This chapter represents a summary of the findings from the Yersinia enterocolitica strain 8081 whole genome sequence and the associated microarray analysis. Section 1 & 2 provide an introduction to the species and an overview of the general features of the genome. Section 3 identifies important regions within the genome which highlight important differences in gene function that separate the three pathogenic Yersinias. Section 4 describes genomic loci conferring important, species-specific, metabolic and virulence traits. Section 5 details extensive microarray data to provide an overview of species-specific core Y. enterocolitica gene functions and important insights into the intra-species differences between the high, low and non-pathogenic Y. enterocolitica biotypes.
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http://dx.doi.org/10.1007/978-0-387-72124-8_1 | DOI Listing |
Genome Med
January 2025
Otology & Neurotology Group CTS495, Instituto de Investigación Biosanitario, Ibs.GRANADA, Universidad de Granada, 18071, Granada, Spain.
Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.
Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.
Acta Neuropathol Commun
January 2025
Institute of Cancer Research, London, UK.
Histone mutations (H3 K27M, H3 G34R/V) are molecular features defining subtypes of paediatric-type diffuse high-grade gliomas (HGG) (diffuse midline glioma (DMG), H3 K27-altered, diffuse hemispheric glioma (DHG), H3 G34-mutant). The WHO classification recognises in exceptional cases, these mutations co-occur. We report one such case of a 2-year-old female presenting with neurological symptoms; MRI imaging identified a brainstem lesion which was biopsied.
View Article and Find Full Text PDFBMC Res Notes
January 2025
Leibniz Institute for the Analysis of Biodiversity Change, Museum Koenig Bonn, Centre for Molecular Biodiversity Research, Bonn, Germany.
Objective: Fin clipping is the standard DNA sampling technique for whole genome sequencing (WGS) of small fish. The collection of fin clips requires anaesthesia or even euthanisation of the individual. Swabbing may be a less invasive, non-lethal alternative to fin-clipping.
View Article and Find Full Text PDFEpigenetics Chromatin
January 2025
Department of Maternal‑Fetal Biology, National Center for Child Health and Development, Tokyo, 157‑8535, Japan.
Background: DNA methylation plays a crucial role in mammalian development. While methylome changes acquired in the parental genomes are believed to be erased by epigenetic reprogramming, accumulating evidence suggests that methylome changes in sperm caused by environmental factors are involved in the disease phenotypes of the offspring. These findings imply that acquired sperm methylome changes are transferred to the embryo after epigenetic reprogramming.
View Article and Find Full Text PDFBMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
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