ESPEYB16 14. Year in Science and Medicine 2019 (1) (18 abstracts)
14.16. Insights into imprinting from parent-of-origin phased methylomes and transcriptomes
Zink F , Magnusdottir DN , Magnusson OT , Walker NJ , Morris TJ , Sigurdsson A , Halldorsson GH , Gudjonsson SA , Melsted P , Ingimundardottir H , Kristmundsdottir S , Alexandersson KF , Helgadottir A , Gudmundsson J , Rafnar T , Jonsdottir I , Holm H , Eyjolfsson GI , Sigurdardottir O , Olafsson I , Masson G , Gudbjartsson DF , Thorsteinsdottir U , Halldorsson BV , Stacey SN & Stefansson K
deCODE genetics/AMGEN, Reykjavik, Iceland
To read the full abstract: Nat Genet 2018;50:1542–1552
The authors analyse whole blood samples collected in participants of the Icelandic deCODE genetics studies in order to distinguish maternal genotype versus paternal genotype effects on gene expression and methylation in blood. The results provide a new map of imprinted methylation and gene expression patterns across the human genome with greater resolution and power than previously reported.
Paediatric endocrinologists are familiar with imprinted gene disorders, such Prader-Willi and Angelman syndromes, where exactly the same genetic mutation leads to completely different clinical disorders depending on the parent-of-origin of the mutation. This is due to imprinted genes, which retain an epigenetic memory of which parent they came from and show selective activation on that basis. Relatively few genes are imprinted, possibly ~100/20,000 genes, however it is thought that imprinted genes can also lead to slightly imbalanced gene expression at many other genes through shared gene networks.
As well as providing a highly valuable new reference database of human imprinting in peripheral blood cells, the current study shows that many imprinted genes show ‘polymorphic imprinting’ – where the pattern of imprinting varies considerably between individuals. Notably, the highest variability was seen at VTRNA2-1, where imprinting has been famously reported to vary in response to peri-conceptional nutrition in rural Gambians (1). Variability was also significant at several other sites, including DLK1, IGF2, HTR2A, and IGF2R. Through these and other modifying mechanisms, the authors show how imprinting contributes to the normal continuous variation in human traits rather than binary characteristics.
Reference: 1. Silver MJ, Kessler NJ, Hennig BJ, Dominguez-Salas P, Laritsky E, Baker MS, Coarfa C, Hernandez-Vargas H, Castelino JM, Routledge MN, Gong YY, Herceg Z, Lee YS, Lee K, Moore SE, Fulford AJ, Prentice AM, Waterland RA. Independent genomewide screens identify the tumor suppressor VTRNA2-1 as a human epiallele responsive to periconceptional environment. Genome Biol. 2015 11;16:118.
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more