ArticleThe Journal of clinical investigation2013
Cooperativity of imprinted genes inactivated by acquired chromosome 20q deletions.
Article in The Journal of clinical investigation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 40 citations in OpenAlex.
- Clonal expansion mechanisms in paroxysmal nocturnal hemoglobinuria.International journal of hematology · 2026Review
- Allelic expression patterns of imprinted and non-imprinted genes in cancer cell lines from multiple histologies.Clinical epigenetics · 2025Article
- Increased copy number of imprinted genes in the chromosomal region 20q11-q13.32 is associated with resistance to antitumor agents in cancer cell lines.Clinical epigenetics · 2022Article
- Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in aFrontiers in immunology · 2022Article
- Biosynthesis and biology of mammalian GPI-anchored proteins.Open biology · 2020Review
- Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.The Journal of clinical investigation · 2019Article
- Hippo kinase loss contributes to del(20q) hematologic malignancies through chronic innate immune activation.Blood · 2019Article
- Hemopoietic Cell Kinase amplification with Protein Tyrosine Phosphatase Receptor T depletion leads to polycythemia, aberrant marrow erythoid maturation, and splenomegaly.Scientific reports · 2019Article
- Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors.Nature communications · 2017Article
- Deletion of Ptpn1 induces myeloproliferative neoplasm.Leukemia · 2017Article
- Mosaic chromosome 20q deletions are more frequent in the aging population.Blood advances · 2017Article
- Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.Nature communications · 2016Article
- Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus.Leukemia · 2015Article
- Review
- Germline and somatic imprinting in the nonhuman primate highlights species differences in oocyte methylation.Genome research · 2015Article
- The polycomb group protein L3MBTL1 represses a SMAD5-mediated hematopoietic transcriptional program in human pluripotent stem cells.Stem cell reports · 2015Article
- Epigenetics of myelodysplastic syndromes.Leukemia · 2014Review
- Array comparative genomic hybridization and sequencing of 23 genes in 80 patients with myelofibrosis at chronic or acute phase.Haematologica · 2014Article
Corrections and comments
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Authors and funding
21 authors at 6 institutions in 5 countries.
Funding
Abstract
Large regions of recurrent genomic loss are common in cancers; however, with a few well-characterized exceptions, how they contribute to tumor pathogenesis remains largely obscure. Here we identified primate-restricted imprinting of a gene cluster on chromosome 20 in the region commonly deleted in chronic myeloid malignancies. We showed that a single heterozygous 20q deletion consistently resulted in the complete loss of expression of the imprinted genes L3MBTL1 and SGK2, indicative of a pathogenetic role for loss of the active paternally inherited locus. Concomitant loss of both L3MBTL1 and SGK2 dysregulated erythropoiesis and megakaryopoiesis, 2 lineages commonly affected in chronic myeloid malignancies, with distinct consequences in each lineage. We demonstrated that L3MBTL1 and SGK2 collaborated in the transcriptional regulation of MYC by influencing different aspects of chromatin structure. L3MBTL1 is known to regulate nucleosomal compaction, and we here showed that SGK2 inactivated BRG1, a key ATP-dependent helicase within the SWI/SNF complex that regulates nucleosomal positioning. These results demonstrate a link between an imprinted gene cluster and malignancy, reveal a new pathogenetic mechanism associated with acquired regions of genomic loss, and underline the complex molecular and cellular consequences of "simple" cancer-associated chromosome deletions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.