Imprinting makes its mark

@article{Davies1993ImprintingMI,
  title={Imprinting makes its mark},
  author={Kevin Davies},
  journal={Nature},
  year={1993},
  volume={363},
  pages={94-94}
}
  • K. Davies
  • Published 1 May 1993
  • Biology, Art
  • Nature
Work published over the past month provides insight into the mechanism of genomic imprinting in mice and the possible phenotypic consequences of imprinting in humans. 
8 Citations
Differences Between Human Sperm and Somatic Cell DNA in CpG Methylation Within the HLA Class I Chromosomal Region
TLDR
The possible negative regulatory mechanisms that repress classical human leukocyte antigen (HLA) class I gene expression in human spermatozoa are investigated and novel testis‐specific coding sequences that might be present in the MHC class I chromosomal region are searched for.
Role of DNA methylation in the regulation of cell function.
Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria
TLDR
The chromosomal assignment of Piga, as well as of Pigf and Pigh, two additional genes involved in GPI-anchor biosynthesis, has been established using a mouse interspecific backcross mapping technique, which helps to explain the predominant class A defect in PNH.
Molecular Regulatory Mechanisms That Repress Classical HLA Class I Gene Expression in Human Placenta
TLDR
The human major histocompatibility complex (MHC) class I genomic region, located on the short arm of chromosome 6 (6p21.3 position), is composed of about 2000 kb of DNA and it is now clear that cytotrophoblast expresses HLA-G, and Hla-E and -F transcripts have been reported in the human placenta.
Substituent effect and enthalpy-entropy compensation on the inclusion ofβ-cyclodextrin with 1-substituted naphthalenes
The inclusion complexation ofβ-CD with 1-substituted naphthalenes has been investigated by fluorescence spectroscopy. It was observed that the association constants were influenced by the molar
A study on the inclusion complexation of 3,4,5-trihydroxybenzoic acid with β-cyclodextrin at different pH
Effect of β-cyclodextrin (β-CD) on the absorption and fluorescence spectra of 3,4,5-trihydroxybenzoic acid (THB) have been studied buffer solutions of different pHs (pH ~1, pH ~7 and pH ~10). The
Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria.
TLDR
The chromosomal assignment of Piga, as well as of Pigf and Pigh, two additional genes involved in GPI-anchor biosynthesis, has been established using a mouse interspecific backcross mapping technique, which helps to explain the predominant class A defect in PNH.

References

SHOWING 1-10 OF 11 REFERENCES
Imprinting and splicing join together
A gene thought to be involved in RNA splicing, and which is imprinted in mice, may play an important part in Prader–Willi syndrome
Methylation and imprinting: from host defense to gene regulation?
TLDR
Genetic imprinting causes the expression of a gene to vary according to its maternal or paternal origin, and the raison d'etre of imprinting is unclear.
Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour
TLDR
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.
IGF2 is parentally imprinted during human embryogenesis and in the Beckwith–Wiedemann syndrome
TLDR
By exploiting sequence polymorphisms in exon nine of the human insulin–like growth factor 2 (IGF2) gene, it is shown that only the paternally–inherited allele is active in embryonic and extra–embryonic cells from first trimester pregnancies.
Physical linkage of two mammalian imprinted genes, H19 and insulin–like growth factor 2
TLDR
It is concluded that H19 and Igf–2 constitute an imprinted domain that is conserved in humans, based on pulsed–field gel analysis.
Parental-origin-specific epigenetic modification of the mouse H19 gene
TLDR
It is shown that specific sites in the CpG island promoter and 5′ portion of the gene are methylated only on the paternal allele, and active maternal alleles in chromatin of MatDi7 embryos are more sensitive and accessible to nucleases, therefore hypermethylation and chromatin compaction in the region of the H19 promoter is associated with repression of the paternally inherited copy of the genes.
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.
Parental genomic imprinting of the human IGF2 gene
TLDR
It is concluded that, as in the mouse, human IGF2, the human homologue, is parentally imprinted.
Uniparental paternal disomy in a genetic cancer-predisposing syndrome
TLDR
It is shown that uniparental paternal disomy can be associated with a genetic cancer-predisposing syndrome and an overall greatly increased frequency of homozygosity for several 11p15.5 markers in 21 sporadic BWS patients suggests that isodisomy probably accounts for an even higher proportion of BWS sporadic cases.
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