A Novel Imprinted Gene, Encoding a RING Zinc-Finger Protein, and Overlapping Antisense Transcript in the Prader-Willi Syndrome Critical Region

Jong, Michelle T. C.; Gray, Todd A.; Ji, Yuandong; Glenn, Christopher C.; Saitoh, Shinji; Driscoll, Daniel J.; Nicholls, Robert D.

doi:10.1093/hmg/8.5.783

Cited by 206 publications

(129 citation statements)

References 61 publications

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“…IPW (Imprinted in Prader-Willi) was isolated as a novel imprinted ncRNA gene from the PWCR (Prader-Willi chromosome region) that produces a spliced and polyadenylated ncRNA (Wevrick et al 1994). The same locus also codes for another ncRNA gene, ZNF127AS, an antisense gene to ZNF127 expressed in brain and lungs (Jong et al 1999). AS is characterized by ataxic gate, jerky arm movements, inappropriate laughter, and severe mental retardation (Williams et al 1995).…”

Section: Prader-willi/angelman Syndrome (Pws/as) Locusmentioning

confidence: 99%

Eukaryotic regulatory RNAs: an answer to the ‘genome complexity’ conundrum

Prasanth¹,

Spector²

2007

Genes Dev.

363

305

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A large portion of the eukaryotic genome is transcribed as noncoding RNAs (ncRNAs). While once thought of primarily as "junk," recent studies indicate that a large number of these RNAs play central roles in regulating gene expression at multiple levels. The increasing diversity of ncRNAs identified in the eukaryotic genome suggests a critical nexus between the regulatory potential of ncRNAs and the complexity of genome organization. We provide an overview of recent advances in the identification and function of eukaryotic ncRNAs and the roles played by these RNAs in chromatin organization, gene expression, and disease etiology.

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Section: Prader-willi/angelman Syndrome (Pws/as) Locusmentioning

confidence: 99%

Eukaryotic regulatory RNAs: an answer to the ‘genome complexity’ conundrum

Prasanth¹,

Spector²

2007

Genes Dev.

363

305

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“…Gels were dried on Whatman 3 MM paper (Whatman, Clifton, NJ) and exposed to X-OMAT AR film. A 6-kb HindIII fragment from the p34 region upstream of ZNF 127, which contains strong MARs on 2.7-and 3.3-kb fragments generated by BamHI digestion (35,36), was used as a positive control in these assays. The vector DNA from which the test fragments were excised served as an internal negative control.…”

Section: Mar Assaysmentioning

confidence: 99%

Identification of a Candidate Regulatory Region in the HumanCD8Gene Complex by Colocalization of DNase I Hypersensitive Sites and Matrix Attachment Regions Which Bind SATB1 and GATA-3

Kieffer

Greally

Landres³

et al. 2002

The Journal of Immunology

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To locate elements regulating the human CD8 gene complex, we mapped nuclear matrix attachment regions (MARs) and DNase I hypersensitive (HS) sites over a 100-kb region that included the CD8B gene, the intergenic region, and the CD8A gene. MARs facilitate long-range chromatin remodeling required for enhancer activity and have been found closely linked to several lymphoid enhancers. Within the human CD8 gene complex, we identified six DNase HS clusters, four strong MARs, and several weaker MARs. Three of the strong MARs were closely linked to two tissue-specific DNase HS clusters (III and IV) at the 3′ end of the CD8B gene. To further establish the importance of this region, we obtained 19 kb of sequence and screened for potential binding sites for the MAR-binding protein, SATB1, and for GATA-3, both of which are critical for T cell development. By gel shift analysis we identified two strong SATB1 binding sites, located 4.5 kb apart, in strong MARs. We also detected strong GATA-3 binding to an oligonucleotide containing two GATA-3 motifs located at an HS site in cluster IV. This clustering of DNase HS sites and MARs capable of binding SATB1 and GATA-3 at the 3′ end of the CD8B gene suggests that this region is an epigenetic regulator of CD8 expression.

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“…Makorin, ring finger protein, 3 (Mkrn3/Znf127) is paternally expressed in both the mouse and human and is predicted to function as a ribonucleoprotein (Jong et al 1999a). Paternal expression was found in the mouse brain, heart and kidney, as well as in normal and androgenetic fibroblasts, but not in parthenogenetic embryo-derived fibroblasts (Jong et al 1999b). Mkrn3 was also found to be expressed in growing murine oocytes, but not in fully grown oocytes .…”

Section: Introductionmentioning

confidence: 99%

Putative imprinted gene expression in uniparental bovine embryo models

Cruz

Wilson

Cooney

et al. 2008

Reprod. Fertil. Dev.

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Abstract. Altered patterns of gene expression and the imprinted status of genes have a profound effect on cell physiology and can markedly alter embryonic and fetal development. Failure to maintain correct imprinting patterns can lead to abnormal growth and behavioural problems, or to early pregnancy loss. Recently, it has been reported that the Igf2R and Grb10 genes are biallelically expressed in sheep blastocysts, but monoallelically expressed at Day 21 of development. The present study investigated the imprinting status of 17 genes in in vivo, parthenogenetic and androgenetic bovine blastocysts in order to determine the prevalence of this unique phenomenon. Specifically, the putatively imprinted genes Ata3, Impact, L3Mbtl, Magel2, Mkrn3, Peg3, Snrpn, Ube3a and Zac1 were investigated for the first time in bovine in vitro fertilised embryos. Ata3 was the only gene not detected. The results of the present study revealed that all genes, except Xist, failed to display monoallelic expression patterns in bovine embryos and support recent results reported for ovine embryos. Collectively, the data suggest that monoallelic expression may not be required for most imprinted genes during preimplantation development, especially in ruminants. The research also suggests that monoallelic expression of genes may develop in a gene-and time-dependent manner.

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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

Cited by 206 publications

References 61 publications

Eukaryotic regulatory RNAs: an answer to the ‘genome complexity’ conundrum

Eukaryotic regulatory RNAs: an answer to the ‘genome complexity’ conundrum

Identification of a Candidate Regulatory Region in the HumanCD8Gene Complex by Colocalization of DNase I Hypersensitive Sites and Matrix Attachment Regions Which Bind SATB1 and GATA-3

Putative imprinted gene expression in uniparental bovine embryo models

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