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Please use this identifier to cite or link to this item: http://hdl.handle.net/11019/333

Title: The Imprinted Retrotransposon-Like Gene PEG11 (RTL1) Is Expressed as a Full-Length Protein in Skeletal Muscle from Callipyge Sheep
Authors: Byrne, Keren
Colgrave, Michelle L.
Vuocolo, Tony
Pearson, Roger
Bidwell, Christopher A.
Cockett, Noelle E.
Lynn, David J
Fleming-Waddell, Jolena N.
Tellam, Ross L.
Keywords: Polar Overdominance
Trans-interaction
PEG11
muscle hypertrophy
Issue Date: 8-Jan-2010
Publisher: PLOS
Citation: Byrne K, Colgrave ML, Vuocolo T, Pearson R, Bidwell CA, et al. (2010) The Imprinted Retrotransposon-Like Gene PEG11 (RTL1) Is Expressed as a Full-Length Protein in Skeletal Muscle from Callipyge Sheep. PLoS ONE 5(1): e8638. doi:10.1371/journal.pone.0008638
Series/Report no.: PLoS One;vol 5
Abstract: Members of the Ty3-Gypsy retrotransposon family are rare in mammalian genomes despite their abundance in invertebrates and some vertebrates. These elements contain a gag-pol-like structure characteristic of retroviruses but have lost their ability to retrotranspose into the mammalian genome and are thought to be inactive relics of ancient retrotransposition events. One of these retrotransposon-like elements, PEG11 (also called RTL1) is located at the distal end of ovine chromosome 18 within an imprinted gene cluster that is highly conserved in placental mammals. The region contains several conserved imprinted genes including BEGAIN, DLK1, DAT, GTL2 (MEG3), PEG11 (RTL1), PEG11as, MEG8, MIRG and DIO3. An intergenic point mutation between DLK1 and GTL2 causes muscle hypertrophy in callipyge sheep and is associated with large changes in expression of the genes linked in cis between DLK1 and MEG8. It has been suggested that over-expression of DLK1 is the effector of the callipyge phenotype; however, PEG11 gene expression is also strongly correlated with the emergence of the muscling phenotype as a function of genotype, muscle type and developmental stage. To date, there has been no direct evidence that PEG11 encodes a protein, especially as its anti-sense transcript (PEG11as) contains six miRNA that cause cleavage of the PEG11 transcript. Using immunological and mass spectrometry approaches we have directly identified the full-length PEG11 protein from postnatal nuclear preparations of callipyge skeletal muscle and conclude that its over-expression may be involved in inducing muscle hypertrophy. The developmental expression pattern of the PEG11 gene is consistent with the callipyge mutation causing recapitulation of the normal fetal-like gene expression program during postnatal development. Analysis of the PEG11 sequence indicates strong conservation of the regions encoding the antisense microRNA and in at least two cases these correspond with structural or functional domains of the protein suggesting co-evolution of the sense and antisense genes.
Description: peer-reviewed
URI: http://hdl.handle.net/11019/333
http://dx.doi.org/10.1371/journal.pone.0008638
ISSN: 1932-6203
Appears in Collections:Animal & Bioscience

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