title: The genotype and epigenotype synergize to diversify the spatial pattern of expression of the imprinted H19 gene.
abstract: Little is known of how the genetic background effects the phenomenon of genomic imprinting. The H19 gene belongs to a cluster of imprinted genes on human chromosome 11. Here we show that the alternative splicing of a human H19 transcript is genotype-specific. Moreover, this variant transcript, which lacks exon 4, is either not found at all, is widely expressed or is confined to extra-villous cytotrophoblasts in first trimester placenta, depending on a combination of the genotype and the sex of the transmitting parent.
authors.affiliation: Department of Animal Development and Genetics, Uppsala University, Norbyvagen 18A, S-752 36, Uppsala, Sweden.
authors.forename: W L
authors.initials: WL
authors.lastname: Lin
authors.forename: X B
authors.initials: XB
authors.lastname: He
authors.forename: K
authors.initials: K
authors.lastname: Svensson
authors.forename: G
authors.initials: G
authors.lastname: Adam
authors.forename: Y M
authors.initials: YM
authors.lastname: Li
authors.forename: T W
authors.initials: TW
authors.lastname: Tang
authors.forename: A
authors.initials: A
authors.lastname: Paldi
authors.forename: S
authors.initials: S
authors.lastname: Pfeifer
authors.forename: R
authors.initials: R
authors.lastname: Ohlsson
mesh_terms: D000483:Alleles; D017398:Alternative Splicing; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D018507:Gene Expression Regulation, Developmental; D016147:Genes, Tumor Suppressor; D018392:Genomic Imprinting; D005838:Genotype; D006801:Humans; D017403:In Situ Hybridization; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D015345:Oligonucleotide Probes / Q000235:genetics; D011247:Pregnancy; D012313:RNA / Q000235:genetics / Q000378:metabolism; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D014327:Trophoblasts / Q000378:metabolism
chemical_list: C094335:H19 long non-coding RNA; D009124:Muscle Proteins; D015345:Oligonucleotide Probes; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D012313:RNA; D004247:DNA