title: A sequence variation in the promoter of the placental alkaline phosphatase gene (ALPP) is associated with allele-specific expression in human term placenta.
abstract: Placental alkaline phosphatase (PLAP), encoded by the ALPP gene, is produced by the fetal side of the placenta. This enzyme displays strong genetic variability. Some of the variants were reported to be associated with pathology of pregnancy. We show here that the two most common ALPP allelic variants, Pl(1) and Pl(2), differ in mRNA expression level. This differential expression was independent of the parental origin and probably results from linkage disequilibrium with the sequence variation rs2014683G>A in the ALPP gene promoter that was shown to have allele-specific binding patterns to placental nuclear proteins. The possible role of this allelic-specific expression in placenta-related pathology is discussed.
authors.affiliation: Unité de Pathologie Cellulaire et Génétique, UPRES-EA2493, Faculté de Médecine Paris Ile de France Ouest PRES Universud Paris, Université de Versailles-Saint Quentin en Yvelines, 78035 Versailles, France.
authors.forename: L
authors.initials: L
authors.lastname: Bellazi
authors.forename: S
authors.initials: S
authors.lastname: Germond
authors.forename: C
authors.initials: C
authors.lastname: Dupont
authors.forename: I
authors.initials: I
authors.lastname: Brun-Heath
authors.forename: A
authors.initials: A
authors.lastname: Taillandier
authors.forename: P
authors.initials: P
authors.lastname: De Mazancourt
authors.forename: M N
authors.initials: MN
authors.lastname: Dieudonné
authors.forename: E
authors.initials: E
authors.lastname: Mornet
mesh_terms: D000328:Adult; D000469:Alkaline Phosphatase / Q000235:genetics*; D000483:Alleles; D005260:Female; D006801:Humans; D015810:Linkage Disequilibrium; D010920:Placenta / Q000201:enzymology*; D011247:Pregnancy; D011401:Promoter Regions, Genetic / Q000235:genetics*
chemical_list: D000469:Alkaline Phosphatase