Mammalian Genome

, Volume 20, Issue 9, pp 681–698

A framework for detecting and characterizing genetic background-dependent imprinting effects

Article

DOI: 10.1007/s00335-009-9209-2

Cite this article as:
Wolf, J.B. & Cheverud, J.M. Mamm Genome (2009) 20: 681. doi:10.1007/s00335-009-9209-2

Abstract

Genomic imprinting, where the effects of alleles depend on their parent-of-origin, can be an important component of the genetic architecture of complex traits. Although there has been a rapidly increasing number of studies of genetic architecture that have examined imprinting effects, none have examined whether imprinting effects depend on genetic background. Such effects are critical for the evolution of genomic imprinting because they allow the imprinting state of a locus to evolve as a function of genetic background. Here we develop a two-locus model of epistasis that includes epistatic interactions involving imprinting effects and apply this model to scan the mouse genome for loci that modulate the imprinting effects of quantitative trait loci (QTL). The inclusion of imprinting leads to nine orthogonal forms of epistasis, five of which do not appear in the usual two-locus decomposition of epistasis. Each form represents a change in the imprinting status of one locus across different classes of genotypes at the other locus. Our genome scan identified two different locus pairs that show complex patterns of epistasis, where the imprinting effect at one locus changes across genetic backgrounds at the other locus. Thus, our model provides a framework for the detection of genetic background-dependent imprinting effects that should provide insights into the background dependence and evolution of genomic imprinting. Our application of the model to a genome scan supports this assertion by identifying pairs of loci that show reciprocal changes in their imprinting status as the background provided by the other locus changes.

Supplementary material

335_2009_9209_MOESM1_ESM.doc (512 kb)
Supplementary material 1 (DOC 511 kb)

Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  1. 1.Faculty of Life SciencesUniversity of ManchesterManchesterUK
  2. 2.Department of Anatomy and NeurobiologyWashington University School of MedicineSt LouisUSA
  3. 3.Department of Biology and BiochemistryUniversity of BathClaverton Down, BathUK