Epigenetics and Disease Concepts PDF

BI2332: Concepts of Disease Epigenetics and underlying principles Professor Ros John  What is Epigenetics? Epigenetic mechanisms Epigenetics and human disease Reading list for Concepts in Disease: Epigenetics Books (as recommended for all lectures)...

BI2332: Concepts of Disease Epigenetics and underlying principles Professor Ros John  What is Epigenetics? Epigenetic mechanisms Epigenetics and human disease Reading list for Concepts in Disease: Epigenetics Books (as recommended for all lectures) Title: Molecular Cell Biology Author: Harvey Lodish author. ISBN: 9781319383602 Title: Genetics and Genomics in Medicine 2e Author: Tom Strachan, Anneke Lucassen ISBN: 9781000579376 Reviews 1. John and Rougeulle. Developmental Epigenetics: Phenotype and the Flexible Epigenome. Front Cell Dev Biol. 2018 Oct 11;6:130. 2. John, R.M., Lefebvre, L., Surani, M.A. (2022). Genomic Imprinting: A Paradigm for Epigenetics of Human Diseases. In: Michels, K.B. (eds) Epigenetic Epidemiology. Springer, Cham. https://doi.org/10.1007/978-3-030-94475-9_8 Human Epigenetics lecture 1 What is Epigenetics?  In 1940s Waddington was trying to understand how, given that all cells have the same genetic code, they’re able to become different tissues in the body. “the branch of biology which studies the causal interactions between genes and their products which bring the phenotype into being” working in the Epigenetic pre-DNA age landscape Conrad Waddington’s definition in 1957  Broadest definition Epigenetics is anything other than DNA sequence that influences the development of an organism Yawn - Apple Emojis, HD Png Download , Transparent Png Image - PNGitem  Common but incorrect definition Epigenetics is the study of how your behaviours and environment can cause changes that affect the way your genes work. Epigenetic markers are responsive to the environment – which is really exciting and important – but epigenetics is far more fundamental and far more exciting.  Correct definition: “Epigenetics is the the study of mitotically and/or meiotically heritable changes in gene function that do not entail a change in DNA sequence” Cell differentiation Early human preimplantation development in vitro There are >200 major cells types but each cell is genetically identical (except germ cells, white blood cells)  Cloning (dedifferentiation and redifferentiation) 1996: Keith Campbell and Ian Wilmut https://www.researchgate.net/post/How_Dolly_Sheep_was_cloned These mice are genetically identical These cats are genetically identical  Silver Russell Syndrome These twins are genetically identical  Genetically identical but phenotypically distinguishable i.e. cannot be distinguished by traditional DNA sequencing  Epigenetic diseases A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence (genome) An epigenetic disorder is a disease caused in whole or in part by a change in epigenetic marks (epigenome)  Epigenetic modifications Marks that can be added/removed from DNA Epigenetic modifications control how and when genes are transcribed. Epigenetic modifications are inherited when cells divide. Some epigenetic modifications are passed on to next generation Inherited through mitotic cell division Epigenetic changes Epigenetic changes Epigenetic changes Each cell type has a unique epigenetic signature From conception into adulthood Inherited through meiotic cell division From one generation into the next (transgenerational)  Transgenerational epigenetic inheritance Non-DNA sequence-based epigenetic information can be inherited across several generations Unlike DNA sequence, epigenetic marks respond to environment Epigenetics and cannabis use Results from the EWAS meta-analysis for lifetime cannabis use with Model 2 adjusted for cigarette smoking  Epigenetics and maternal smoking Am J Hum Genet, 98 (2016), pp. 680-696 Meta-analysis of the Association between Sustained Maternal Smoking during Pregnancy and DNA Methylation in Newborn Cord Blood Epigenetics and maternal depression  Epigenetics and paternal smoking Boys who smoke in their early teens risk passing on harmful epigenetic traits to future children Father’s pubertal smoking starting before age 15.  Epigenetics and climate change Retrospective pregnancy cohort study assessing epigenetic impact of a 2008–2009 severe drought event on a pastoralist community (Samburu) in northern Kenya Observation: lower body weight and higher adiposity in children exposed to the severe drought in utero compared to their same-sex siblings 16 CpG sites were differentially methylated between exposed and unexposed children Epigenetics and human disease Genetic disorders influenced by X-inactivation Fragile X syndrome Imprinting disorders Friedreich's ataxia Cancer Aging Schizophrenia Obesity  https://geneticsunzipped.com/ This is me taking about our research at Cardiff