Human and mouse SYBL1 gene structure and expression

Matarazzo, Maria R.; Cuccurese, Monica; Strazzullo, Maria; Vacca, Marcella; Curci, Anna; Miano, Maria Giuseppina; Cocchia, Massimo; Mercadante, Grazia; Torino, Anna; D’Urso, Michele; Ciccodicola, Alfredo; D’Esposito, Maurizio

doi:10.1016/s0378-1119(99)00375-3

Cited by 9 publications

(13 citation statements)

References 21 publications

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“…The inactivation of SPRY3 is independent of DNA methylation and is unaltered in ICF cell lines ( Fig. 1 and Table 1) (14,18).…”

Section: Inactivation ͉ Y Chromosomementioning

confidence: 95%

“…The silent Xi and Y alleles of both genes are associated with repressive histone marks, but only SYBL1 silencing is associated with DNA methylation (Table 1) (14,18). We first used 2D FISH to compare how the differentially expressed alleles of SPRY3 and SYBL1 are organized relative to territories of the X and Y in cells from a normal male (Fig.…”

Section: Differential Nuclear Organization Of the Par2 Region On The mentioning

confidence: 99%

“…Of the two PAR2 genes (SPRY3 and SYBL1) that are subject to XCI, only SYBL1 is modified by DNA methylation (at its CpG island) on both Xi and the Y of male cells. In ICF, hypomethylation of the SYBL1 CpG island is associated with abnormal expression of both the Xi-and Y-linked SYBL1 alleles (14). The inactivation of SPRY3 is independent of DNA methylation and is unaltered in ICF cell lines ( Fig.…”

mentioning

confidence: 98%

“…The inactivation of SPRY3 is independent of DNA methylation and is unaltered in ICF cell lines ( Fig. 1 and Table 1) (14,18).Because the hypomethylation defect is restricted to a limited number of loci, ICF cells provide a unique opportunity to examine the specific effect of loss of DNA methylation on the organization of CTs. We used interphase FISH to examine the nuclear organization of PAR2 genes on the long arms of the human X and Y chromosomes (Fig.…”

mentioning

confidence: 99%

“…However, the genome-wide demethylation that follows 5-azacytidine treatment or genetic deficiency in DNA methyltransferases makes it difficult to investigate the direct effects of DNA methylation on chromosome organization at specific loci. Mutations in the DNA methyltransferase DNMT3B in immunodeficiency centromeric instability facial anomalies (ICF) syndrome patients (14) lead to loss of DNA methylation at specific genomic sites (15,16). Prominent sites of hypomethylation in ICF are satellite DNAs in the juxtacentromeric heterochromatin at chromosome regions 1qh, 16qh, and 9qh, and aberrant association of the satellite II-rich 1qh and 16qh regions has been seen in nuclei of ICF cells (17).…”

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confidence: 99%

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Chromosome territory reorganization in a human disease with altered DNA methylation

Matarazzo

Boyle

D’Esposito

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

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Chromosome territory (CT) organization and chromatin condensation have been linked to gene expression. Although individual genes can be transcribed from inside CTs, some regions that have constitutively high expression or are coordinately activated loop out from CTs and decondense. The relationship between epigenetic marks, such as DNA methylation, and higher-order chromatin structures is largely unexplored. DNMT3B mutations in immunodeficiency centromeric instability facial anomalies (ICF) syndrome result in loss of DNA methylation at particular sites, including CpG islands on the inactive X chromosome (Xi). This allows the specific effects of DNA methylation on CTs to be examined. Using fluorescence in situ hybridization, we reveal a differential organization of the human pseudoautosomal region (PAR)2 between the CTs of the X and Y in normal males and the active X (Xa) and the Xi in females. There is also a more condensed chromatin structure on Xi compared with Xa in this region. PAR2 genes are relocalized toward the outside of the Y and Xi CTs in ICF, and on the Xi, we show that this can extend to genes distant from the site of DNA hypomethylation itself. This reorganization is not simply a reflection of the transcriptional activation of the relocalized genes. This report of altered CT organization in a human genetic disease illustrates that DNA hypomethylation at restricted sites in the genome can lead to more extensive changes in nuclear organization away from the original site of epigenetic change. X inactivation ͉ Y chromosomeT o fully understand the orchestration of gene expression, it is necessary to understand how chromatin is spatially organized within the cell nucleus. In particular, the position of a gene with respect to its chromosome territory (CT) and the chromatin condensation of its genomic region have been linked to gene activation and repression (1). Although individual genes can be transcribed from inside of CTs (2), some regions that have constitutively high gene expression (3,4) or are subject to coordinate gene activation during development (5, 6) or differentiation (7) or in response to physiological stimuli (8) locate at the edge or outside of their CT. This level of nuclear reorganization is often accompanied by a visible level of chromatin decondensation (5, 6, 9). The precise function, if any, of repositioning toward the outside of CTs remains unclear (1), but it may allow for genes to access a nuclear environment enriched in the components of the transcription (10) and/or mRNAprocessing machinery (4,11,12) and so enhance the efficiency of transcription.The interplay between this level of higher-order chromatin organization and epigenetic mechanisms that act at primary levels of chromatin structure, such as DNA methylation, is a little-explored area. In plants, changes in the architecture of CTs can be induced by treatment with inhibitors of DNA methylation (13). However, the genome-wide demethylation that follows 5-azacytidine treatment or genetic deficiency in DNA methyltransferase...

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“…The inactivation of SPRY3 is independent of DNA methylation and is unaltered in ICF cell lines ( Fig. 1 and Table 1) (14,18).…”

Section: Inactivation ͉ Y Chromosomementioning

confidence: 95%

Section: Differential Nuclear Organization Of the Par2 Region On The mentioning

confidence: 99%

mentioning

confidence: 98%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Chromosome territory reorganization in a human disease with altered DNA methylation

Matarazzo

Boyle

D’Esposito

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

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Difference between random and imprinted X inactivation in common voles

et al. 2010

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During early development in female mammals, most genes on one of the two X-chromosomes undergo transcriptional silencing. In the extraembryonic lineages of some eutherian species, imprinted X-inactivation of the paternal X-chromosome occurs. In the cells of the embryo proper, the choice of the future inactive X-chromosome is random. We mapped several genes on the X-chromosomes of five common vole species and compared their expression and methylation patterns in somatic and extraembryonic tissues, where random and imprinted X-inactivation occurs, respectively. In extraembryonic tissues, more genes were expressed on the inactive X-chromosome than in somatic tissues. We also found that the methylation status of the X-linked genes was always in accordance with their expression pattern in somatic, but not in extraembryonic tissues. The data provide new evidence that imprinted X-inactivation is less complete and/or stable than the random form and DNA methylation contributes less to its maintenance.

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High mutation rates in human and ape pseudoautosomal genes

Filatov¹,

Gerrard²

2003

Gene

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Human and mouse SYBL1 gene structure and expression

Cited by 9 publications

References 21 publications

Chromosome territory reorganization in a human disease with altered DNA methylation

Chromosome territory reorganization in a human disease with altered DNA methylation

Difference between random and imprinted X inactivation in common voles

High mutation rates in human and ape pseudoautosomal genes

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