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Eukaryotic DNA methylation as an evolutionary device
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An essay on the biological function(s) of DNA methylation. The evolutionary conservation of DNA methylation is explained because it provides unique possibilities to create various functions that may coexist in one organism.
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Colot V., Rossignol J.L. Eukaryotic DNA methylation as an evolutionary device. Bioessays. 21:1999;402-411. An essay on the biological function(s) of DNA methylation. The evolutionary conservation of DNA methylation is explained because it provides unique possibilities to create various functions that may coexist in one organism.
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Colot, V.1
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Epigenetics: Regulation through repression
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This paper reviews how epigenetic mechanisms for gene regulation can be triggered by nucleic acid homologies that may be related to defense systems to protect cells from invasive DNA and RNA pathogens.
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Wolffe A.P., Matzke M.A. Epigenetics: regulation through repression. Science. 286:1999;481-486. This paper reviews how epigenetic mechanisms for gene regulation can be triggered by nucleic acid homologies that may be related to defense systems to protect cells from invasive DNA and RNA pathogens.
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Imprinting and paternal genome elimination in insects
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R. Ohlsson. Berlin: Springer. Imprinting is comprehensively reviewed from a historical and non-mammalian perspective that clearly defines the principle parts of the imprinting mechanism.
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Herrick G., Seger J. Imprinting and paternal genome elimination in insects. Ohlsson R Results and Problems in Cell Differentiation. 1999;41-71 Springer, Berlin. Imprinting is comprehensively reviewed from a historical and non-mammalian perspective that clearly defines the principle parts of the imprinting mechanism.
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Results and Problems in Cell Differentiation
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Herrick, G.1
Seger, J.2
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0032419812
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Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2
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The functional test for the H19 upstream imprinted region shows its necessity for paternal repression of H19 and for maternal repression of Igf2.
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Thorvaldsen J.L., Duran K.L., Bartolomei M.S. Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2. Genes Dev. 12:1998;3693-3702. The functional test for the H19 upstream imprinted region shows its necessity for paternal repression of H19 and for maternal repression of Igf2.
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Thorvaldsen, J.L.1
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Imprinted expression of the Igf2r gene depends on an intronic CpG island
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The functional test for the Igf2r imprinted region shows that it is required to silence the paternal Igf2r allele and is not required for maternal expression.
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Wutz A., Smrzka O.W., Schweifer N., Schellander K., Wagner E.F., Barlow D.P. Imprinted expression of the Igf2r gene depends on an intronic CpG island. Nature. 389:1997;745-749. The functional test for the Igf2r imprinted region shows that it is required to silence the paternal Igf2r allele and is not required for maternal expression.
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Wutz, A.1
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Li, E.1
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DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development
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The first identification of de novo methyltransferase enzymes. Loss of function in embryonic cells blocked de novo methylation, but gametic imprints of H19 and Igf2r remain intact. Loss of function studies in germ cells have yet to be performed.
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Okano M., Bell D.W., Haber D.A., Li E. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell. 99:1999;247-257. The first identification of de novo methyltransferase enzymes. Loss of function in embryonic cells blocked de novo methylation, but gametic imprints of H19 and Igf2r remain intact. Loss of function studies in germ cells have yet to be performed.
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Okano, M.1
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Reik, W.1
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The imprinting box of the mouse Igf2r gene
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Use of a transient in vivo assay to identify a 8-bp DNA element that putatively attracts de novo methylation to the Igf2r imprinted region in the oocyte.
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Birger Y., Shemer R., Perk J., Razin A. The imprinting box of the mouse Igf2r gene. Nature. 397:1999;84-88. Use of a transient in vivo assay to identify a 8-bp DNA element that putatively attracts de novo methylation to the Igf2r imprinted region in the oocyte.
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Nature
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Birger, Y.1
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Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster
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Other elements besides the H19 gene and upstream imprinted region are involved in imprinting the mouse chromosome 7 distal gene cluster. Moreover, lack of methylation both activates and silences genes within the cluster.
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Caspary T., Cleary M.A., Baker C.C., Guan X.J., Tilghman S.M. Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster. Mol Cell Biol. 18:1998;3466-3474. Other elements besides the H19 gene and upstream imprinted region are involved in imprinting the mouse chromosome 7 distal gene cluster. Moreover, lack of methylation both activates and silences genes within the cluster.
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Caspary, T.1
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Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern
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Tilghman, S.M.1
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Enhancer competition between H19 and Igf2 does not mediate their imprinting
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The result that deletion of the H19 gene including the promoter but not the imprinted region does not affect Igf2 expression challenges the enhancer-competition model. The imprinted region is postulated to function as a boundary that dictates Igf2 expression.
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Schmidt J.V., Levorse J.M., Tilghman S.M. Enhancer competition between H19 and Igf2 does not mediate their imprinting. Proc Natl Acad Sci USA. 96:1999;9733-9738. The result that deletion of the H19 gene including the promoter but not the imprinted region does not affect Igf2 expression challenges the enhancer-competition model. The imprinted region is postulated to function as a boundary that dictates Igf2 expression.
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Proc Natl Acad Sci USA
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A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
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Loss of imprinted expression of an antisense, reciprocally expressed transcript, which arises within an intron of the imprinted KVLQT1 gene, is associated with the Beckwith-Wiedemann syndrome and might be an additional factor that regulates Igf2 levels.
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Smilinich N.J., Day C.D., Fitzpatrick G.V., Caldwell G.M., Lossie A.C., Cooper P.R., Smallwood A.C., Joyce J.A., Schofield P.N., Reik W.et al. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc Natl Acad Sci USA. 96:1999;8064-8069. Loss of imprinted expression of an antisense, reciprocally expressed transcript, which arises within an intron of the imprinted KVLQT1 gene, is associated with the Beckwith-Wiedemann syndrome and might be an additional factor that regulates Igf2 levels.
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Smilinich, N.J.1
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Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
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Some cases of Beckwith-Wiedemann syndrome show no linkage between loss of Igf2 imprinted expression and loss of KVLQT-AS imprinted expression.
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Lee M.P., DeBaun M.R., Mitsuya K., Galonek H.L., Brandenburg S., Oshimura M., Feinberg A.P. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. Proc Natl Acad Sci USA. 96:1999;5203-5208. Some cases of Beckwith-Wiedemann syndrome show no linkage between loss of Igf2 imprinted expression and loss of KVLQT-AS imprinted expression.
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Lee, M.P.1
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A model system to study genomic imprinting of human genes
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Human-mouse mono-chromosomal somatic-cell hybrids can retain imprinted expression of human genes, which demonstrates the conservation of the imprinting mechanism in these organisms.
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Gabriel J.M., Higgins M.J., Gebuhr T.C., Shows T.B., Saitoh S., Nicholls R.D. A model system to study genomic imprinting of human genes. Proc Natl Acad Sci USA. 95:1998;14857-14862. Human-mouse mono-chromosomal somatic-cell hybrids can retain imprinted expression of human genes, which demonstrates the conservation of the imprinting mechanism in these organisms.
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Cloning of the mouse and human solute carrier 22a3 (Slc22a3/SLC22A3) identifies a conserved cluster of three organic cation transporters on mouse chromosome 17 and human 6q26-q27
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Verhaagh S., Schweifer N., Barlow D.P., Zwart R. Cloning of the mouse and human solute carrier 22a3 (Slc22a3/SLC22A3) identifies a conserved cluster of three organic cation transporters on mouse chromosome 17 and human 6q26-q27. Genomics. 55:1999;209-218.
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Characterization of the C3 YAC contig from proximal mouse chromosome 17 and analysis of allelic expression of genes flanking the imprinted Igf2r gene
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Asynchronous replication of imprinted genes is established in the gametes and maintained during development
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Example of a non-imprinted gene that generates a non-coding antisense RNA.
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Moore T., Constancia M., Zubair M., Bailleul B., Feil R., Sasaki H., Reik W. Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2. Proc Natl Acad Sci USA. 94:1997;12509-12514.
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A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region
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Jong M.T., Gray T.A., Ji Y., Glenn C.C., Saitoh S., Driscoll D.J., Nicholls R.D. A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region. Hum Mol Genet. 8:1999;783-793.
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Targeted deletion of the Tsix promoter that generates a transcript antisense to the Xist RNA (that is responsible for X inactivation) leaves counting intact but affects chromosome choice, and X inactivation is no longer random.
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Lee J.T., Lu N. Targeted mutagenesis of Tsix leads to nonrandom X inactivation. Cell. 99:1999;47-57. Targeted deletion of the Tsix promoter that generates a transcript antisense to the Xist RNA (that is responsible for X inactivation) leaves counting intact but affects chromosome choice, and X inactivation is no longer random.
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An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
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Another example of a pair of reciprocally expressed imprinted coding and non-coding genes.
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LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids
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Identification of the KVLQT-AS RNA using a novel screen that is based on human-mouse mono-chromosomal cell hybrids.
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