Imprinted Genes and Hypothalamic Function



Pulix, Michela and Plagge, Antonius ORCID: 0000-0001-6592-1343
(2020) Imprinted Genes and Hypothalamic Function. In: Masterclass in Neuroendocrinology. Masterclass in Neuroendocrinology, 9 . Springer International Publishing, pp. 265-294. ISBN 9783030400019, 3030400026

[img] Text
Chapter proofread.pdf - Author Accepted Manuscript

Download (1MB) | Preview

Abstract

Genomic imprinting, a specific type of inherited epigenetic regulation, controls a number of genes with important functions in the hypothalamus and its associated neuroendocrinology. Imprinted genes are expressed monoallelically, dependent on the parental origin of the allele, whereby maternally or paternally inherited DNA methylation marks determine gene activity. In this chapter, we provide an overview of imprinted genes with roles in the hypothalamic regulation of whole-body energy homeostasis, neuroendocrine hormone functions and circadian rhythmicity. As an example for imprinted genes that impact on the central regulation of energy balance, we describe the Gnas locus in more detail, since it generates parental allele-specific gene products with antagonistic roles in energy expenditure and sympathetic nervous system activity. Several human neuroendocrine disorders are caused by defects in imprinted genes as described here for Prader-Willi Syndrome and Angelman Syndrome. Furthermore, we outline methodological approaches for the investigation of DNA methylation marks and allelic gene expression, including bisulfite conversion of DNA and pyrosequencing. Recent technological advances to resolve methylation and allelic expression at the single-cell level are introduced.

Item Type: Book Section
Uncontrolled Keywords: Genomic imprinting, hypothalamus, Gnas, energy homeostasis, Prader-Willi-Syndrome, Angelman-Syndrome, DNA methylation, bisulfite conversion of DNA, pyrosequencing,
Depositing User: Symplectic Admin
Date Deposited: 01 Jun 2020 10:37
Last Modified: 15 Mar 2024 07:09
DOI: 10.1007/978-3-030-40002-6_10
Related URLs:
URI: https://livrepository.liverpool.ac.uk/id/eprint/3089227