Genomic imprinting at the mammalian Dlk1-Dio3 domain.
Genomic imprinting causes genes to be expressed or repressed depending on their parental origin. The majority of imprinted genes identified to date map in clusters and much of our knowledge of the mechanisms, function and evolution of imprinting have emerged from their analysis. The cluster of imprinted genes delineated by the delta-like homolog 1 gene and the type III iodothyronine deiodinase gene (Dlk1-Dio3) is located on distal mouse chromosome 12 and human chromosome 14. Its developmental importance is exemplified by severe phenotypes associated with altered dosage of these genes in mice and humans. The domain contains three imprinted protein-coding genes, Dlk1, Rtl1 and Dio3, expressed from the paternally inherited chromosome and several imprinted large and small noncoding RNA genes expressed from the maternally inherited homolog. Here, we discuss the function and regulation of imprinting at this domain.
da Rocha
Simao Teixeira
ST
Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge CB2 3EG, UK.
Edwards
Carol A
CA
Ito
Mitsuteru
M
Ogata
Tsutomu
T
Ferguson-Smith
Anne C
AC
D000818:Animals; D002135:Calcium-Binding Proteins; D002883:Chromosomes, Human, Pair 14; D005786:Gene Expression Regulation; D018392:Genomic Imprinting; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000737:chemistry* / Q000235:genetics*; D007453:Iodide Peroxidase / Q000737:chemistry* / Q000235:genetics; D008322:Mammals / Q000235:genetics*; D008565:Membrane Proteins / Q000737:chemistry* / Q000235:genetics*; D051379:Mice; D008954:Models, Biological; D017434:Protein Structure, Tertiary
D002135:Calcium-Binding Proteins; C512941:DLK1 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C117274:iodothyronine deiodinase type III; D007453:Iodide Peroxidase