title: Polymorphic functional imprinting of the human IGF2 gene among individuals, in blood cells, is associated with H19 expression.
abstract: In most non-neoplastic tissues studied to date, IGF2 is expressed only from the paternal allele and H19 is expressed only from the maternal allele. The choroid plexus, the only normal tissue to date where IGF2 is expressed from both parental alleles, does not express H19. We present an additional situation in which biallelic IGF2 expression is associated with the absence of H19 transcription in normal tissue: blood cells. In blood cells, functional IGF2 imprinting was found to be a polymorphic trait among individuals: expression was biallelic in 79 out of 85 individuals, but the remaining 6 expressed a single allele. Only the latter expressed H19. Finally, the familial clustering of functional IGF2 imprinting in blood cells suggests that the trait may be genotype-dependent.
authors.affiliation: Department of Pediatrics, Division of Endocrinology, McGill University, Montreal, Quebec, Canada.
authors.forename: N
authors.initials: N
authors.lastname: Giannoukakis
authors.forename: C
authors.initials: C
authors.lastname: Deal
authors.forename: J
authors.initials: J
authors.lastname: Paquette
authors.forename: A
authors.initials: A
authors.lastname: Kukuvitis
authors.forename: C
authors.initials: C
authors.lastname: Polychronakos
mesh_terms: D000483:Alleles; D001773:Blood Cells / Q000378:metabolism*; D002585:Cesarean Section; D005260:Female; D005312:Fetal Blood; D015870:Gene Expression; D018392:Genomic Imprinting; D006801:Humans; D007335:Insulin-Like Growth Factor II / Q000096:biosynthesis* / Q000235:genetics*; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D010375:Pedigree; D010920:Placenta / Q000378:metabolism*; D011110:Polymorphism, Genetic; D011247:Pregnancy; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D014158:Transcription, Genetic
chemical_list: C094335:H19 long non-coding RNA; D009124:Muscle Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D007335:Insulin-Like Growth Factor II