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PMID: 18532878 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

The evolution of the DLK1-DIO3 imprinted domain in mammals.

PLoS biology ·Vol. 6 ·No. 6 ·2008-06-03 ·Pages e135

Edwards CA, Mungall AJ, Matthews L, Ryder E, Gray DJ, Pask AJ, Shaw G, Graves JA, Rogers J, SAVOIR consortium, Dunham I, Renfree MB, Ferguson-Smith AC

Abstract

A comprehensive, domain-wide comparative analysis of genomic imprinting between mammals that imprint and those that do not can provide valuable information about how and why imprinting evolved. The imprinting status, DNA methylation, and genomic landscape of the Dlk1-Dio3 cluster were determined in eutherian, metatherian, and prototherian mammals including tammar wallaby and platypus. Imprinting across the whole domain evolved after the divergence of eutherian from marsupial mammals and in eutherians is under strong purifying selection. The marsupial locus at 1.6 megabases, is double that of eutherians due to the accumulation of LINE repeats. Comparative sequence analysis of the domain in seven vertebrates determined evolutionary conserved regions common to particular sub-groups and to all vertebrates. The emergence of Dlk1-Dio3 imprinting in eutherians has occurred on the maternally inherited chromosome and is associated with region-specific resistance to expansion by repetitive elements and the local introduction of noncoding transcripts including microRNAs and C/D small nucleolar RNAs. A recent mammal-specific retrotransposition event led to the formation of a completely new gene only in the eutherian domain, which may have driven imprinting at the cluster.

MeSH Terms
Animals Calcium-Binding Proteins Conserved Sequence Evolution, Molecular Genome Genomic Imprinting/genetics Humans Intercellular Signaling Peptides and Proteins/genetics Iodide Peroxidase/genetics Mammals Membrane Proteins/genetics Phylogeny Pregnancy Proteins/genetics
Chemicals
Calcium-Binding Proteins DLK1 protein, human Intercellular Signaling Peptides and Proteins Membrane Proteins Pregnancy Proteins Rtl1 protein, mouse Iodide Peroxidase
Authors & Affiliations
13 authors, click to expand affiliations / ORCID
Edwards Carol A
Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge, United Kingdom.
Mungall Andrew J
Matthews Lucy
Ryder Edward
Gray Dionne J
Pask Andrew J
Shaw Geoffrey
Graves Jennifer A M
Rogers Jane
SAVOIR consortium
Dunham Ian
Renfree Marilyn B
Ferguson-Smith Anne C
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Article Info
Journal
PLoS biology
Abbr.
PLoS Biol
ISSN
1545-7885
DOI
10.1371/journal.pbio.0060135
Published
2008-06-03
Pages
e135
Language
English
Region
United States
NLM ID
101183755
PMCID
PMC2408620
Subset
IM
Grants
Wellcome Trust · United Kingdom
Medical Research Council · G0400156 · United Kingdom
External Links
PubMed source DOI: 10.1371/journal.pbio.0060135 PMC Full Text View journal details
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