Escherichia coli occur as either free-living microorganisms, or within the colons of mammals and birds as pathogenic or commensal bacteria. Although the Mexican population of intestinal E. coli maintains high levels of genetic diversity, the exact mechanisms by which this occurs remain unknown. We therefore investigated the role of homologous recombination and point mutation in the genetic diversification and population structure of Mexican strains of E. coli. This was explored using a multi locus sequence typing (MLST) approach in a non-outbreak related, host-wide sample of 128 isolates. Overall, genetic diversification in this sample appears to be driven primarily by homologous recombination, and to a lesser extent, by point mutation. Since genetic diversity is hierarchically organized according to the MLST genealogy, we observed that there is not a homogeneous recombination rate, but that different rates emerge at different clustering levels such as phylogenetic group, lineage and clonal complex (CC). Moreover, we detected clear signature of substructure among the A+B1 phylogenetic group, where the majority of isolates were differentiated into four discrete lineages. Substructure pattern is revealed by the presence of several CCs associated to a particular life style and host as well as to different genetic diversification mechanisms. We propose these findings as an alternative explanation for the maintenance of the clear phylogenetic signal of this species despite the prevalence of homologous recombination. Finally, we corroborate using both phylogenetic and genetic population approaches as an effective mean to establish epidemiological surveillance tailored to the ecological specificities of each geographic region.
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http://dx.doi.org/10.1016/j.meegid.2012.09.003 | DOI Listing |
HGG Adv
January 2025
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Inherited genetics represents an important contributor to risk of esophageal adenocarcinoma (EAC), and its precursor Barrett's esophagus (BE). Genome-wide association studies have identified ∼30 susceptibility variants for BE/EAC, yet genetic interactions remain unexamined. To address challenges in large-scale G×G scans, we combined knowledge-guided filtering and machine learning approaches, focusing on genes with (A) known/plausible links to BE/EAC pathogenesis (n=493) or (B) prior evidence of biological interactions (n=4,196).
View Article and Find Full Text PDFClin Rev Allergy Immunol
January 2025
Postgraduate Program in Biochemistry, Federal University of Espírito Santo (UFES), Vitória, Espírito Santo, Brazil.
Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Evolutionary Anthropology, University of Vienna, Vienna, Austria.
Malaria has been a leading cause of death in human populations for centuries and remains a major public health challenge in African countries, especially affecting children. Among the five Plasmodium species infecting humans, Plasmodium falciparum is the most lethal. Ancient DNA research has provided key insights into the origins, evolution, and virulence of pathogens that affect humans.
View Article and Find Full Text PDFCommun Biol
January 2025
School of Global Health, Chinese Center for Tropical Diseases Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Vibrio vulnificus is a significant zoonotic pathogen that causes severe vibriosis in humans and fish. The lack of a national annual surveillance program in China has hindered understanding of its epidemiological characteristics and genetic diversity. This study characterized 150 V.
View Article and Find Full Text PDFNat Commun
January 2025
State Key Laboratory of Pathogen and Biosecurity, Academy of Military Medical Sciences, Beijing, China.
The relative contributions of mutation rate variation, selection, and recombination in shaping genomic variation in bacterial populations remain poorly understood. Here we analyze 3318 Yersinia pestis genomes, spanning nearly a century and including 2336 newly sequenced strains, to shed light on the patterns of genetic diversity and variation distribution at the population level. We identify 45 genomic regions ("hot regions", HRs) that, although comprising a minor fraction of the genome, are hotbeds of genetic variation.
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