Current Issue : July - September Volume : 2020 Issue Number : 3 Articles : 5 Articles
Background: Ethiopia has been considered as a center of diversity and the second possible center of\ndomestication of durum wheat. Genetic diversity and population structure analysis in the existing Ethiopian durum\nwheat germplasm have enormous importance in enhancing breeding effort and for sustainable conservation.\nHence, 192 Ethiopian durum wheat accessions comprising 167 landraces collected from major wheat-growing areas\nof the country and 25 improved varieties released from Debre Zeit and Sinana Agricultural Research Centers,\nEthiopia in different years (1994â??2010) were assembled for the current study.\nResults: The panel was genotyped with a High-density 90 K wheat SNP array by Illumina and generated 15,338\npolymorphic SNPs that were used to analyze the genetic diversity and to estimate the population structure. Varied\nvalues of genetic diversity indices were scored across chromosomes and genomes. Genome-wide mean values of\nNeiâ??s gene diversity (0.246) and polymorphism information content (0.203) were recorded signifying the presence of\nhigh genetic diversity within this collection. Minor allele frequency of the genome varied with a range of 0.005 to\n0.5 scoring a mean value of 0.175. Improved varieties clustered separately to landraces in population structure\nanalysis resulted from STRUCTURE, PCA and neighbor joining tree. Landraces clustering was irrespective of their\ngeographical origin signifying the presence of higher admixture that could arise due to the existence of historical\nexchanges of seeds through informal seed system involving regional and countrywide farming communities in\nEthiopia.\nConclusions: Sustainable utilization and conservation of this rich Ethiopian durum wheat genetic resource is an\nirreplaceable means to cope up from the recurrent climate changes and biotic stresses happening widely and\nthereby able to keep meeting the demand of durum productivity for the ever-growing human population....
Background: Osteoarthritis (OA) is the most common form of arthritis and a leading cause of disability. This study\nattempted to investigate the key mRNAs and miRNAs related to OA.\nPatients and methods: From April 17th, 2018 to May 17th, 2018, five patients with OA and three normal controls\nwere enrolled in this present study. To identify the differentially expressed mRNAs (DEmRNAs) and miRNAs\n(DEmiRNAs) between patients with OA and normal controls, RNA-sequencing was performed. Then, DEmiRNAtarget\nDEmRNAs analysis and functional annotation of DEmiRNA-target DEmRNAs were performed. To validate the\nRNA-sequencing results, quantitative real time-PCR (RT-PCR) and western blot analysis were performed as well.\nResults: A total of 1068 DEmRNAs, 21 DEmiRNAs and 395 DEmiRNA-DEmRNA pairs were identified in synovial\ntissues of patients with OA. The functional annotation of DEmiRNA-target DEmRNAs revealed that Pathways in\ncancer and PI3K-Akt signaling pathway were significantly enriched Kyoto Encyclopedia of Genes and Genomes\n(KEGG) pathways. QRT-PCR and western blot results revealed that except for TLR7, the expression level of the others\nwas consistent with the RNA-sequencing results, generally.\nConclusion: The findings of this present study may provide new clues for the roles of DEmRNAs and DEmiRNAs in\nthe pathogenesis of OA....
Background: Solute carrier family 35 (SLC35) is one of a large number of membrane transporter protein families.\nMember D3 of this family is thought to be involved in adipose deposition and metabolic control.\nResults: We obtained 2238 bp cDNA of porcine SLC35D3, it contains a 1272 bp ORF, encoding a 423 amino acid\npolypeptide, and a 966 bp 3â?? UTR. BLAST results revealed that the amino acid sequence of porcine SLC35D3 had\nthe closest phylogenetic relationship with members of the genus Ovis aries. Further bioinformatics analysis showed\nthat the SLC35D3 protein contains 8 transmembrane domains, and that there is no signal peptide structure. The\nsecondary structure of the protein mainly contains 37.12%.......................
Background: Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement\ndisorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and\nneuromuscular signs. It is caused by mutations in VPS13A gene with autosomal recessive pattern of inheritance.\nCase presentation: Here we report two patients belonging to a consanguineous Moroccan family who present\nwith movement disorder pathology. They were suspected to have choreoacanthocytosis according to biological,\nclinical and radiological finding. Thus, whole-exome sequencing was performed for precise diagnosis and identified\na homozygous novel nonsense mutation c.337C > T (p.Gln113*) in exon 5 of VPS13A in the two affected siblings.\nConclusion: Here, we report a novel nonsense p.Gln113* mutation in VPS13A identified by whole-exome\nsequencing, which caused ChAc in a Moroccan family. This is the first description of ChAc in Morocco with genetic\nconfirmation, that expands the mutation diversity of VPS13A and provide clinical, neuroimaging and deep brain\nstimulation findings....
Objective: DEPDC5 together with NPRL2 and NPRL3 forms the GATOR1 which plays an important role in the the\nmechanistic target of rapamycin (mTOR) pathway. Deregulation of mTOR signalling has been associated to various\nneurological conditions, including epilepsy. Variants in the gene encoding GATOR1 complex, especially in DEPDC5,\nhave been implicated in the pathogensis of several focal epilepsies. While there was little report on the\nelectroencephalogram (EEG) feature of DEPDC5 related epilepsy, we decided to investigate the specific EEG pattern\nand the prognosis of DEPDC5 related epilepsy.\nMethods: The records of 546 epilepsy patients with unknown causes who were admitted in Xijing Hospital and\nunderwent whole exome sequencing (WES) from 2015 to 2019 were retrospectively reviewed. Finally, the clinical\ndata of these 7 patients with DEPDC5 variants were collected in this study. We analyzed their clinical manifestations,\nEEG and magnetic resonance imaging (MRI).\nResults: Seven DEPDC5 variants, including six novel mutations, were identified in seven individuals with focal\nepilepsy. Among these patients, one had family history. Four showed specific interictal EEG patterns, periodic-like\nsharp waves or spike waves, were found in four patients. Five out of seven patients (71.4%) were well-controlled by\nanti-epilepsy drugs while two patients with sleep-related hypermotor epilepsy had either drug resistance or relapse\nof epilepsy.\nConclusion: DEPDC5 variants were related to focal epilepsy in patients with or without family history. The EEG\nabnormalities of DEPDC5 related epilepsy were heterogeneous among different patients, while periodic-like sharp\nwaves or spike waves might be the most characteristic interictal EEG pattern for DEPDC5 related epilepsies. In this\nstudy the prognosis of DEPDC5 related epilepsy was similar to other epilepsies. DEPDC5 variants may not predict\nthe prognosis so far....
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