Genome-wide association with footrot in hair and wool sheep
Ovine footrot is an infectious disease with important contributions from Dichelobacter nodosus and Fusobacterium necrophorum. Footrot is characterized by separation of the hoof from underlying tissue, and this causes severe lameness that negatively impacts animal wellbeing, growth, and profitability. Large economic losses result from lost production as well as treatment costs, and improved genetic tools to address footrot are a valuable long-term goal. Prior genetic studies had examined European wool sheep, but hair sheep breeds such as Katahdin and Blackbelly have been reported to have increased resistance to footrot, as ...
Source: Frontiers in Genetics - January 15, 2024 Category: Genetics & Stem Cells Source Type: research

Methylenetetrahydrofolate reductase polymorphic variants C677T and A1298C in rectal cancer in Slavic population: significance for cancer risk and response to chemoradiotherapy
Conclusion: Our data point to MTHFR 667C allele and 1298A alleles as low-penetrance risk factors for rectal cancer in our population. To the best of our knowledge, this is the first study of this type performed on the Slavic population in the Western Balkan, as various population-based factors might also be significant our findings can be used for future meta-analyses and the construction of genetic cancer risk prediction panels. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 15, 2024 Category: Genetics & Stem Cells Source Type: research

Case report: The evolving phenotype of ESCO2 spectrum disorder in a 15-year-old Malaysian child
We describe a 15-year-old Malaysian female who presented with the characteristic triad of ESCO2 spectrum disorder, with an equivocal chromosomal breakage study and normal karyotyping findings. She was initially suspected to have mosaic Fanconi anemia but whole exome sequencing (WES) showed a likely pathogenic homozygous splice variant c.955 + 2_955+5del in the ESCO2 gene. During the 15-year diagnostic odyssey, she developed type 2 diabetes mellitus, primary ovarian insufficiency, increased optic cup-to-disc ratio with tortuous vessels bilaterally, and an evolving but distinct facial and skin hypopigmentation phenotype. Of ...
Source: Frontiers in Genetics - January 15, 2024 Category: Genetics & Stem Cells Source Type: research

Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder
Conclusion: This study confirms the role of SLITRK2 in neuronal development and highlights the importance of including the SLITRK2 gene in the screening of individuals presenting neurodevelopmental disorders. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 12, 2024 Category: Genetics & Stem Cells Source Type: research

Mft1, identified from a genome-wide screen of the yeast haploid mutants, mediates cell cycle arrest to counteract quinoxaline-induced toxicity
Quinoxaline is a heterocyclic compound with a two-membered ring structure that undergoes redox cycling to produce toxic free radicals. It has antiviral, antibacterial, antifungal, and antitumor activities. However, the biological functions that are involved in mounting a response against the toxic effects of quinoxaline have not been investigated. Herein, we performed a genome-wide screen using the yeast haploid mutant collection and reported the identification of 12 mutants that displayed varying sensitivity towards quinoxaline. No mutant was recovered that showed resistance to quinoxaline. The quinoxaline-sensitive mutan...
Source: Frontiers in Genetics - January 12, 2024 Category: Genetics & Stem Cells Source Type: research

Genome-wide survey reveals the genetic background of Xinjiang Brown cattle in China
Conclusion: The results of this study detail the evolutionary process of crossbreeding in Xinjiang Brown cattle and provide guidance for selecting and breeding new strains of this species. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 12, 2024 Category: Genetics & Stem Cells Source Type: research

Machine learning and multi-omics data in chronic lymphocytic leukemia: the future of precision medicine?
Chronic lymphocytic leukemia is a complex and heterogeneous hematological malignancy. The advance of high-throughput multi-omics technologies has significantly influenced chronic lymphocytic leukemia research and paved the way for precision medicine approaches. In this review, we explore the role of machine learning in the analysis of multi-omics data in this hematological malignancy. We discuss recent literature on different machine learning models applied to single omic studies in chronic lymphocytic leukemia, with a special focus on the potential contributions to precision medicine. Finally, we highlight the recently pu...
Source: Frontiers in Genetics - January 12, 2024 Category: Genetics & Stem Cells Source Type: research

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
Conclusion: Our study expands the mutational and phenotypic spectrum of mitochondrial diseases in Tunisia and highlights the importance of next-generation sequencing to decipher the pathomolecular mechanisms responsible for these disorders in an admixed population. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 12, 2024 Category: Genetics & Stem Cells Source Type: research

Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol
Data on the prevalence of most inborn errors of metabolism are still unavailable in Kazakhstan. The study aims to perform selective screening for hereditary metabolic diseases among patients aged from 1 day to 18 years in western Kazakhstan using the LC-MS/MS method, with establishing the reference values for the content of amino acids, acylcarnitines, and succinylacetone in blood samples of healthy children. Tasks: 1. To assess the burden of metabolic disorders detected by LC-MS/MS in western Kazakhstan by examination of children at clinical risk in pediatric clinics throughout the region; https://www.frontiersin.org/re...
Source: Frontiers in Genetics - January 12, 2024 Category: Genetics & Stem Cells Source Type: research

Bibliometric and visual analysis of single-cell sequencing from 2010 to 2022
Conclusion: This study utilized bibliometric techniques to visualize research in SCS-related domains, which facilitated the identification of emerging patterns and future directions in the field. Current hot topics in SCS research include COVID-19, tumor microenvironment, scRNA-seq, and neuroscience. Our results are significant for scholars seeking to identify key issues and generate new research ideas. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research

Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family
Conclusion: Our research uncovered a relationship between mutations in the MYO6 gene and non-syndromic hearing loss. We identified two variants, c.[2377T>G; 2382G>T] p.[Trp793Gly; Lys794Asn] in MYO6 as strong candidates responsible for the observed progressive hereditary hearing loss. This study not only adds to our knowledge about hearing problems related to MYO6 but also reveals the presence of monogenic compound heterozygosity. Our study will provide a new sight for genetic diagnosis in such patients and their management for future use. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research

Diversity of antibiotic resistance gene variants at subsequent stages of the wastewater treatment process revealed by a metagenomic analysis of PCR amplicons
In this study we applied next-generation sequencing for a metagenomic analysis of PCR amplicons of ARGs from the subsequent stages of the analysed WWTP. The presence of 14 genes conferring resistance to different antibiotic families was screened by PCR. In the next step, three genes were selected for detailed analysis of changes of the profile of ARG variants along the process. A relative abundance of 79 variants was analysed. The highest diversity was revealed in the ermF gene, with 52 variants. The relative abundance of some variants changed along the purification process, and some ARG variants might be present in novel ...
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research

Genetically predicted circulating levels of cytokines and the risk of oral cavity and pharyngeal cancer: a bidirectional mendelian-randomization study
Conclusion: Our study systematically assessed the association between inflammatory cytokines and the risk of OCPC. We identified two upstream regulatory factors (IL-7 and CCL3) and one downstream effector factor (IL-4) that were associated with OCPC, offering potential avenues for the development of novel treatments. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research

Hereditary deafness carrier screening in 9,993 Chinese individuals
Conclusion: These findings confirmed the clinical utility of preconception or prenatal carrier screening for hereditary deafness. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research

Empirical validation of ProteinMPNN ’s efficiency in enhancing protein fitness
Discussion: Our research indicates that using large-scale pre trained models to design protein mutants provides a new approach for protein engineering, providing strong support for guiding biological experiments and applications in biotechnology. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 11, 2024 Category: Genetics & Stem Cells Source Type: research