ArticlePloS one2013
Germline allele-specific expression of DAPK1 in chronic lymphocytic leukemia.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 24 citations in OpenAlex.
- Recombination affects allele-specific expression of deleterious variants in human populations.Science advances · 2022Article
- Introns control stochastic allele expression bias.Nature communications · 2021Article
- Genome-Wide Allele-Specific Expression in Obligately Asexual Daphnia pulex and the Implications for the Genetic Basis of Asexuality.Genome biology and evolution · 2021Article
- Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.Ophthalmology · 2020Article
- Epigenetic and Posttranscriptional Regulation of CD16 Expression during Human NK Cell Development.Journal of immunology (Baltimore, Md. : 1950) · 2018Article
- A Genome-Wide Study of Allele-Specific Expression in Colorectal Cancer.Frontiers in genetics · 2018Article
- RNA-Seq Analyses Identify Frequent Allele Specific Expression and No Evidence of Genomic Imprinting in Specific Embryonic Tissues of Chicken.Scientific reports · 2017Article
- Increased incidence of bladder cancer, lymphoid leukaemia, and myeloma in a cohort of Queensland melanoma families.Familial cancer · 2016Article
- ASEQ: fast allele-specific studies from next-generation sequencing data.BMC medical genomics · 2015Article
- Genetic basis of continuous variation in the levels and modular inheritance of pigmentation in cichlid fishes.Molecular ecology · 2014Article
- Hypermethylation of DAPK1 is an independent prognostic factor predicting survival in diffuse large B-cell lymphoma.Oncotarget · 2014Article
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
We previously reported a rare germline variant (c.1-6531) that resulted in allele-specific expression (ASE) of death-associated protein kinase 1 (DAPK1) and predisposition to chronic lymphocytic leukemia (CLL). We investigated a cohort of CLL patients lacking this mutation for the presence of ASE of DAPK1. We developed a novel strategy that combines single-nucleotide primer extension (SNuPE) with MALDI-TOF mass spectrometry, and detected germline DAPK1 ASE in 17 out of 120 (14.2%) CLL patients associated with a trend towards younger age at diagnosis. ASE was absent in 63 healthy controls. Germline cells of CLL patients with ASE showed increased levels of DNA methylation in the promoter region, however, neither genetic nor further epigenetic aberrations could be identified in the DAPK1 5' upstream regulatory region, within distinct exons or in the 3'-UTR. We identified B-lymphoid malignancy related cell line models harboring allelic imbalance and found that allele-specific methylation in DAPK1 is associated with ASE. Our data indicate that ASE at the DAPK1 gene locus is a recurrent event, mediated by epigenetic mechanisms and potentially predisposing to CLL.
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