TitleDisruption of imprinting caused by deletion of the H19 gene region in mice.
Publication TypeJournal Article
Year of Publication1995
AuthorsLeighton, PA, Ingram, RS, Eggenschwiler, J, Efstratiadis, A, Tilghman, SM
JournalNature
Volume375
Issue6526
Pagination34-9
Date Published1995 May 4
KeywordsAnimals, Base Sequence, Body Weight, Crosses, Genetic, DNA, DNA Primers, Female, Gene Deletion, Genomic Imprinting, Heterozygote, Insulin, Insulin-Like Growth Factor II, Male, Methylation, Mice, Mice, Inbred C57BL, Molecular Sequence Data, Regulatory Sequences, Nucleic Acid, RNA, Transcription, Genetic
Abstract

The imprinted H19 gene, which encodes an untranslated RNA, lies at the end of a cluster of imprinted genes in the mouse. Imprinting of the insulin-2 and insulin-like growth factor 2 genes, which lie about 100 kilobases upstream of H19, can be disrupted by maternal inheritance of a targeted deletion of the H19 gene and its flanking sequence. Animals inheriting the H19 mutation from their mothers are 27% heavier than those inheriting it from their fathers. Paternal inheritance of the disruption has no effect, which presumably reflects the normally silent state of the paternal gene. The somatic overgrowth of heterozygotes for the maternal deletion is attributed to a gain of function of insulin-like growth factor 2, rather than a loss of function of H19.

Alternate JournalNature