http://www.cnr.it/ontology/cnr/individuo/prodotto/ID185646
Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant (Articolo in rivista)
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- Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant (Articolo in rivista) (literal)
- Anno
- 2000-01-01T00:00:00+01:00 (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
- 10.1093/hmg/9.18.2575 (literal)
- Alternative label
Hansen, RS; Stoger, R; Wijmenga, C; Stanek, AM; Canfield, TK ; Luo, P; Matarazzo, MR; D'Esposito, M; Feil, R; Gimelli, G; Weemaes, CMR; Laird, CD; Gartler, SM (2000)
Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant
in Human molecular genetics (Print); Oxford University Press, Oxford (Regno Unito)
(literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- Hansen, RS; Stoger, R; Wijmenga, C; Stanek, AM; Canfield, TK ; Luo, P; Matarazzo, MR; D'Esposito, M; Feil, R; Gimelli, G; Weemaes, CMR; Laird, CD; Gartler, SM (literal)
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- ISI Web of Science (WOS) (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
- Univ Washington, Dept Med, Seattle, WA 98195 USA
Univ Washington, Dept Zool, Seattle, WA 98195 USA
Univ Washington, Dept Genet, Seattle, WA 98195 USA
Fred Hutchinson Canc Res Ctr, Program Mol Med, Seattle, WA 98104 USA
Wilhelmina Childrens Hosp, Dept Med Genet, Utrecht, Netherlands
Int Inst Genet & Biophys, I-80125 Naples, Italy
Babraham Inst, Programme Dev Genet, Cambridge, England
Ist G Gaslini, Lab Citogenet, Genoa, Italy
Univ Nijmegen Hosp, NL-6500 HB Nijmegen, Netherlands (literal)
- Titolo
- Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant (literal)
- Abstract
- Chromosomal abnormalities associated with hypomethylation of classical satellite regions are characteristic for the ICF immunodeficiency syndrome. We, as well as others, have found that these effects derive from mutations in the DNMT3B DNA methyltransferase gene. Here we examine further the molecular phenotype of ICF cells and report several examples of extensive hypomethylation that are associated with advanced replication time, nuclease hypersensitivity and a variable escape from silencing for genes on the inactive X and Y chromosomes. Our analysis suggests that all genes on the inactive X chromosome may be extremely hypomethylated at their 5' CpG islands, Our studies of G6PD in one ICF female and SYBL1 in another ICF female provide the first examples of abnormal escape from X chromosome inactivation in untransformed human fibroblasts, XIST RNA localization is normal in these cells, arguing against an independent silencing role for this RNA in somatic cells. SYBL1 silencing is also disrupted on the Y chromosome in ICF male cells. Increased chromatin sensitivity to nuclease was found at all hypomethylated promoters examined, including those of silenced genes, The persistence of inactivation in these latter cases appears to depend critically on delayed replication of DNA because escape from silencing was only seen when replication was advanced to an active X-like pattern. (literal)
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