Imprinting mutations on human chromosome 15.
Genomic imprinting is an epigenetic process by which the male and the female germline of viviparous taxa confer a sex-specific mark (imprint) on certain chromosomal regions. The imprint is reset in the germline of each generation, inherited through somatic cell divisions during postzygotic development and used to regulate parent-of-origin specific expression of susceptible genes. Aberrant imprinting leading to aberrant gene expression patterns represents a novel class of mutations and was first identified in patients with Angelman syndrome and Prader-Willi syndrome. The finding of inherited cis-acting mutations in some of these cases has led to the identification of an imprinting center, which is involved in resetting of the imprint during gametogenesis. Other mutations may interfere with the somatic inheritance of the imprint during postzygotic development.
Horsthemke
B
B
Institut für Humangenetik, Universitätsklinikum, Essen, Germany.
Dittrich
B
B
Buiting
K
K
D002884:Chromosomes, Human, Pair 15; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D009154:Mutation