ArticleAmerican journal of human genetics2008
ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs.
Article in American journal of human genetics, 2008. 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 30 papers.
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Who cites it
30 citing papers in PubMed, 50 citations in OpenAlex.
- Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family.Journal of human genetics · 2018Trial
- Association of OX40L polymorphisms with sporadic breast cancer in northeast Chinese Han population.PloS one · 2012Trial
- DNA damage response associated miRNA dysregulation in Ataxia-telangiectasia.Molecular biology reports · 2026Article
- Exome Sequencing and Molecular Modeling Reveal Novel Loci in Familial Multiple Sclerosis: The Importance of BTNL3 and BTNL8 in Disease Pathogenesis.Molecular neurobiology · 2025Article
- Mapping the non-coding RNA landscape in ataxia telangiectasia: a scoping review of ATM dependent miRNA and lncRNA dysregulation.Molecular biology reports · 2025Article
- Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses.European journal of rheumatology · 2019Article
- Emerging Perspectives on DNA Double-strand Breaks in Neurodegenerative Diseases.Current neuropharmacology · 2019Review
- Inflammation, a significant player of Ataxia-Telangiectasia pathogenesis?Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2018Review
- Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection.Genome research · 2018Article
- Associations between the MDM2 promoter P1 polymorphism del1518 (rs3730485) and incidence of cancer of the breast, lung, colon and prostate.Oncotarget · 2016Article
- Loss of ATM accelerates pancreatic cancer formation and epithelial-mesenchymal transition.Nature communications · 2015Article
- Cardio-miRNAs and onco-miRNAs: circulating miRNA-based diagnostics for non-cancerous and cancerous diseases.Frontiers in cell and developmental biology · 2014Review
- miR-125b targets erythropoietin and its receptor and their expression correlates with metastatic potential and ERBB2/HER2 expression.Molecular cancer · 2013Article
- Gene expression signatures but not cell cycle checkpoint functions distinguish AT carriers from normal individuals.Physiological genomics · 2013Article
- ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response.PLoS genetics · 2013Article
- Pro-oxidant induced DNA damage in human lymphoblastoid cells: homeostatic mechanisms of genotoxic tolerance.Toxicological sciences : an official journal of the Society of Toxicology · 2012Article
- Regulation of a truncated form of tropomyosin-related kinase B (TrkB) by Hsa-miR-185* in frontal cortex of suicide completers.PloS one · 2012Article
- MicroRNAs in mutagenesis, genomic instability, and DNA repair.Seminars in oncology · 2011Review
- miR-125b, a target of CDX2, regulates cell differentiation through repression of the core binding factor in hematopoietic malignancies.The Journal of biological chemistry · 2011Article
- Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.American journal of human genetics · 2011Article
Corrections and comments
- Erratum issued
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
The defining characteristic of recessive disorders is the absence of disease in heterozygous carriers of the mutant alleles. However, it has been recognized that recessive carriers may differ from noncarriers in some phenotypes. Here, we studied ataxia telangiectasia (AT), a classical recessive disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. We compared the gene and microRNA expression phenotypes of noncarriers, AT carriers who have one copy of the ATM mutations, and AT patients with two copies of ATM mutations. We found that some phenotypes are more similar between noncarriers and AT carriers compared to AT patients, as expected for a recessive disorder. However, for some expression phenotypes, AT carriers are more similar to the patients than to the noncarriers. Analysis of one of these expression phenotypes, TNFSF4 level, allowed us to uncover a regulatory pathway where ATM regulates TNFSF4 expression through MIRN125B (also known as miR-125b or miR125b) [corrected] In AT carriers and AT patients, this pathway is disrupted. As a result, the level of MIRN125B is lower and the level of its target gene, TNFSF4, is higher than in noncarriers. A decreased level of MIRN125B is associated with breast cancer, and an elevated level of TNFSF4 is associated with atherosclerosis. Thus, our findings provide a mechanistic suggestion for the increased risk of breast cancer and heart disease in AT carriers. By integrating molecular and computational analyses of gene and microRNA expression, we show the complex consequences of a human gene mutation.
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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.