DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1995-11

AUTHORS

Simone Schuffenhauer, Oliver Bartsch, Markus Stumm, Tina Buchholz, Theoni Petropoulou, Sabine Kraft, Bernd Belohradsky, Georg Klaus Hinkel, Thomas Meitinger, Rolf-Dieter Wegner

ABSTRACT

ICF syndrome (ICFS) is a rare immunodeficiency disorder characterized by instability of the pericentromeric heterochromatin predominantly of chromosomes 1 and 16. DNA methylation studies in two unrelated ICFS patients provide further evidence for a marked hypomethylation of satellite 2 DNA. The ICFS-specific disturbances of chromatin structure take place within the satellite 2 DNA regions, as demonstrated by fluorescence in situ hybridization analysis. Moreover, methylation studies of genomic imprinted loci D15S63, D15S9, and H19 have revealed hypomethylation to different degrees in both patients; this provides evidence for hypomethylation at autosomal single copy loci in ICFS. Cell fusion experiments have revealed a distinct reduction of chromosomal abnormalities in ICFS cells after fusion with normal cells, suggesting that the abnormalities are caused by the loss of function of an as yet unknown trans acting factor. Although it is now clear that wide-spread DNA hypomethylation is a characteristic feature of ICFS, neither the cause and mechanism of hypomethylation nor their relationship to the clinical symptoms is known. We speculate that a phenotypic effect might result from tissue-dependent abnormal gene expression and/or from a possible structural disturbance of DNA domains, which, with respect to the immunodeficiency, partially prevents the normal somatic recombinations in immunologically active cells. More... »

PAGES

562-571

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00197412

DOI

http://dx.doi.org/10.1007/bf00197412

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PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8530004


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53 chromosome 1
54 clinical symptoms
55 complementation studies
56 degree
57 different degrees
58 disorders
59 distinct reduction
60 disturbances
61 domain
62 effect
63 evidence
64 experiments
65 expression
66 factors
67 features
68 fish
69 fluorescence
70 function
71 further evidence
72 fusion
73 fusion experiments
74 gene expression
75 heterochromatin
76 hybridization analysis
77 hypomethylation
78 immunodeficiency
79 immunodeficiency disorders
80 instability
81 loci
82 loss
83 loss of function
84 marked hypomethylation
85 mechanism
86 methylation studies
87 normal cells
88 patients
89 pericentromeric heterochromatin
90 phenotypic effects
91 place
92 rare immunodeficiency disorder
93 recombination
94 reduction
95 region
96 relationship
97 respect
98 satellite 2 DNA
99 single-copy loci
100 situ hybridization analysis
101 somatic recombination
102 structural disturbances
103 structure
104 study
105 symptoms
106 syndrome
107 trans
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