting cells, in addition to cells in the LER area. By P12, Hmga2 immunolabeling is confined to the hair cells and supporting cells. In the adult ear, Hmga2 expression is maintained in the hair and supporting cell subtypes (i.e. Deiters’ cells, Hensen cells, pillar cells, inner phalangeal and border cells) in the cochlear epithelium. Using quantitative real time PCR, we found a decrease in transcript level for Hmga2 comparable to other known inner ear developmental genes (Sox2, Atoh1, Jagged1 and Hes5) in the cochlear epithelium of the adult relative to postnatal ears. These data provide for the first time the tissue-specific expression and transcription level of Hmga2 during inner ear development and suggest its potential dual role in early differentiation and maintenance of both hair and supporting cell phenotypes.

Xenoestrogens are artificial products that can be of industrial, agricultural or pharmaceutical origin. We have undertaken work to examine the possible effects of a stressor; a systemic fungicide considered to be an estrogen mimetic, Mancozebe, on tadpoles of an amphibian species; the green frogRana saharica. After treatment for 5 weeks with increasing concentrations of Mancozeb (0.25, 0.50, 0.75 and 1 mg/l). In order to evaluate the biochemical and metabolic aspect and to know the details of the oxidative stress, we performed some assays. A disturbance of the anti-oxidant detoxification systems (Glutathion-S-Transferase GST and Catalase CAT) which are involved in the defense mechanisms against stress caused by Mancozeb was highlighted. We also found an increase in Malondialdehyde (MDA) levels due to lipid peroxidation and neurotoxicity confirmed by inhibition of Acetylcholinesterase (AchE) activity. The induction of oxidative stress prompted us to explore, among other things, the histological side and tissue damage caused by Mancozeb in tadpoles. Our results revealed hepatocyte necrosis and cytoplasmic vacuolation.

During thymic development and upon peripheral activation, T cells undergo extensive phenotypic and functional changes coordinated by lineage-specific developmental programs. To characterize the regulatory landscape controlling T cell identity, we perform a wide epigenomic and transcriptional analysis of mouse thymocytes and naive CD4 differentiated T helper cells. Our investigations reveal a dynamic putative enhancer landscape, and we could validate many of the enhancers using the high-throughput CapStarr sequencing (CapStarr-seq) approach. We find that genes using multiple promoters display increased enhancer usage, suggesting that apparent "enhancer redundancy" might relate to isoform selection. Furthermore, we can show that two Runx3 promoters display long-range interactions with specific enhancers. Finally, our analyses suggest a novel function for the PRC2 complex in the control of alternative promoter usage. Altogether, our study has allowed for the mapping of an exhaustive set of active enhancers and provides new insights into their function and that of PRC2 in controlling promoter choice during T cell differentiation. This work was supported in J.-C.A.’s lab by grants from Fondation pour la Recherche Médicale (FRM) “Amorçage Jeunes Equipes” AJE20130728183, Agence Nationale de la Recherche (ANR) isplice (ANR-11-BSV8-0013), ANR ChromaTin (ANR-10-BLAN-1326), ITMO INCA “Dys3Dpoly,” ESGI 2011 (FP7 funding for high-throughput sequencing), and Ligue Régionale contre le Cancer (Hérault). L.P. was supported by a grant from FRM (4eme année thèse FDT201904007910). The T.S. lab was supported by funds from the European Research Council (ERC) (H2020, Starting Grant 678624 - CHROMTOPOLOGY), the ATIP-Avenir program, and the grant ANR-10-LABX-0030-INRT, under program ANR-10-IDEX-0002-02. A.M.M. is supported by funds from IDEX (University of Strasbourg) and the Institut National Du Cancer.

This study aimed at evaluating the expected gains from selection obtained based upon direct, indirect, and index-based selection in a set of 599 bread wheat lines. The experiment was carried out at the experimental field of INRAA institute, Setif research unit (Algeria), in a Federer augmented block design including three controls. A wide range of genetic variability was observed among lines for the eleven traits assessed. The results indicated that index-based selection and selection based on grain yield expressed higher expected genetic gain than direct and indirect mono-trait-based selection. The best 15 selected lines exhibited higher grain yield than the control varieties, and they were clustered in three groups that contrasted mainly for the flag-leaf area, thousand-kernel weight, biomass, and harvest index. The index-based selection appears as a useful tool for the rapid selection of early filial generations, enriching selected breeding materials with desirable alleles and reducing the number of years required to combine these traits in elite varieties. RESUMEN Este estudio investigó los beneficios esperados de la selección obtenida en base al índice directo, indirecto y basado en la selección en un conjunto de 599 líneas de trigo panadero. El experimento se llevó a cabo en el campo experimental del instituto INRAA, unidad de investigación de Setif (Argelia), en un diseño de bloques aumentados Federer que incluye tres controles. Se observó un gran rango de variabilidad genética entre las líneas para los once rasgos evaluados. Los resultados indicaron que la selección basada en índices y la selección basada en el rendimiento de grano expresaron una mayor ganancia genética esperada que la selección directa e indirecta basada en rasgos individuales. Las 15 primeras líneas seleccionadas exhibieron un mayor rendimiento de grano que los controles y se agruparon en tres grupos que divergieron de manera eficiente para el área de la hoja bandera, el peso de mil granos, la biomasa, el rendimiento de grano y el índice de cosecha. La selección basada en índices aparece como una herramienta útil para la selección rápida de las primeras generaciones filiales; enriqueciendo materiales de reproducción seleccionados con alelos deseables y reduciendo el número de años necesarios para combinar estos rasgos en variedades de élite.

Sperm malformation is a direct factor for male infertility. Multiple morphological abnormalities of the flagella (MMAF), a severe form of asthenoteratozoospermia, are characterized by immotile spermatozoa with malformed and/or absent flagella in the ejaculate. Previous studies indicated genetic heterogeneity in MMAF. To further define genetic factors underlying MMAF, we performed whole-exome sequencing in a cohort of 90 Chinese MMAF-affected men. Two cases (2.2%) were identified as carrying bi-allelic missense DNAH8 variants, variants which were either absent or rare in the control human population and were predicted to be deleterious by multiple bioinformatic tools. Re-analysis of exome data from a second cohort of 167 MMAF-affected men from France, Iran, and North Africa permitted the identification of an additional male carrying a DNAH8 homozygous frameshift variant. DNAH8 encodes a dynein axonemal heavy-chain component that is expressed preferentially in the testis. Hematoxylin-eosin staining and electron microscopy analyses of the spermatozoa from men harboring bi-allelic DNAH8 variants showed a highly aberrant morphology and ultrastructure of the sperm flagella. Immunofluorescence assays performed on the spermatozoa from men harboring bi-allelic DNAH8 variants revealed the absent or markedly reduced staining of DNAH8 and its associated protein DNAH17. Dnah8-knockout male mice also presented typical MMAF phenotypes and sterility. Interestingly, intracytoplasmic sperm injections using the spermatozoa from Dnah8-knockout male mice resulted in good pregnancy outcomes. Collectively, our experimental observations from humans and mice demonstrate that DNAH8 is essential for sperm flagellar formation and that bi-allelic deleterious DNAH8 variants lead to male infertility with MMAF.

The parasitic weed Orobanche crenata is a serious constraint to legumes crops in Mediterranean area. In Morocco, heavy O. crenata infestation level was reported in many faba bean fields. Development of resistant faba bean genotypes remains a good long-term control strategy. So, identification of proper resistance sources remains a first step to attend this goal. In this perspective, six faba bean genotypes were subjected to field and controlled conditions (pot and Petri dishes experiments) evaluation for resistance/tolerance to Moroccan O. crenata. Root exudates and their implication on resistance/susceptibility to O. crenata were also investigated. Results showed a wide range of resistance but no complete resistance was detected. Thus, Giza 843, Misr1, and Misr3 genotypes showed good resistance level as compared to both susceptible genotypes Lobab and Aguadulce. Despite infection, the average yield of the three resistant genotypes was two to fourfold higher than the susceptible genotypes. Resistance of faba bean genotypes to O. crenata seems to occur at different levels of the parasite life cycle through: (1) developing lower host root density, (2) reduced attachment of O. crenata on host roots, and (3) delayed development of infection events on host roots. Furthermore, low induction of O. crenata seed germination could not be taken as an indicator of resistance. Based on low infection level and low impact of parasitism on yield and vegetative growth of host plants, Giza 843 was selected as a promising source of resistance to O. crenata which could be introduced into Moroccan faba bean breeding program.

The incidence of bone tuberculosis is less than 5% of all tuberculosis cases. Furthermore, multifocal bone tuberculosis is uncommon, which rarely occurs without primary foci. It is difficult to diagnose, particularly if it is localized in both humeral heads. On the other hand, the isolated iliac bone tuberculosis is exceptional; it constitutes, also, a challenging diagnosis, which requires a high index of clinical suspicion and advanced investigations. Herein, we first report a case of multifocal tuberculosis of both humeral heads with no primary foci, and we secondarily report a case of isolated iliac bone tuberculosis. At last, however, the histological exam and polymerase chain reaction for the Mycobacterium tuberculosis complex are not always positives; they are mandatory as tests to ascertain the diagnosis.