title: STOX1: Key player in trophoblast dysfunction underlying early onset preeclampsia with growth retardation.
abstract: Currently, only two preeclampsia susceptibility genes (ACVR2A, STOX1) have been identified within confirmed regions with significant genome-wide linkage, although many genetic screens in multiple populations have been performed. In this paper, we focus on the STOX1 gene. The epigenetic status of this gene is discussed explaining the maternal transmission of the STOX1 susceptibility allele observed in preeclamptic families. The known upstream regulation and downstream effector genes of the transcription factor STOX1 are described. Finally, we propose a model in which we combine the cell type-specific and allele-specific effects of STOX1. This includes intrinsic effects (differential CpG island methylation) and extrinsic effects (regulation of effector genes).
authors.affiliation: Department of Clinical Chemistry, VU University Medical Center, de Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. m.vdijk@vumc.nl
authors.forename: Marie
authors.initials: M
authors.lastname: van Dijk
authors.forename: Cees B M
authors.initials: CB
authors.lastname: Oudejans
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics; D000483:Alleles; D002352:Carrier Proteins / Q000235:genetics*; D044127:Epigenesis, Genetic; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006801:Humans; D008957:Models, Genetic; D011225:Pre-Eclampsia / Q000235:genetics* / Q000503:physiopathology; D011247:Pregnancy; D014327:Trophoblasts / Q000502:physiology*
chemical_list: D002352:Carrier Proteins; C500784:STOX1 protein, human; D030301:Activin Receptors, Type II; C425585:activin receptor type II-A