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Title: Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios
Author: Galvan Femenia, Ivan
Díez Villanueva, Anna
Martín, Berta
Moratalla Navarro, Ferran
Morón-Duran, Francisco D
Obón Santacana, Mireia
Carreras, Anna
Cid, Rafael de
Peinado Morales, Miguel Á. (Miguel Ángel)
Moreno Aguado, Víctor
Keywords: Epigènesi
Genoma humà
Human genome
Issue Date: 2-Dec-2023
Publisher: Nature Publishing Group
Abstract: Genome-wide association studies have identified thousands of loci associated with common diseases and traits. However, a large fraction of heritability remains unexplained. Epigenetic modifications, such as the observed in DNA methylation have been proposed as a mechanism of intergenerational inheritance. To investigate the potential contribution of DNA methylation to the missing heritability, we analysed the methylomes of four healthy trios (two parents and one offspring) using whole genome bisulphite sequencing. Of the 1.5 million CpGs (19%) with over 20% variability between parents in at least one family and compatible with a Mendelian inheritance pattern, only 3488 CpGs (0.2%) lacked correlation with any SNP in the genome, marking them as potential sites for intergenerational epigenetic inheritance. These markers were distributed genome-wide, with some preference to be located in promoters. They displayed a bimodal distribution, being either fully methylated or unmethylated, and were often found at the boundaries of genomic regions with high/low GC content. This analysis provides a starting point for future investigations into the missing heritability of simple and complex traits.
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It is part of: Scientific Reports, 2023, vol. 13, num.1
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ISSN: 2045-2322
Appears in Collections:Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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