SMYD1 is the underlying gene for the AnWj-negative blood group phenotype.

Vered YahalomNir PillarYingying ZhaoShirley ModanMingyan FangLydia YosephiOrna AsherEilat ShinarGershon CelnikerHaike Resnik-WolfYael BrantzHagit HauschnerNurit RosenbergLe ChengNoam Shomron Elon Pras

Published in: European journal of haematology (2018)

We present genetic and statistical evidence that the R320Q substitution in SMYD1 underlies an inherited form of the AnWj-negative blood group phenotype. The mechanism by which the mutation leads to this phenotype remains to be determined.

Keyphrases

genome wide
copy number
gene expression
dna methylation