Genomic imprinting disorders in humans: a mini-review

  • Merlin G. ButlerEmail author


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.


Genomic imprinting Human disorders Assisted reproductive technology DNA methylation Prader-Willi syndrome Angelman syndrome Silver-Russell syndrome Beckwith-Wiedemann syndrome Albright hereditary osteodystrophy Uniparental disomy 14 



I thank Carla Meister for expert preparation of the manuscript. Partial funding support was provided from the NIH rare disease grant (1U54RR019478) and a grant from PWSA (USA).


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© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  1. 1.Departments of Psychiatry & Behavioral Sciences and PediatricsKansas University Medical CenterKansas CityUSA

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