ArticleProceedings of the National Academy of Sciences of the United States of America2004
Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignancies.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 27 papers.
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27 citing papers in PubMed, 76 citations in OpenAlex.
- Integrating bioinformatics and machine learning to discover sumoylation associated signatures in sepsis.Scientific reports · 2025Article
- Construction and validation of a chromatin regulator-related gene signature for prognostic and therapeutic significance of clear cell renal cell carcinoma.Translational cancer research · 2024Article
- Genomic map of candidate human imprint control regions: the imprintome.Epigenetics · 2022Article
- Evolution of the Short Form of DNMT3A, DNMT3A2, Occurred in the Common Ancestor of Mammals.Genome biology and evolution · 2022Article
- Effect of L3MBTL3/PTPN9 polymorphisms on risk to alcohol-induced ONFH in Chinese Han population.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in aFrontiers in immunology · 2022Article
- Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.The Journal of clinical investigation · 2019Article
- Retrospective screening of microarray data to identify candidate IFN-inducible genes in a HTLV-1 transformed model.Oncology letters · 2018Article
- Data-Driven Methods for Advancing Precision Oncology.Current pharmacology reports · 2018Article
- Effects of Cadmium Exposure on DNA Methylation at Imprinting Control Regions and Genome-Wide in Mothers and Newborn Children.Environmental health perspectives · 2018Article
- Parent of origin gene expression in a founder population identifies two new candidate imprinted genes at known imprinted regions.PloS one · 2018Article
- Mosaic chromosome 20q deletions are more frequent in the aging population.Blood advances · 2017Article
- Review
- Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes.Journal of medical genetics · 2014Article
- Genome-wide histone state profiling of fibroblasts from the opossum, Monodelphis domestica, identifies the first marsupial-specific imprinted gene.BMC genomics · 2014Article
- DNMT1 and AIM1 Imprinting in human placenta revealed through a genome-wide screen for allele-specific DNA methylation.BMC genomics · 2013Article
- Cooperativity of imprinted genes inactivated by acquired chromosome 20q deletions.The Journal of clinical investigation · 2013Article
- A genome-wide approach reveals novel imprinted genes expressed in the human placenta.Epigenetics · 2012Article
- Convergent and divergent evolution of genomic imprinting in the marsupial Monodelphis domestica.BMC genomics · 2012Article
- Mammalian genomic imprinting.Cold Spring Harbor perspectives in biology · 2011Review
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
L3MBTL encodes a member of the Polycomb family of proteins, which, together with Trithorax group proteins, is responsible for the coordinated regulation of patterns of gene activity. Members of the Polycomb family also regulate self renewal of normal and malignant hematopoietic stem cells. L3MBTL lies in a region of chromosome 20, deletion of which is associated with myeloid malignancies and represents a good candidate for a 20q target gene. However, mutations of L3MBTL have not been identified in patients with 20q deletions or in cytogenetically normal patients. Here we demonstrate that monoallelic methylation of two CpG islands correlates with transcriptional silencing of L3MBTL, and that L3MBTL transcription occurs from the paternally derived allele in five individuals from two families. Expression of the paternally derived allele was observed in multiple hematopoietic cell types as well as in bone marrow derived mesenchymal cells. Deletions of 20q associated with myeloid malignancies resulted in loss of either the unmethylated or methylated allele. Our results demonstrate that L3MBTL represents a previously undescribed imprinted locus, a vertebrate Polycomb group gene shown to be regulated by this mechanism, and has implications for the pathogenesis of myeloid malignancies associated with 20q deletions.
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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.