Shiga toxin-producing (STEC) O157:H7 strains with the T allele in the translocated intimin receptor polymorphism () 255 A > T gene associate with human disease more than strains with an A allele; however, the allele is not thought to be the direct cause of this difference. We sequenced a diverse set of STEC O157:H7 strains (26% A allele, 74% T allele) to identify linked differences that might underlie disease association. The average chromosome and pO157 plasmid size and gene content were significantly greater within the 255 A allele strains. Eighteen coding sequences were unique to 255 A allele chromosomes, and three were unique to 255 T allele chromosomes. There also were non-pO157 plasmids that were unique to each 255 allele variant. The overall average number of prophages did not differ between 255 allele strains; however, there were different types between the strains. Genomic and mobile element variation linked to the 255 polymorphism may account for the increased frequency of the T allele isolates in human disease.
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http://dx.doi.org/10.3389/fmicb.2023.1303387 | DOI Listing |
Eur J Hum Genet
December 2024
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is essential for skeletal muscle development, yet its mechanisms remain poorly understood. This study presents the clinical and molecular details of the third and fourth reported patients with biallelic variants in MYMX, the gene that encodes Myomixer. We identified a homozygous truncating variant [c.
View Article and Find Full Text PDFForensic Sci Med Pathol
November 2024
Forensic Science Laboratory, Directorate of Forensic Science, General Directorate of Criminal Investigation and Forensic Science, Ministry of Interior, Manama, Kingdom of Bahrain.
The selection of an appropriate STR allelic frequency database is the prerequisite for assessing the evidentiary value of DNA evidence. Four data sets comprising 50, 100, 200, and 500 samples were evaluated in 21 autosomal STR markers in the Indian and the Bahrain population. Allelic richness showed an increasing trend with the increase in sample size i.
View Article and Find Full Text PDFComput Biol Med
December 2024
College of Pharmacy, Sunchon National University, 255 Jungang-ro, 57922, Suncheon-si, Jeollanam-do, Republic of Korea; College of Pharmacy and Research Institute of Life and Pharmaceutical Sciences, Sunchon National University, 57922, Suncheon-Si, Republic of Korea. Electronic address:
BMC Med Genomics
October 2024
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-region. KIV-2 is highly polymorphic in the population and accurate analysis is challenging.
View Article and Find Full Text PDFTheor Appl Genet
October 2024
Department of Plant Pathology, Washington State University, Pullman, WA, 99164-6430, USA.
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