Abstract
In this chapter, Mendelian disorders of the epigenetic machinery in developmental disorders are discussed. Metabolic factors important in epigenetic modifications are presented. Phenotypic manifestations of specific developmental defects due to defects in functions of epigenetic writers, readers, erasers, and chromatin remodelers are documented. Posttranslation nucleotide modifications that act as regulatory modifiers are discussed. Details of cohesin functions and information on disorders that result from cohesin defects are presented. Information derived from the Reference Epigenome project undertaken by the NIH Roadmap Epigenomic Consortium is presented. A section of this chapter is devoted to a discussion of genomic imprinting and imprinting disorders. In later sections of the chapter, the roles of epigenetics in learning and memory and epigenetic changes in certain neurological diseases including facioscapulohumeral muscular dystrophy, myotonic dystrophy and neurological conditions that result from trinucleotide repeat expansions are discussed. A section of the chapter details information relevant to epigenetic changes associated with specific forms of cancer, including esophageal cancer, stomach cancer, and colon cancer. Also discussed are aspects of stem cell epigenetics and epigenetic variations in populations. Newer concepts including episignatures and episigns are presented that relate to the finding of patterns of epigenetic changes across the genome in certain conditions.
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