Hearing loss and impaired fertility are common human disorders each with multiple genetic causes. Sometimes deafness and impaired fertility, which are the hallmarks of Perrault syndrome, co-occur in ...a person. Perrault syndrome is inherited as an autosomal recessive disorder characterized by bilateral mild to severe childhood sensorineural hearing loss with variable age of onset in both sexes and ovarian dysfunction in females who have a 46, XX karyotype. Since the initial clinical description of Perrault syndrome 70 years ago, the phenotype of some subjects may additionally involve developmental delay, intellectual deficit and other neurological disabilities, which can vary in severity in part dependent upon the genetic variants and the gene involved. Here, we review the molecular genetics and clinical phenotype of Perrault syndrome and focus on supporting evidence for the eight genes (
CLPP
,
ERAL1
,
GGPS1
,
HARS2
,
HSD17B4
,
LARS2
,
RMND1
,
TWNK
) associated with Perrault syndrome. Variants of these eight genes only account for approximately half of the individuals with clinical features of Perrault syndrome where the molecular genetic base remains under investigation. Additional environmental etiologies and novel Perrault disease-associated genes remain to be identified to account for unresolved cases. We also report a new genetic variant of
CLPP
, computational structural insight about CLPP and single cell RNAseq data for eight reported Perrault syndrome genes suggesting a common cellular pathophysiology for this disorder. Some unanswered questions are raised to kindle future research about Perrault syndrome.
Water is mainly used in moving vehicles as a coolant to remove the engine’s heat mostly through forced convection heat transfer. However, mixtures of water and anti-freezing materials like ethylene ...glycol (EG) are also used as coolant. In the present research work, a mixture of EG and water (50:50) mixed with ZnO nanoparticle, called nanofluid, is utilized in a car radiator. Different volume concentrations of ZnO nanoparticles (0.01%, 0.02%, 0.03% and 0.04%) have been added in base fluid. It has been observed that overall heat transfer coefficient and heat transfer rate enhanced with different volume concentrations by mixing ZnO particle in base fluid, while flow rate varied in a range of 4–12 LPM (litre per minute). A maximum enhancement in heat transfer rate up to 36% has been observed experimentally at 0.04% volume concentration of ZnO nanoparticle. Greater heat transfer rate has been observed at low flow rate, i.e. at 4 LPM and 6 LPM, as compared to higher flow rate, and contribution of inlet temperature is found to be minimum in transferring the heat.
Nitrogen is an important plant nutrient that has a significant role in crop yield. Hence, to fulfill the needs of sustainable agriculture, it is necessary to improve biological nitrogen fixation in ...leguminous crops. Nod inducing gene families plays a crucial role in the interaction between rhizobia and legumes, leading to biological nitrogen fixation. However, nod inducing genes identification and characterization has not yet been performed in Arachis hypogaea. In this study, identification and genome-wide analysis of nod inducing genes are performed so that to explore their potential functions in the Arachis hypogaea for the first time. Nod genes were comprehensively analyzed by phylogenetic clustering analysis, gene structure determination, detection of conserved motifs, subcellular localization, conserved motifs, cis-acting elements and promoter region analysis. This study identified 42 Nod inducing genes in Arachis hypogaea, their sequences were submitted to NCBI and accession numbers were obtained. Potential involvement of these genes in biological nitrogen fixation has been unraveled, such as, phylogenetic analysis revealed that nod inducing genes evolved independently in Arachis hypogaea, the amino acid structures exhibited 20 highly conserved motifs, the proteins are present at different locations in cells and the gene structures revealed that all the genes are full-length genes with upstream intronic regions. Further, the promoter analysis determined a large number of cis-regulatory elements involved in nodulation. Moreover, this study not only provides identification and characterization of genes underlying developmental and functional stages of nodulation and biological nitrogen fixation but also lays the foundation for further revelation of nod inducing gene family. Besides, identification and structural analysis of these genes in Arachis hypogaea may provide a theoretical basis for the study of evolutionary relationships in future analysis.
In this article, the mixed convective heat transfer to Sisko fluid over a radially stretching surface in the presence of convective boundary conditions is investigated. The viscous dissipation and ...thermal radiation effects are also taken into account. The suitable transformations are applied to convert the governing partial differential equations into a set of nonlinear coupled ordinary differential equations. The analytical solution of the governing problem is obtained by using the homotopy analysis method (HAM). Additionally, these analytical results are compared with the numerical results obtained by the shooting technique. The obtained results for the velocity and temperature are analyzed graphically for several physical parameters for the assisting and opposing flows. It is found that the effect of buoyancy parameter is more prominent in case of the assisting flow as compared to the opposing flow. Further, in tabular form the numerical values are given for the local skin friction coefficient and local Nusselt number. A remarkable agreement is noticed by comparing the present results with the results reported in the literature as a special case.
Potato is an extremely important food crop due to its high nutritional and economic value; however, this crop suffers losses due to water-deficient conditions. The aim of the study was to analyze the ...expression profiles of the StDREB30 gene and to study the enzymatic antioxidant system of transgenic potatoes under water-deficient situations. The results depicted that following drought and 20% polyethylene glycol 6000 stresses, transgenic plants showed vigorous growth, increased antioxidant activities, low malondialdehyde, and enhanced differential expression of StDREB30 in transgenics compared to control plants. Results suggest that StDREB30 overexpression mitigated the negative effects of water-deficit treatments by reducing oxidative damage in plants. Hence, the StDREB30 gene retains extensive potential for crop bioengineering to generate highly tolerant crop plants.
•Collection of wild mushrooms.•Estimation of proximate content.•Estimation of mineral content.•Identification of chemical compounds by GC/MS, FT-IR.•Molecular identification of wild mushroom.
For a ...very long time, diverse civilizations all over the world have recognised that mushrooms, which are the fruiting bodies of fungi, have medicinal characteristics and used to treat different kinds of human diseases. As a result of intensive research, the bioactive components of mushrooms used in Asian traditional medicine have been determined. The present investigation was designed to assess the GC–MS and molecular characterization along with proximate and mineral content properties of Ganoderma lucidum and Pleurotus ostreatus wild mushrooms. For the molecular identification of ITS metagenomics is used. For the compound identification GC–MS is used. Standard procedures are used to determine the proximate and mineral composition. A maximum dry matter contents present in P. ostreatus (96.21±0.068 %) and G. lucidum has (95.13±0.72 %). High content of moisture present in G. lucidum (4.87 ± 0.057 %) as compared to P. ostreatus. A vital amount of crude fibre in present in G. lucidum. G. lucidum has high amount of crude protein (21.87± 0.044 %), while P. ostreatus has 13.66 ± 0.80. An appreciable amount of nutritionally vital carbohydrate is present in P. ostreatus (65.15±0.946) followed by G. lucidum (34.12 ± 0.451). Higher amount of energy value (315.37±2.173 %) present in P. ostreatus as compared to G. lucidum 195.07±1.631 %, furthermore, high nitrogen free extract (61.1 ± 0.946 %), and a high free fatty (2.44±0.064 %) are present in P. ostreatus. Iron (Fe), and Copper (Cu) were abundant in G. lucidum while Zn and Mn is in lower amount. The P. ostreatus contain maximum amount of Fe followed by Zn, Mn and Cu. The FT-IR spectra of G. lucidum shows alcohol, vinyl/phenyl ester, and alkane methylene and aldehyde groups. Conjugated ketone, aliphatic ether and phenols groups present in P. ostreatus. Seventy bioactive compounds were identified in G. lucidum and P. ostreatus through GC–MS. Theses compounds contain the biological activities like; antimicrobial, antioxidant, cytotoxicity, antitumor, anticancer, anti-inflammatory and anti-androgenic. Blast sequence analysis of at NCBI shows 99 % similarities and successfully confirmed with Ganoderma lucidum (OQ117088) and Pleurotus ostreatus (OQ119156).
Transcription factors are regulatory proteins known to modulate gene expression. These are the critical component of signaling pathways and help in mitigating various developmental and stress ...responses. Among them, bZIP, BBR, and BZR transcription factor families are well known to play a crucial role in regulating growth, development, and defense responses. However, limited data is available on these transcription factors in Triticum aestivum. In this study, bZIP, BBR, and BZR sequences from Brachypodium distachyon, Oryza sativa, Oryza barthii, Oryza brachyantha, T. aestivum, Triticum urartu, Sorghum bicolor, Zea mays were retrieved, and dendrograms were constructed to analyze the evolutionary relatedness among them. The sequences clustered into one group indicated a degree of evolutionary correlation highlighting the common lineage of cereal grains. This analysis also exhibited that these genes were highly conserved among studied monocots emphasizing their common ancestry. Furthermore, these transcription factor genes were evaluated for envisaging conserved motifs, gene structure, and subcellular localization in T. aestivum. This comprehensive computational analysis has provided an insight into transcription factor evolution that can also be useful in developing approaches for future functional characterization of these genes in T. aestivum. Furthermore, the data generated can be beneficial in future for genetic manipulation of economically important plants.
This research work was focused to evaluate the concentration of heavy metals (i.e., Cr, Pb, Mn, Cu and Fe) in sediment samples collected from the Dhaleshwari River near the area of a newly ...established tannery industrial estate, Savar, Bangladesh. The heavy metals in sediment samples were ascertained by the atomic absorption spectrophotometer (AAS). This study revealed that the metal concentration for chromium (Cr), lead (Pb), manganese (Mn), copper (Cu) and iron (Fe) were found to be 14.8–748 (186 ± 241) mg/kg, 2.38–21.1 (8.78 ± 6.15) mg/kg, 1.59–6.29 (3.12 ± 1.38) mg/kg, 0.36–4.75 (1.76 ± 1.47) mg/kg and 3.87–154 (42.7 ± 49.1) mg/kg (dry wt) respectively. The concentration of heavy metals in sediment samples descends with the following order: Cr > Fe > Pb > Mn > Cu. Sediment contamination was assessed on the basis of geo-accumulation index (Igeo), contamination factor (CF) and pollution load index (PLI). The average Igeo values for Cr, Pb, Mn, Cu and Fe were found to be (−0.44 ± 1.87), (−2.18 ± 1.20), (−8.80 ± 0.63), (−5.80 ± 1.36) and (1.59 ± 1.87) respectively. The Igeo values values of Cr and Fe for some sampling stations were found to be higher. The PLI value for all the sample stations (S1-S8) were 0.58, 0.66, 0.71, 0.69, 0.88, 0.86, 0.83 and 0.83 correspondingly. The CF values for Cr and Fe in some stations was observed at moderate, considerate and high contamination level. The spatial distribution of heavy metals in the study area was presented by interpolation technique. The results of spatial distribution pattern showed that the high concentrated zones of Cr was found at the dumping zone (~S5) of the leather industrial city. On the other hand, the spatial distribution pattern for the studied metals (Pb, Mn, Cu and Fe) showed that the maximum metals concentrations were found in the southeastern part, which was nearby effluent dumping zone. The ecological risk assessment in sediment samples revealed that there is no significant risk observed by the metal(oid)s at this moment. Considering Cr concentration, the modified hazard quotient (mHQ) showed that about 75% of the samples were low to severely polluted by Cr, while 25% of the samples were extremely polluted by Cr as well as mHQ ≤ 3.5. Based on PMF analysis, two potential sources of heavy metals were identified in the study region: first, biochemical and leather tanning industries (Cr); second, the mixed effect of geogenic sources and atmospheric deposition and traffic emission (Fe and Pb).
•The conc. for Cr, Pb, Mn, Cu and Fe in sediment samples were determined by AAS.•The concentration of heavy metals in sediment descends Cr > Fe > Pb > Mn > Cu•Spatial distribution pattern showed that the high Cr conc was found at the dumping zone•There is no significant ecological risk was observed by the metal(oid)s in the study area.•PMF analysis revealed two potential sources of heavy metals in the study region
Plants require copper for normal growth and development and have evolved an efficient system for copper management based on transport proteins such as P
-ATPases, also known as heavy metal ATPases ...(HMAs). Here, we report HMAs in eleven different Poaceae species, including wheat. Furthermore, the possible role of wheat HMAs in copper stress was investigated. BlastP searches identified 27 HMAs in wheat, and phylogenetic analysis based on the Maximum Likelihood method demonstrated a separation into four distinct clades. Conserved motif analysis, domain identification, gene structure, and transmembrane helices number were also identified for wheat HMAs using computational tools. Wheat seedlings grown hydroponically were subjected to elevated copper and demonstrated toxicity symptoms with effects on fresh weight and changes in expression of selected HMAs TaHMA7, TaHMA8, and TaHMA9 were upregulated in response to elevated copper, suggesting a role in wheat copper homeostasis. Further investigations on these heavy metal pumps can provide insight into strategies for enhancing crop heavy metal tolerance in the face of heavy metal pollution.
Drought is one of the hostile environmental stresses that limit the yield production of crop plants by modulating their growth and development. Peanut (
Arachis hypogaea
) has a wide range of ...adaptations to arid and semi-arid climates, but its yield is prone to loss due to drought. Other than beneficial fatty acids and micronutrients, peanut harbors various bioactive compounds including flavonoids that hold a prominent position as antioxidants in plants and protect them from oxidative stress. In this study, understanding of the biosynthesis of flavonoids in peanut under water deficit conditions was developed through expression analysis and correlational analysis and determining the accumulation pattern of phenols, flavonols, and anthocyanins. Six peanut varieties (BARD479, BARI2011, BARI2000, GOLDEN, PG1102, and PG1265) having variable responses against drought stress have been selected. Higher water retention and flavonoid accumulation have been observed in BARI2011 but downregulation has been observed in the expression of genes and transcription factors (TFs) which indicated the maintenance of normal homeostasis. ANOVA revealed that the expression of flavonoid genes and TFs is highly dependent upon the genotype of peanut in a spatiotemporal manner. Correlation analysis between expression of flavonoid biosynthetic genes and TFs indicated the role of
AhMYB111
and
AhMYB7
as an inhibitor for
AhF3H
and
AhFLS
, respectively, and
AhMYB7, AhTTG1
, and
AhCSU2
as a positive regulator for the expression of
Ah4CL, AhCHS, and AhF3H
, respectively. However,
AhbHLH
and
AhGL3
revealed nil-to-little relation with the expression of flavonoid biosynthetic pathway genes. Correlational analysis between the expression of TFs related to the biosynthesis of flavonoids and the accumulation of phenolics, flavonols, and anthocyanins indicated coregulation of flavonoid synthesis by TFs under water deficit conditions in peanut. This study would provide insight into the role of flavonoid biosynthetic pathway in drought response in peanut and would aid to develop drought-tolerant varieties of peanut.
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