Abstract
Genomic imprinting in mammals was discovered over 30 years ago through elegant embryological and genetic experiments in mice. Imprinted genes show a monoallelic and parent of origin–specific expression pattern; the development of techniques that can distinguish between expression from maternal and paternal chromosomes in mice, combined with high-throughput strategies, has allowed for identification of many more imprinted genes, most of which are conserved in humans. Undoubtedly, technical progress has greatly promoted progress in the field of genomic imprinting. Here, we summarize the techniques used to discover imprinted genes, identify new imprinted genes, define imprinting regulation mechanisms, and study imprinting functions.
Highlights
Genomic imprinting in mammals was discovered over 30 years ago through elegant embryological and genetic experiments in mice
Emergent techniques in mouse genetics enabled researchers to distinguish between expression from maternal and paternal chromosomes, and the first three imprinted genes—insulin-like growth factor 2 receptor (Igf2r) [12], insulin-like growth factor 2 (Igf2) [13, 14], and H19 [15]—were identified in 1991
Haploid embryonic stem cells with a single set of chromosomes from sperm efficiently support the generation of mice after injection into oocytes [19]
Summary
Genomic imprinting in mammals was discovered over 30 years ago through elegant embryological and genetic experiments in mice. Emergent techniques in mouse genetics (positional cloning, gene knockout, and allele-specific activity in hybrids) enabled researchers to distinguish between expression from maternal and paternal chromosomes, and the first three imprinted genes—insulin-like growth factor 2 receptor (Igf2r) [12], insulin-like growth factor 2 (Igf2) [13, 14], and H19 (a noncoding RNA) [15]—were identified in 1991.
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