CpG Islands

Publication Title: 
PLoS genetics

Age-related changes in DNA methylation have been implicated in cellular senescence and longevity, yet the causes and functional consequences of these variants remain unclear. To elucidate the role of age-related epigenetic changes in healthy ageing and potential longevity, we tested for association between whole-blood DNA methylation patterns in 172 female twins aged 32 to 80 with age and age-related phenotypes.

Author(s): 
Bell, Jordana T.
Tsai, Pei-Chien
Yang, Tsun-Po
Pidsley, Ruth
Nisbet, James
Glass, Daniel
Mangino, Massimo
Zhai, Guangju
Zhang, Feng
Valdes, Ana
Shin, So-Youn
Dempster, Emma L.
Murray, Robin M.
Grundberg, Elin
Hedman, Asa K.
Nica, Alexandra
Small, Kerrin S.
MuTHER Consortium
Dermitzakis, Emmanouil T.
McCarthy, Mark I.
Mill, Jonathan
Spector, Tim D.
Deloukas, Panos
Publication Title: 
Journal of Neurochemistry

Increased expression of 5-lipoxygenase is associated with various neuropathologies and may be related to epigenetic gene regulation. DNA methylation in promoter regions is typically associated with gene silencing. We found that human NT2 cells, which differentiate into neuron-like NT2-N cells, express 5-lipoxygenase and we investigated the relationship between 5-lipoxygenase expression and the methylation state of the 5-lipoxygenase core promoter.

Author(s): 
Zhang, Zhijing
Chen, Chang-qing
Manev, Hari
Publication Title: 
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics

Fine-tuning of neuronal connections during development is regulated through environmental interactions. Some fine-tuning occurs through changes in gene expression and/or epigenetic gene-specific DNA methylation states. DNA methylation occurs by transfer of a methyl group from S-adenosyl methionine to cytosine residues in the dinucleotide sequence CpG. Although CpG sequences spread throughout the genome are usually heavily methylated, those occurring in CpG islands in the promoter regions of genes are less methylated.

Author(s): 
Abdolmaleky, Hamid Mostafavi
Smith, Cassandra L.
Faraone, Stephen V.
Shafa, Rahim
Stone, William
Glatt, Stephen J.
Tsuang, Ming T.
Publication Title: 
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics

DNA methylation changes could provide a mechanism for DNA plasticity and dynamism for short-term adaptation, enabling a type of cell memory to register cellular history under different environmental conditions. Some environmental insults may also result in pathological methylation with corresponding alteration of gene expression patterns.

Author(s): 
Abdolmaleky, Hamid Mostafavi
Cheng, Kuang-hung
Russo, Andrea
Smith, Cassandra L.
Faraone, Stephen V.
Wilcox, Marsha
Shafa, Rahim
Glatt, Stephen J.
Nguyen, Giang
Ponte, Joe F.
Thiagalingam, Sam
Tsuang, Ming T.
Publication Title: 
Molecular Psychiatry

Genetic studies implicating the region of human chromosome 18p11.2 in susceptibility to bipolar disorder and schizophrenia have observed parent-of-origin effects that may be explained by genomic imprinting. We have identified a transcriptional variant of the GNAL gene in this region, employing an alternative first exon that is 5' to the originally identified start site. This alternative GNAL transcript encodes a longer functional variant of the stimulatory G-protein alpha subunit, Golf.

Author(s): 
Corradi, J. P.
Ravyn, V.
Robbins, A. K.
Hagan, K. W.
Peters, M. F.
Bostwick, R.
Buono, R. J.
Berrettini, W. H.
Furlong, S. T.
Publication Title: 
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics

Monozygotic (MZ) twin concordance for a range of psychiatric conditions is rarely 100%. It has been suggested that epigenetic factors, such as DNA methylation, may account for a proportion of the variation in behavioral traits observed between these genetically identical individuals. In this study we have quantitatively assessed the methylation status of two CpG sites in the promoter region of the COMT gene in 12 MZ twins-pairs discordant for birth weight, but otherwise clinically unaffected. DNA was obtained at age 5-years using buccal swabs, and modified using sodium-bisulfite treatment.

Author(s): 
Mill, Jonathan
Dempster, Emma
Caspi, Avshalom
Williams, Benjamin
Moffitt, Terrie
Craig, Ian
Publication Title: 
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics

The serotonin reuptake transporter (5HTT) is thought to be the principal regulator of serotonergic activity and epigenetic effects at this locus are thought to be important moderators of vulnerability to neuropsychiatric illness. In attempt to understand the basis of this regulation, several gene polymorphisms that affect 5HTT mRNA levels have been described. But to date, no clear mechanism linking these polymorphisms to vulnerability to epigenetic effects have been described.

Author(s): 
Philibert, Robert
Madan, Anup
Andersen, Allan
Cadoret, Remi
Packer, Hans
Sandhu, Harinder
Publication Title: 
Glia

Glutamate is the major excitatory neurotransmitter in the CNS that is cleared from the extracellular space by a family of high-affinity glutamate transporters. The astroglial glutamate transporter EAAT2 is thought to carry out the uptake of the vast quantity of glutamate, and dysregulation of EAAT2 expression is involved in the pathogenesis of neurological disorders with marked excitotoxic components. Here, we present a novel epigenetic mechanism by which the human EAAT2 gene is kept in a silent state. Sequence inspection identified a classical CpG island at the EAAT2 promoter.

Author(s): 
Zschocke, J¸rgen
Allritz, Claudia
Engele, J¸rgen
Rein, Theo
Publication Title: 
The Australian and New Zealand Journal of Psychiatry

The purpose of this paper was to selectively review the literature on the role of epigenetics in mental illnesses. Aberrant epigenetic regulation has been clearly implicated in the aetiology of some human illnesses. In recent years a growing body of evidence has highlighted the possibility that epigenetics may also play a key role in the origins and expression of mental disorders. Epigenetic phenomena may help explain some of the complexity of mental illnesses and provide a basis for discovering novel pharmacological targets to treat these disorders.

Author(s): 
Stuffrein-Roberts, Selma
Joyce, Peter R.
Kennedy, Martin A.
Publication Title: 
Neuroscience Letters

Disturbance of circadian gene regulation might contribute to behavioral and psychological symptoms in dementia patients. This study was to evaluate the CpG island methylation status on the circadian gene promoters in dementia patients.

Author(s): 
Liu, Hsing-Cheng
Hu, Chaur-Jong
Tang, Yun-Chin
Chang, Jan-Gowth

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