Epigenetics and human disease
Nature MedicinePublished 1 March 1996
Jean‐Pierre J. Issa, Stephen B. Baylin
Citations38
SJR quartileQ1
SJR score18.33
SNIP8.71
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TL;DR
Altered IGF2 imprinting in somatic overgrowth provides further evidence for the involvement of epigenetics in human disease (pages 311–316).
Abstract
Altered IGF2 imprinting in somatic overgrowth provides further evidence for the involvement of epigenetics in human disease (pages 311–316).
Keywords
Biochemistry, Genetics and Molecular Biology
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Trends in GeneticsRole for DNA methylation in genomic imprinting
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It is demonstrated that a normal level of DNA methylation is required for controlling differential expression of the paternal and maternal alleles of imprinted genes in mutant mice that are deficient in DNA methyltransferase activity.
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In tumors, de novo methylation of the 5' CpG island is a frequent mode of inactivation of CDKN2/p16 and this alteration of p16 in colon cancer was particularly striking, since inactivation does not occur through homozygous deletion in this tumor type.
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CpG island methylation appears in the oestrogen receptor (ER) gene in a subpopulation of cells which increases as a direct function of age in human colonic mucosa, and this same methylation change characterizes virtually all cells in all 45 colorectal tumours examined, including the earliest stages of tumour formation.
NatureRelaxation of imprinted genes in human cancer
794 Citations1993Shirley Rainier, Laura A. Johnson +4 more
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.
Current Opinion in Genetics & DevelopmentEffects of DNA methylation on DNA-binding proteins and gene expression
749 Citations1993Peri Tate, Adrian Bird
Current evidence suggests that both mechanisms can be involved in repression of transcription, and that repression may either result from the direct effects of methylation on transcription factors, or may be indirectly caused by repressor proteins that bind to methylated DNA.
NatureRelaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour
709 Citations1993Osamu Ogawa, Michael R. Eccles +6 more
The IGF2 gene is expressed from the paternal allele in human fetal tissue, but that in Wilms' tumour expression can occur biallelically, providing the first evidence that relaxation of imprinting may play a role in the onset of disease.
NatureTumour-suppressor activity of H19 RNA
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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.
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A subset of patients with Angelman and Prader–Willi syndrome have apparently normal chromosomes of biparental origin, but abnormal DMA methylation at several loci within chromosome 15q11–13, and probably have a defect in imprinting.
ScienceGametic Imprinting in Mammals
438 Citations1995Denise P. Barlow
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.
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The view that IGF2 overexpression plays an important role in somatic overgrowth and the development of embryonal tumours further strengthens the view that the BWS phenotype in some patients involves disruption of IGF2 imprinting.
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It is shown that a mouse homologue of p57KIP2 is genomically imprinted, a region implicated in both sporadic cancers and Beckwith-Wiedemann syndrome, marking it a tumour suppressor candidate.
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It is suggested that the altered pattern of allelic methylation and expression arises in the germline or in the early embryo from defects in resetting or setting of imprinting in maternal germline.
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In 1963 Beckwith' presented the necropsy findings of three unrelated children with exomphalos, macroglossia, hyperplasia of the kidneys and pancreas, and adrenal cytomegaly, and it was suggested that this might represent a new syndrome.
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Advances have led to highly accurate laboratory diagnoses of both carrier and affected individuals as well as markedly improved prenatal diagnosis, and a previously unrecognized class of mutation, later found responsible for several other important genetic diseases, has emerged.
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The developmental regulation of X inactivation and the candidacy of Xist as the X chromosome inactivation centre are discussed, with particular reference to its possible role in the initiation, spread and maintenance ofX inactivation.
PubMedIncreased birth weights of National Wilms' Tumor Study patients suggest a growth factor excess.
63 Citations1994Wendy M. Leisenring, N. E. Breslow +4 more
Patient heights and weights at diagnosis were significantly higher for the subgroups of patients with Beckwith-Wiedemann syndrome or hemihypertrophy, and height was lower for those with aniridia or characteristic genitourinary anomalies, when compared to other patients with Wilms' tumor.