1997
DOI: 10.1038/ng1097-146
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Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

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Cited by 191 publications
(138 citation statements)
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“…Direct mutation analysis (Figure 3), however, revealed a weak positive signal for the mother (1-1) although both sisters (2-2, 2-3) were negative for the mutation. Serial dilutions showed that the signal in the mother was 1/64 of that in the proband (2)(3)(4)(5). Repeated analysis with fresh dilutions of the mother's DNA sample gave identical results.…”
Section: Pedigree 19supporting
confidence: 55%
See 1 more Smart Citation
“…Direct mutation analysis (Figure 3), however, revealed a weak positive signal for the mother (1-1) although both sisters (2-2, 2-3) were negative for the mutation. Serial dilutions showed that the signal in the mother was 1/64 of that in the proband (2)(3)(4)(5). Repeated analysis with fresh dilutions of the mother's DNA sample gave identical results.…”
Section: Pedigree 19supporting
confidence: 55%
“…5 The numbering adopted in this report is based on U75653; the addition of eight bases at the 5' end corrects this to the transcriptional start site. 6 In pedigree 11 the mutation 961G > A destroys a StyI restriction site CCTTGG and creates an MboI restriction site GATC.…”
Section: Mutation Analysismentioning
confidence: 99%
“…3). This comprises a PHDlike zinc finger and an additional C 2 C 2 motif just upstream, which is structurally similar to the GATA1 zinc fingers (Gibbons et al 1997;Argentaro et al 2007) and is highly related to the zinc finger domains of DNA methyltransferases (Argentaro et al 2007). The domain mediates binding to the amino-terminal tail of histone H3 trimethylated at lysine 9 (Dhayalan et al 2011;Eustermann et al 2011;Iwase et al 2011).…”
Section: Characterization Of the Atrx Gene And Its Protein Productmentioning
confidence: 99%
“…Based on this result and published data describing an alternative splicing event involving exon 6, we looked for transcripts with different 5 0 -ends of the XNP/ATR-X gene. 9,10 Here, we describe three alternatively spliced transcripts, which are different in the first two exons of the XNP/ATR-X gene and lead to potential proteins differing in their NH 2 -terminal regions. Two transcripts result from the utilization of different splice donor sites within exon 1 and the third consists of an alternative splicing out of the exon 2.…”
Section: Introductionmentioning
confidence: 99%