Tobacco smoking is the largest cause of preventable mortality and morbidity in the United States. Many of the pathological consequences of smoking result from mutations, but gene expression can also be modulated by genomic imprinting mediated by DNA methylation-so-called "epigenetic" regulation. Since genomic imprints, unlike gene mutations, can be reversed, it is of great interest what smoking-related imprints mean for smoking-related pathologies in smokers and their children, and the potential for imprint-targeted diagnostics and therapeutics.
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Front Endocrinol (Lausanne)
December 2024
Rare Disease Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.
Objective: To identify the genetic cause underlying the methylation defect in a patient with clinical suspicion of PHP1B/iPPSD3.
Design: Imprinting is an epigenetic mechanism that allows the regulation of gene expression. The locus is one of the loci within the genome that is imprinted.
Epigenetics Chromatin
December 2024
Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
DNA methylation is an essential epigenetic mechanism for regulation of gene expression, through which many physiological (X-chromosome inactivation, genetic imprinting, chromatin structure and miRNA regulation, genome defense, silencing of transposable elements) and pathological processes (cancer and repetitive sequences-associated diseases) are regulated. Nanopore sequencing has emerged as a novel technique that can analyze long strands of DNA (long-read sequencing) without chemically treating the DNA. Interestingly, nanopore sequencing can also extract epigenetic status of the nucleotides (including both 5-Methylcytosine and 5-hydroxyMethylcytosine), and a large variety of bioinformatic tools have been developed for improving its detection properties.
View Article and Find Full Text PDFJ Exp Bot
December 2024
Centre of Plant Structural and Functional Genomics, Institute of Experimental Botany, Czech Acad Sci, Šlechtitelů 31, Olomouc 77900, Czech Republic.
Cytosine (DNA) methylation plays important roles in silencing transposable elements, plant development, genomic imprinting, stress responses, and maintenance of genome stability. To better understand the functions of this epigenetic modification, several tools have been developed to manipulate DNA methylation levels. These include mutants of DNA methylation writers and readers, targeted manipulation of locus-specific methylation, and the use of chemical inhibitors.
View Article and Find Full Text PDFJCI Insight
December 2024
Department of Ophthalmology and Roger and Karalis Johnson Retina Center, University of Washington, Seattle, United States of America.
Background: Current clinical sequencing methods cannot effectively detect DNA methylation and allele-specific variation to provide parent-of-origin information from the proband alone. Parent-of-origin effects can lead to differential disease and the inability to assign this in de novo cases limits prognostication in the majority of affected individuals with retinoblastoma, a hereditary cancer with suspected parent-of-origin effects.
Methods: To directly assign parent-of-origin in retinoblastoma patients, genomic DNA was extracted from blood samples for sequencing using a programmable, targeted single-molecule long-read DNA genomic and epigenomic approach.
Med Sci (Paris)
December 2024
IGMM, Univ Montpellier, CNRS, Montpellier, France.
The memory of cellular identity is crucial for the correct development of an individual and is maintained throughout life by the epigenome. Chromatin marks, such as DNA methylation and histone modifications, ensure the stability of gene expression programmes over time and through cell division. Loss of these marks can lead to severe pathologies, including cancer and developmental syndromes.
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