Making unused data resources available for imprinting analyses by using new methods to uncover parent-of-origin effects in human and livestock

Contact: Dr. Inga Blunk

Duration: 2019-2022

Funding: Deutsche Forschungsgemeinschaft, DFG BL 1666/1-1

The inactivation of alleles relative to their parental origin is called genomic imprinting. Imprinting is due to epigenetic mechanisms and its effects belong to the broader class of parent-of-origin effects. Imprinting is involved in the development of diseases and plays important roles in the expression of agriculturally important traits in livestock. In contrast to the vast range of epigenetic studies knowledge on imprinting is still limited. One reason for this deficiency is that the existing methods used for imprinting analyses impose special requirements regarding the structure of the data. Therefore, large amounts of the available data cannot be exploited, such as those collected routinely for disease registry or genetic evaluation purposes. Thus, the ultimate aim of the proposal is to develop new statistical methods based on preliminary research to make these data resources accessible for imprinting analyses. In particular, the focus will be on methods used for imprinting variance component analyses and for imprinted loci mapping experiments. The interdisciplinary application fields will be related to cancer and autoimmune disorders in humans, as well as conformation and reproduction traits in cattle and pigs. Hence, creating new methods to facilitate imprinting analyses using previously unusable data resources may provide novel insights and improve our knowledge of genomic imprinting.