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Bitte verwenden Sie diesen Link, wenn Sie dieses Dokument zitieren oder verlinken wollen: https://nbn-resolving.org/urn:nbn:de:gbv:9-opus-31484

Methylation and Expression Analyses of the 7q Autism Susceptibility Locus Genes MEST, COPG2, and TSGA14 in Human and Anthropoid Primate Cortices

  • The autism susceptibility locus on human chromosome 7q32 contains the maternally imprinted MEST and the non-imprinted COPG2 and TSGA14 genes. Autism is a disorder of the ‘social brain’ that has been proposed to be due to an overbalance of paternally expressed genes. To study regulation of the 7q32 locus during anthropoid primate evolution, we analyzed the methylation and expression patterns of MEST, COPG2, and TSGA14 in human, chimpanzee, Old World monkey (baboon and rhesus macaque), and New World monkey (marmoset) cortices. In all human and anthropoid primate cortices, the MEST promoter was hemimethylated, as expected for a differentially methylated imprinting control region, whereas the COPG2 and TSGA14 promoters were completely demethylated, typical for transcriptionally active non-imprinted genes. The MEST gene also showed comparable mRNA expression levels in all analyzed species. In contrast, COPG2 expression was downregulated in the human cortex compared to chimpanzee, Old and New World monkeys. TSGA14 either showed no differential regulation in the human brain compared to chimpanzee and marmoset or a slight upregulation compared to baboon. The human-specific downregulation supports a role for COPG2 in the development of a ‘social brain’. Promoter methylation patterns appear to be more stable during evolution than gene expression patterns, suggesting that other mechanisms may be more important for inter-primate differences in gene expression.

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Author: E. Schneider, S. Mayer, N. El Hajj, L.R. Jensen, A.W. Kuss, H. Zischler, I. Kondova, R.E. Bontrop, B. Navarro, E. Fuchs, U. Zechner, T. Haaf
URN:urn:nbn:de:gbv:9-opus-31484
DOI:https://doi.org/10.1159/000337298
ISSN:1424-8581
ISSN:1424-859X
Pubmed Id:https://pubmed.ncbi.nlm.nih.gov/22456293
Parent Title (English):Cytogenetic and Genome Research
Publisher:S. Karger AG
Place of publication:Basel, Switzerland
Document Type:Article
Language:English
Date of first Publication:2012/03/24
Release Date:2020/09/29
Tag:Autism spectrum disorder; Brain evolution; Communication abilities; Gene expression; Imprinting; Primate evolution; Promoter methylation; Social brain
GND Keyword:-
Volume:136
Issue:4
First Page:278
Last Page:287
Faculties:Universitätsmedizin / Interfakultäres Institut für Genetik und Funktionelle Genomforschung (UMG)
Licence (German):License LogoCreative Commons - Namensnennung-Nicht kommerziell-Keine Bearbeitung
Licence (German):License LogoCreative Commons - Namensnennung