Genomic imprinting and imprinting defects in humans.
In placental mammals some 100-200 genes are expressed only from the paternal or the maternal allele. This peculiar expression pattern is the result of genomic imprinting, an epigenetic process by which the male and the female germ line confer a parent-of-origin specific mark (imprint) on certain chromosomal regions. The size of imprinted regions ranges from several kilobases to several megabases. The process of genomic imprinting is controlled by cis-acting imprinting centers (IC) and trans-acting factors. IC mutations affect the establishment or maintenance of genomic imprints and hence the expression of all imprinted genes controlled by this IC. Imprinting defects play a causal role in several recognizable syndromes.
Horsthemke
Bernhard
B
Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany.
Buiting
Karin
K
D002880:Chromosomes, Human, Pair 11; D002884:Chromosomes, Human, Pair 15; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D018392:Genomic Imprinting / Q000502:physiology*; D006801:Humans; D008954:Models, Biological; D008957:Models, Genetic; D009030:Mosaicism; D010290:Parents; D010375:Pedigree