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
        }
}
  • R. Jirtle
  • Published 10 April 1999
  • Biology
  • Experimental cell research
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… 

Figures from this paper

Epimutations of imprinted genes in the human genome: Classification, causes, association with hereditary pathology
TLDR
The spectrum of epimutations of imprinted genes is considered, their classification is presented, and possible causes of their appearance and their role in etiology of hereditary human diseases are discussed.
Genomic Imprinting in Mammals
TLDR
The mechanisms and effects of genomic imprinting, an epigenetic phenomenon regulating the development in placentate mammals, are presented and the balance of gene activity is established, which is necessary for normal proliferation and differentiation of various cell clones in embryogenesis.
The Y chromosome of Drosophila melanogaster exhibits chromosome-wide imprinting.
TLDR
It is concluded that genomic imprinting affecting gene expression is a general property of the Drosophila Y chromosome and distinguishes the Y from the autosomal complement.
Genomic Imprinting and Problem of Parthenogenesis in Mammals
  • E. Platonov
  • Biology
    Russian Journal of Developmental Biology
  • 2005
TLDR
A review is provided of the studies aimed at search of possible normalization of misbalanced gene activity and modulation of genomic imprinting effects during parthenogenetic development in mammals.
Genomic imprinting in epigenetic of mammals
TLDR
Artificial modulation of genomic imprinting effects with the use of growth factors and demethylating agents permits partial “normocoping” during the development of parthenogenetic mouse embryos.
Epigenetic heterogeneity at imprinted loci in normal populations.
TLDR
The allelic expression pattern of three imprinted genes in a panel of 262 Japanese normal individuals was examined and differences in the extent of maintenance of allele-specific expression of the three genes were observed.
Germline epimutation of MLH1 in individuals with multiple cancers
TLDR
Two individuals with soma-wide, allele-specific and mosaic hypermethylation of the DNA mismatch repair gene MLH1 are reported, with one having had multiple primary tumors that show mismatch repair deficiency and both meeting clinical criteria for hereditary nonpolyposis colorectal cancer.
Imprinted genes and human disease
  • R. Weksberg
  • Biology
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2010
This issue of Seminars of Medical Genetics features a series of articles on human disorders caused by the dysregulation of imprinted genes. At the outset, there is a review of the general mechanisms
Strain-dependent developmental relaxation of imprinting of an endogenous mouse gene, Kvlqt1.
TLDR
Examination of embryonic, neonatal, and postnatal tissues revealed that Kvlqt1 is imprinted in mouse early embryos, in both female 129 x male CS and female CS x male 129 offspring, with preferential expression of the maternal allele, like the human homologue.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 88 REFERENCES
Parental imprinting and human disease.
  • M. Lalande
  • Biology, Medicine
    Annual review of genetics
  • 1996
TLDR
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.
TLDR
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
TLDR
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
TLDR
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
TLDR
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
TLDR
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
TLDR
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
TLDR
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.
...
1
2
3
4
5
...