Rehan Arshad’s Post

Tracing genetic diversity captures the molecular basis of misfolding disease https://lnkd.in/dKwi5NYC

📃Scientific paper: Variation in haplotypes in single cysts of assemblages C and D, but not of assemblage E of Giardia duodenalis Abstract: Background Giardia duodenalis, a single-celled intestinal parasite, is divided into eight assemblages (A-H), with differences in host specificity. Giardia duodenalis reproduces asexually and cycles between the binucleated trophozoite (4 N) and the infectious cyst with four nuclei (16 N). Interaction between the nuclei is limited. Therefore, genetic drift causes differences in genetic make-up between the non-daughter nuclei; the allelic sequence heterozygosity (ASH). The ASH is low (0.01%—0.0023%) for the related assemblages A and E, higher (0.43–0.53) for assemblage B and much higher (0.74% -0.89%) for the assemblage C and D at the root of the phylogenetic tree. The heterozygosity in assemblage F, in the same clade as assemblage A and E, was unknown. The heterozygosity in the sequences of the gdh and dis3 genes was used as proxy for the ASH and whole genome amplification of single cysts followed by cloning and Sanger sequencing of dis3 fragment could reveal the genetic variation within the cyst. The aim of the study was to determine the level of heterozygosity within pooled and single cysts of different assemblages. Results The heterozygosity in gdh and dis3 was determined in pooled cysts of the assemblages A to F. Heterozygosity in the isolates of the assemblages C ( n  = 2) and D ( n  = 1) ranged from 0.41% to 0.82% for gdh and dis3 and no heterozygosity was found in the isolates of the assemblages A ( n  = 4), E ( n  = 3) and F ( n  = 3). The heterozygosity in a... Continued on ES/IODE ➡️ https://etcse.fr/uZho1 ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.

Using long-read sequencing, Elizabeth G. Plender and colleagues of the American Journal of Human Genetics' latest article characterize the genetic diversity of mucin genes across human populations and develop genotyping strategies to identify disease associations. 🔗Read the full article here: https://lnkd.in/expivjdQ #ASHG #HumanGenetics

Comprehensive blueprint of Salmonella genomic plasticity identifies hotspots for pathogenicity genes https://lnkd.in/eZFAtt9B

📃Scientific paper: Genome characterisation and comparative analysis of Schaalia dentiphila sp. nov. and its subspecies, S. dentiphila subsp. denticola subsp. nov., from the human oral cavity Abstract: Background Schaalia species are primarily found among the oral microbiota of humans and other animals. They have been associated with various infections through their involvement in biofilm formation, modulation of host responses, and interaction with other microorganisms. In this study, two strains previously indicated as Actinomyces spp. were found to be novel members of the genus Schaalia based on their whole genome sequences. Results Whole-genome sequencing revealed both strains with a genome size of 2.3 Mbp and GC contents of 65.5%. Phylogenetics analysis for taxonomic placement revealed strains NCTC 9931 and C24 as distinct species within the genus Schaalia . Overall genome-relatedness indices including digital DNA-DNA hybridization (dDDH), and average nucleotide/amino acid identity (ANI/AAI) confirmed both strains as distinct species, with values below the species boundary thresholds (dDDH < 70%, and ANI and AAI < 95%) when compared to nearest type strain Schaalia odontolytica NCTC 9935^ T. Pangenome and orthologous analyses highlighted their differences in gene properties and biological functions compared to existing type strains. Additionally, the identification of genomic islands (GIs) and virulence-associated factors indicated their genetic diversity and potential adaptive capabilities, as well as potential implications for human health. Notably, CRISPR-Cas systems in strain NCTC 9931 underscore its adaptive immune mechanisms compared to strain C24. Concl... Continued on ES/IODE ➡️ https://etcse.fr/rbDNe ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.

"In the context of genetic conditions, even minor changes in the genetic code can have profound implications for a child’s development. Our approach, which goes beyond computation to assess the effect of mutations, overcomes this diagnostic challenge to reliably distinguish between harmless and harmful rare genetic changes. We hope to apply this technique to other genes, unlocking essential insights hidden within our genetic code.” Dr Sebastian Gerety - Wellcome Sanger Institute and University of Cambridge https://lnkd.in/g59FBhvy #RareDisease #FunctionalGenomics

Major breakthrough in mapping diseases across ethnicities! The All of Us Research Program unveiled the largest, most diverse dataset of clinical-grade genomes ever assembled. This includes 245,388 genomes from a population 77% underrepresented in genetics research. What it reveals: Over 1 billion genetic variations, including 275 million entirely new! Links between these variations and 117 diseases across ancestries. Impact: Paves the way for more precise medicine for everyone. Accelerates our understanding of complex diseases. Data is available! Public summaries and secure access for researchers (median access in 29 hours). #DiversityInScience #Genomics #AllofUs

Comprehensive blueprint of Salmonella genomic plasticity identifies hotspots for pathogenicity genes https://lnkd.in/eVUuyHH2

Fresh perspectives on genetics of ageing and diseases. Points to note- Genetic factors that delay aging respond to interventions like Caloric restriction etc. #Biologicalaging #Agereversal #Aging #Genetics

Genetic determinants of blood pressure and heart rate identified through ENU-induced mutagenesis with automated meiotic mapping SCIENCE ADVANCES https://lnkd.in/gdt6iGXn