Somatic Histone H3 Alterations in Paediatric Diffuse Intrinsic Pontine Gliomas and Non-Brainstem Glioblastomas
By Gang Wu, A. Broniscer, T. McEachron, Charles Lu, Barbara S. Paugh, J. Becksfort, Chunxu Qu, Li Ding, R. Huether, Matthew Parker and 11 more. Nature Genetics, 2012
1,534 citations recorded by the source corpus.
To identify somatic mutations in pediatric diffuse intrinsic pontine glioma (DIPG), we performed whole-genome sequencing of DNA from seven DIPGs and matched germline tissue and targeted sequencing of an additional 43 DIPGs and 36 non-brainstem pediatric glioblastomas (non-BS-PGs). We found that 78% of DIPGs and 22% of non-BS-PGs contained a mutation in H3F3A, encoding histone H3.3, or in the related HIST1H3B, encoding histone H3.1, that caused a p.Lys27Met amino acid substitution in each protein. An additional 14% of non-BS-PGs had somatic mutations in H3F3A causing a p.Gly34Arg alteration.
Subfields: Genetics, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/e5f4bbc7dc304fc087c62d8e954c278cde46e282
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In Genetics
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- Richard K. Wilson
- Craig B. Thompson
- Elaine R. Mardis
- R. Malenka
- Chao Lu
In Molecular Biology
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Citations in the corpus
- Reduced H3K27me3 and DNA hypomethylation are major drivers of gene expression in K27M mutant pediatric high-grade gliomas. (2013, background): “3 gene H3F3A, which have been identified in 50% of cases (Schwartzentruber et al., 2012; Wu et al., 2012).”
- Metabolic regulation of epigenetics (2012, background): “Further functional characterization of these specific histone mutations will be needed to genetically link IDH mutations to histone methylation in glioma (Schwartzentruber et al., 2012; Wu et al., 2012).”
- New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs (2016, positive): “…aberrations in high-grade pediatric CNS tumors (Capper et al., 2010; Chan et al., 2013; Hasselblatt et al., 2013; Margol and Judkins, 2014; Pajtler et al., 2015; Parker et al., 2014; Schneppenheim et al., 2010; Schwartzentruber et al., 2012; Venneti et al., 2013; Wu et al., 2012; Yan et al., 2009).”
- Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma (2017, background): “…H3 mutations in the childhood setting has become increasingly clear since their unexpected discovery in 2012 (Schwartzentruber et al., 2012; Wu et al., 2012), with clear clinicopathological differences associated with distinct variants (Jones and Baker, 2014; Jones et al., 2016; Sturm et…”
- Neuronal Activity Promotes Oligodendrogenesis and Adaptive Myelination in the Mammalian Brain (2014, background): “in histone H3 that may prevent effective control of such proliferation (54, 55).”
- The histone H3.3K27M mutation in pediatric glioma reprograms H3K27 methylation and gene expression. (2013, positive): “3K27M) (Schwartzentruber et al. 2012; Sturm et al. 2012; Wu et al. 2012) in 60% of DIPG.”
- Histone Lysine Methylation Dynamics: Establishment, Regulation, and Biological Impact (2012, positive): “Furthermore, somatic mutations in H3K27 have been observed in some gliomas, suggesting this lysine residue might be important in cancer (Khuong-Quang et al., 2012; Schwartzentruber et al., 2012; Wu et al., 2012).”
- The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma (2014, background): “The mapping results from (2) to (4) were aligned to human reference genome coordinates.”
- Neuronal Activity Promotes Glioma Growth through Neuroligin-3 Secretion (2015, background): “…thalamic HGGs typically occurring inmid-childhood, cortical gliomas of childhood occurring in older children and young adults, and HGG of later adulthood occurring chiefly in the frontotemporal lobes (Khuong-Quang et al., 2012; Schwartzentruber et al., 2012; Sturm et al., 2012; Wu et al., 2012).”
- Glioblastoma: pathology, molecular mechanisms and markers (2015, background): “3-alpha-thalassemia X-linked mental retardation protein (ATRX)–death domain-associated protein (DAXX) chromatin remodeling pathway that lead to changes in the chromatin architecture and play a major role in pediatric GBM pathogenesis in approximately 44 % of tumors [145, 180].”
- Glioma Subclassifications and Their Clinical Significance (2017, background): “3 proteins, encoded by theHIST1H3B andH3F3A genes, respectively [33, 34].”