SnapShot: Imprinted Gene Clusters

Abstract

The majority of imprinted genes are found in conserved clusters in the mammalian genome. Shown are mouse imprinted genes that are part of larger imprinting clusters (variations in hum cluster has a prominent gene indicated in the left most column and one or more noncoding (nc)RNAs, which in many cases are critical for the domain-wide regulation of the cluster. A associated imprinted genes that typically are jointly regulated through a common imprinting control region (ICR). Single imprinted gene loci are not included in this table and can be foun ics Unit, Genomic Imprinting: http://www.mgu.har.mrc.ac.uk/research/imprinting; University of Otago, Catalogue of Parent of Origin Effects: http://igc.otago.ac.nz/home.html. The offi c parentheses. 1The prominent protein-coding gene within each cluster is listed in this column. The exception to this is Xist, which encodes a long ncRNA that coats the inactive X chromosome in female 2In most cases these associated genes are jointly regulated through the linked ICR. 3ICR indicates that the DMR has been validated as an imprinting control region by gene targeting studies in mice: deletion or mutation of the DMR results in loss of imprinting of at least o 4The mechanism of imprinting is unknown for most of the clusters (designated as not determined, ND) but currently two types of clusters have been identifi ed. In one type of cluster a C expression. In the second type of cluster imprinting requires transcription of a long ncRNA that is usually initiated from a hypomethylated DMR/promoter. A question mark indicates that t 5UCSC Mouse build February 2006 and Human build March 2006. 6Deletion, mutation, or aberrant expression of the genes in the cluster results in the listed human disease. Additionally, ICR deletions and methylation abnormalities can cause these s disomies are associated with distinct abnormal phenotypes. Only proven associations are shown. 7Tissue-specifi c imprinting. 8Not imprinted in human. 9Imprinting status in human is unknown or confl icting. 10All short ncRNAs at this locus may be part of a longer ncRNA. 11The ICR regulating the paternally expressed genes has been identifi ed for mouse and human (PWS-IC) whereas the ICR that regulates the maternally expressed genes has been identifi e appears to be important for regulating both paternal and maternal genes at this locus. 12Loss of multiple paternally expressed genes is responsible for Prader-Willi syndrome (PWS) and loss of Ube3a expression is responsible for Angelman syndrome (AS). 13Mutations in SGCE are found in patients with Myoclonus dystonia syndrome. 14No human ortholog present at locus. S ee oline vsion or refences nd aknow ed em ets. 58