Genomic imprinting and parent-of-origin effects on complex traits

Nat Rev Genet. 2013 Sep;14(9):609-17. doi: 10.1038/nrg3543. Epub 2013 Aug 6.


Parent-of-origin effects occur when the phenotypic effect of an allele depends on whether it is inherited from the mother or the father. Several phenomena can cause parent-of-origin effects, but the best characterized is parent-of-origin-dependent gene expression associated with genomic imprinting. The development of new mapping approaches applied to the growing abundance of genomic data has demonstrated that imprinted genes can be important contributors to complex trait variation. Therefore, to understand the genetic architecture and evolution of complex traits, including complex diseases and traits of agricultural importance, it is crucial to account for these parent-of-origin effects. Here, we discuss patterns of phenotypic variation associated with imprinting, evidence supporting its role in complex trait variation and approaches for identifying its molecular signatures.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alleles
  • Epistasis, Genetic
  • Genomic Imprinting*
  • Humans
  • Models, Genetic
  • Multifactorial Inheritance*
  • Phenotype
  • Quantitative Trait Loci
  • Quantitative Trait, Heritable*