Genomic imprinting and cancer.
@article{Jirtle1999GenomicIA,
title={Genomic imprinting and cancer.},
author={Randy L. Jirtle},
journal={Experimental cell research},
year={1999},
volume={248 1},
pages={
18-24
}
}Although we inherit two copies of all genes, except those that reside on the sex chromosomes, there is a subset of these genes in which only the paternal or maternal copy is functional. This phenomenon of monoallelic, parent-of-origin expression of genes is termed genomic imprinting. Imprinted genes are normally involved in embryonic growth and behavioral development, but occasionally they also function inappropriately as oncogenes and tumor suppressor genes. The evidence that imprinted genes…
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References
SHOWING 1-10 OF 88 REFERENCES
Genomic imprinting: implications for human disease.
- BiologyThe American journal of pathology
- 1999
Parental imprinting and human disease.
- Biology, MedicineAnnual review of genetics
- 1996
The study of the molecular basis of abnormal imprinting in these disorders will facilitate the identification and characterization of other imprinted human disease loci.
Genomic imprinting in mammals.
- BiologyAnnual review of genetics
- 1997
Although the function of imprinting remains a subject of some debate, the process is thought to have an important role in regulating the rate of fetal growth.
Mosaic and polymorphic imprinting of the WT1 gene in humans
- BiologyNature Genetics
- 1994
Data demonstrate that WT1 can undergo tissue specific imprinting, and because monoallelic expression of WT1 was not found in all placentae examined, WT1 imprinting may be genetically polymorphic within the human population.
Relaxation of imprinted genes in human cancer
- Biology, MedicineNature
- 1993
In contrast, 69% of Wilms' tumours not undergoing loss of heterozygosity at lip showed biallelic expression of one or both genes, suggesting that relaxation or loss of imprinting could represent a new epigenetic mutational mechanism in carcinogenesis.
The imprinting box of the mouse Igf2r gene
- BiologyNature
- 1999
It is proposed that this regulatory system, which has been shown to be involved in the establishment of differential methylation in the Igf2r DMR, represents a critical element in the imprinting process.
Disruption of imprinting caused by deletion of the H19 gene region in mice
- BiologyNature
- 1995
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.
Gametic Imprinting in Mammals
- BiologyScience
- 1995
Gene inactivation experiments have confirmed predictions that imprinted genes regulate embryonic and placental growth and that DNA methylation is part of the imprinting mechanism, but why imprinted hemizygosity is used as a mechanism to regulate the intrauterine growth of mammalian embryos remains elusive.
Tumour-suppressor activity of H19 RNA
- Biology, MedicineNature
- 1993
It is reported here that two embryonal tumour cell lines, RD and G401, showed growth retardation and morphological changes when transfected with an H19 expression construct, and clonogenicity in soft agar and tumorigenicity in nude mice were abrogated in the G401-H19 transfectants.
