The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility

2.50
Hdl Handle:
http://hdl.handle.net/10547/296167
Title:
The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility
Authors:
Skaar, David A.; Li, Yue; Bernal, Autumn J.; Hoyo, Cathrine ( 0000-0002-2466-8617 ) ; Murphy, Susan K. ( 0000-0001-8298-7272 ) ; Jirtle, Randy L. ( 0000-0003-1767-045X )
Abstract:
Imprinted genes form a special subset of the genome, exhibiting monoallelic expression in a parent-of-origin-dependent fashion. This monoallelic expression is controlled by parental-specific epigenetic marks, which are established in gametogenesis and early embryonic development and are persistent in all somatic cells throughout life. We define this specific set of cis-acting epigenetic regulatory elements as the imprintome, a distinct and specially tasked subset of the epigenome. Imprintome elements contain DNA methylation and histone modifications that regulate monoallelic expression by affecting promoter accessibility, chromatin structure, and chromatin configuration. Understanding their regulation is critical because a significant proportion of human imprinted genes are implicated in complex diseases. Significant species variation in the repertoire of imprinted genes and their epigenetic regulation, however, will not allow model organisms solely to be used for this crucial purpose. Ultimately, only the human will suffice to accurately define the human imprintome.
Citation:
Skaar, D.A., Li, Y., Bernal, A.J. et al. (2012) 'The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility', ILAR journal, 53(3-4), pp.341-358
Publisher:
National Academy of Sciences
Journal:
ILAR journal
Issue Date:
Dec-2012
URI:
http://hdl.handle.net/10547/296167
DOI:
10.1093/ilar.53.3-4.341
PubMed ID:
23744971
Additional Links:
http://www.ncbi.nlm.nih.gov/pubmed/23744971
Type:
Article
Language:
en
ISSN:
1930-6180
Appears in Collections:
Muscle Cellular and Molecular Physiology

Full metadata record

DC FieldValue Language
dc.contributor.authorSkaar, David A.en_GB
dc.contributor.authorLi, Yueen_GB
dc.contributor.authorBernal, Autumn J.en_GB
dc.contributor.authorHoyo, Cathrineen_GB
dc.contributor.authorMurphy, Susan K.en_GB
dc.contributor.authorJirtle, Randy L.en_GB
dc.date.accessioned2013-07-16T10:16:50Z-
dc.date.available2013-07-16T10:16:50Z-
dc.date.issued2012-12-
dc.identifier.citationSkaar, D.A., Li, Y., Bernal, A.J. et al. (2012) 'The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility', ILAR journal, 53(3-4), pp.341-358en_GB
dc.identifier.issn1930-6180-
dc.identifier.pmid23744971-
dc.identifier.doi10.1093/ilar.53.3-4.341-
dc.identifier.urihttp://hdl.handle.net/10547/296167-
dc.description.abstractImprinted genes form a special subset of the genome, exhibiting monoallelic expression in a parent-of-origin-dependent fashion. This monoallelic expression is controlled by parental-specific epigenetic marks, which are established in gametogenesis and early embryonic development and are persistent in all somatic cells throughout life. We define this specific set of cis-acting epigenetic regulatory elements as the imprintome, a distinct and specially tasked subset of the epigenome. Imprintome elements contain DNA methylation and histone modifications that regulate monoallelic expression by affecting promoter accessibility, chromatin structure, and chromatin configuration. Understanding their regulation is critical because a significant proportion of human imprinted genes are implicated in complex diseases. Significant species variation in the repertoire of imprinted genes and their epigenetic regulation, however, will not allow model organisms solely to be used for this crucial purpose. Ultimately, only the human will suffice to accurately define the human imprintome.en_GB
dc.language.isoenen
dc.publisherNational Academy of Sciencesen_GB
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/23744971en_GB
dc.rightsArchived with thanks to ILAR journal / National Research Council, Institute of Laboratory Animal Resourcesen_GB
dc.subjectdifferential methylationen_GB
dc.subjecthistone modificationen_GB
dc.subjectimprinted geneen_GB
dc.titleThe human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibilityen
dc.typeArticleen
dc.identifier.journalILAR journalen_GB

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