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Epigenetics, Nuclear Organization & Gene FunctionWith implications of epigenetic regulation and genetic architecture for human development and health$
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John C. Lucchesi

Print publication date: 2019

Print ISBN-13: 9780198831204

Published to Oxford Scholarship Online: March 2019

DOI: 10.1093/oso/9780198831204.001.0001

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PRINTED FROM OXFORD SCHOLARSHIP ONLINE (oxford.universitypressscholarship.com). (c) Copyright Oxford University Press, 2021. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in OSO for personal use. date: 13 June 2021

Developmental systems and their dysfunction

Developmental systems and their dysfunction

(p.254) Chapter 22 Developmental systems and their dysfunction
Epigenetics, Nuclear Organization & Gene Function

John C. Lucchesi

Oxford University Press

A specific function performed by the brain is learning—new information is stored as short-term memory by the activation of the transcription factor CREB, and as long-term memory by DNA methylation and demethylation of specific genes. Learning also involves a neuron-specific remodeling complex (BAF) and several micro RNAs (miRNAs) and long non-coding (lncRNAs). Rubinstein–Taybi, Rett or fragile X syndromes, as well as Alzheimer’s, Parkinson’s or Huntington’s diseases, involve epigenetic alterations. Epigenetic misregulation occurs in cardiopathies such as Wolf–Hirschhorn and Kabuki syndromes. The innate immune system consists of cells that can destroy invading bacteria and virus-infected cells, and of circulating proteins that destroy pathogens. The adaptive immune system consists of macrophages and dendritic cells, T lymphocytes and B lymphocytes. Failure to recognize antigens as one’s own leads to autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Cells from RA and SLE patients exhibit changes in histone acetyl transferases, deacetylases and methyl transferases, and in miRNAs. Arginines can be converted to citrulline, and citrullinated proteins are considered as non-self by the immune system. RA is characterized by the presence of autoantibodies against citrullinated peptides.

Keywords:   Learning, memory, DNA methylation, micro RNA, long non-coding RNA, Rubinstein–Taybi, Rett, fragile X, systemic lupus erythematosus, rheumatoid arthritis, citrullinated, autoantibody

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