Genomic imprinting: Summary of an NICHD conference
- 1 July 1993
- journal article
- nichd conference
- Published by Wiley in American Journal of Medical Genetics
- Vol. 46 (6) , 675-680
- https://doi.org/10.1002/ajmg.1320460614
Abstract
Compelling evidence for genomic imprinting as a pathogenetic mechanism in humans mandates re-evaluation of every genetic or multifactorial disease for parent-of-origin effects. In an expanding list of malformation syndromes, cancers, growth abnormalities, and chromosomal disorders, phenotypes may be determined by source rather than content of transmitted DNA. A multidisciplinary conference held on April 13–14, 1992, reviewed the substantial impact of genomic imprinting in mouse development and discussed in role in human pregnancy, childhood cancers, chromosomal translocations, X-inactivations, and several disorders associated with mental retardation. Topics for future research include the mechanism, timing, reversibility, and homology of the imprinting process.Keywords
This publication has 21 references indexed in Scilit:
- Programmed demethylation in CpG islands during human fetal developmentSomatic Cell and Molecular Genetics, 1991
- Possible Erasure of the Imprint on a Fragile X Chromosome When Transmitted by a MaleAmerican Journal of Medical Genetics, 1991
- A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosomeNature, 1991
- Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutationsSomatic Cell and Molecular Genetics, 1990
- Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndromeNature, 1989
- Fragile X syndrome: A hypothesis regarding the molecular mechanism of the phenotypeAmerican Journal of Medical Genetics, 1988
- Genomic imprinting determines methylation of parental alleles in transgenic miceNature, 1987
- International workshop on the fragile X and X‐linked mental retardationAmerican Journal of Medical Genetics, 1984
- Congenital myotonic dystrophy in Britain. II. Genetic basis.Archives of Disease in Childhood, 1975