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Transcript
Genomic imprinting Although we inherit two copies of all genes, except those that reside on the sex chromosomes, there is a subset of these genes in which only the paternal or maternal copy is functional. One gene copy is silenced depending on the sex of the transmitting parent 5/23/2017 Weird Genetics 1 Over 30 imprinted genes have been discovered since the early 1990’s Example 1: The insulin-like growth factor 2 (Igf2) and H19 genes. The sole purpose of H19 appears to be to 'imprint' Igf2. 5/23/2017 Weird Genetics 2 What is genomic imprinting? The expression or the inactivation of either the maternal or paternal allele of a particular locus. 5/23/2017 Weird Genetics 3 Estimates of the number of imprinted genes in the mammalian genome range from less than 100 to greater than 200. 5/23/2017 Weird Genetics 4 What modification of DNA is thought to be responsible for genomic imprinting? 5/23/2017 Weird Genetics 5 Some examples of possible imprinted diseases include: Huntington's disease Cystic fibrosis Prader-Willi and Angelman syndromes Birth defects such as spina bifida Some cancers such as Wilm's tumor (associated with loss of methylation of the Igf2 insulin-like growth factor gene) 5/23/2017 Weird Genetics 6 11p15.5 Beckwith– Wiedemann syndrome (BWS) -- a growth disorder with risk of childhood cancers 5/23/2017 Weird Genetics 7 Paternal 'antisense' transcripts are being found associated with maternally expressed imprinted genes. 5/23/2017 Weird Genetics 8
