Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome

Background: The development of the face occurs during the early days of intrauterine life by the formation of facial processes from the first Pharyngeal arch. Derangement in these well-organized fusion events results in Orofacial clefts (OFC). Van der Woude syndrome (VWS) is one of the most common causes of syndromic cleft lip and/or palate accounting for 2% of all cases. Mutations in the IRF6 gene account for 70% of cases with the majority of these mutations located in the DNA-binding (exon 3, 4) or protein-binding domains (exon 7-9). The current study was designed to update the list of IRF6 variants reported for VWS by compiling all the published mutations from 2013 to date as well as including the previously unreported VWS cases from Africa and Puerto Rico.Methods: We used PubMed with the search terms; "Van der Woude syndrome," "Popliteal pterygium syndrome," "IRF6," and "Orofacial cleft" to identify eligible studies. We compiled the CADD score for all the mutations to determine the percentage of deleterious variants.Results: Twenty-one new mutations were identified from nine papers. The majority of these mutations were in exon 4. Mutations in exon 3 and 4 had CADD scores between 20 and 30 and mutations in exon 7-9 had CADD scores between 30 and 40. The presence of higher CADD scores in the protein-binding domain (exon 7-9) further confirms the crucial role played by this domain in the function of IRF6. In the new cases, we identified five IRF6 mutations, three novel missense mutations (p.Phe36Tyr, p.Lys109Thr, and p.Gln438Leu), and two previously reported nonsense mutations (p.Ser424*and p.Arg250*).Conclusion: Mutations in the protein and DNA-binding domains of IRF6 ranked among the top 0.1% and 1% most deleterious genetic mutations, respectively. Overall, these findings expand the range of VWS mutations and are important for diagnostic and counseling purposes.</p

Response of Maize (Zea mays L.) Genotypes to Liquid Effluents from a Non-alcoholic Beverage Company in Ibadan, Nigeria

Aims:&nbsp;This study was conducted to investigate the effect of liquid effluents discharged from a non-alcoholic beverage company on the growth of maize genotypes. Study Design:&nbsp;The screenhouse experiment was laid out in complete randomised design. Place and Duration of Study:&nbsp;The experiment was conducted at the nursery farm of the Department of Botany, University of Ibadan, Nigeria, between January and February and repeated between March and April, 2018. Materials and Methods:&nbsp;Maize genotypes; TZM – 1439, TZM – 29, TZM – 1288 and TZM - 1165 were obtained from maize germplasm in IITA Ibadan while the liquid effluent was collected from a bottling company in Ibadan and diluted with sterile distilled water into four different concentrations (0, 80, 90 and 100%). The varying concentration levels were evaluated on each maize genotype. Effluent was applied in the soil of the respective treatment at 200ml /pot/ day starting from the 10th&nbsp;day after planting. Data gathered on plants’ growth characters were subjected to ANOVA α0.05. Results:&nbsp;Maize cultivars treated with effluents concentrations, especially at 100% level significantly (p &lt; 0.05) resulted in increased plant height (31.17 and 28.67 cm), stem length (7.81 and 7.53 cm), leaf length (22.18 and 20.63 cm) and leaf number (3.72, 3.61%) compare to the control respectively. Among the maize genotypes evaluated, TZM–1439, TZM-29 and TZM–1288 showed the most significant (p&lt;0.05) effect on all the growth characters measured. No significant correlation exists between the effluent concentrations and genotypes with the growth characters, while the eigen proportion ranged from Prin 1 (67.10%) to Prin 5 (2.22%). Conclusion:&nbsp;The effluent from non-alcoholic beverage company’s treated maize plants recorded better growth performances at higher concentrations compare to the control experiment and could be further investigated for use in irrigation farming towards sustainability in agriculture