This study identified a maternal genetic effect that can work together with a maternal epigenetic effect. PHLDA2 is a maternally expressed imprinted gene that affects birth weight in mammals. Ishida et al. identified a PHLDA2 promoter variant that is associated with lower transcriptional activity in a human cohort and showed that mothers who were homozygous for this variant bore the heaviest babies. This effect was larger than that expected from imprinting alone, indicating that PHLDA2 exerts its effects through both maternal effects and imprinting.
ORIGINAL RESEARCH PAPER
Ishida, M. et al. Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight. Am. J. Hum. Genet. 22 Mar 2012 (doi:10.1016/j.ajhg.2012.02.021)
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Burgess, D. Imprinting meets maternal effects for birth weight control. Nat Rev Genet 13, 299 (2012). https://doi.org/10.1038/nrg3238
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DOI: https://doi.org/10.1038/nrg3238
