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Journal of Assisted Reproduction and Genetics
Erschienen in: Journal of Assisted Reproduction and Genetics 9-10/2009

01.10.2009 | GENETICS

Genomic imprinting disorders in humans: a mini-review

verfasst von: Merlin G. Butler

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 9-10/2009

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Abstract

Mammals inherit two complete sets of chromosomes, one from the father and one from the mother, and most autosomal genes are expressed from both maternal and paternal alleles. Imprinted genes show expression from only one member of the gene pair (allele) and their expression are determined by the parent during production of the gametes. Imprinted genes represent only a small subset of mammalian genes that are present but not imprinted in other vertebrates. Genomic imprints are erased in both germlines and reset accordingly; thus, reversible depending on the parent of origin and leads to differential expression in the course of development. Genomic imprinting has been studied in humans since the early 1980’s and accounts for several human disorders. The first report in humans occurred in Prader-Willi syndrome due to a paternal deletion of chromosome 15 or uniparental disomy 15 (both chromosome 15s from only one parent) and similar genetic disturbances were reported later in Angelman syndrome.
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Metadaten
Titel
Genomic imprinting disorders in humans: a mini-review
verfasst von
Merlin G. Butler
Publikationsdatum
01.10.2009
Verlag
Springer US
Erschienen in
Journal of Assisted Reproduction and Genetics / Ausgabe 9-10/2009
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-009-9353-3

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