The genotype and epigenotype synergize to diversify the spatial pattern of expression of the imprinted H19 gene.
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.
Lin
W L
WL
Department of Animal Development and Genetics, Uppsala University, Norbyvagen 18A, S-752 36, Uppsala, Sweden.
He
X B
XB
Svensson
K
K
Adam
G
G
Li
Y M
YM
Tang
T W
TW
Paldi
A
A
Pfeifer
S
S
Ohlsson
R
R
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
C094335:H19 long non-coding RNA; D009124:Muscle Proteins; D015345:Oligonucleotide Probes; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D012313:RNA; D004247:DNA