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Genomic imprinting disorders in humans: a mini-review
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GENETICS
Genomic imprinting disorders in humans: a mini-review
Merlin G. Butler1 
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Departments of Psychiatry & Behavioral Sciences and Pediatrics, Kansas University Medical Center, 3901 Rainbow Boulevard, MS 4015, Kansas City, KS 66160, USA |
Received: 25 August 2009 Accepted: 6 October 2009 Published online: 21 October 2009
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.
Keywords 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
Capsule Disturbances in imprinted genes cause several human diseases involving neurological disorders, obesity, diabetes and malignancies
with expression patterns of imprinted genes potentially influenced by the environment including assisted reproductive technology.
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