ArticlePloS one2010
Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers.
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Who cites it
73 citing papers in PubMed, 115 citations in OpenAlex.
- The cytoskeleton contributes to abnormal genome-lamina interactions in LMNA-deficient cardiomyocytes.The Journal of cell biology · 2026Article
- The dual guardians of cellular stability: exploring nesprin and lamin in senescence.Cell death & disease · 2025Review
- Role of Nuclear Lamins in the Regulation of the Genome: Focus on CardioLaminopathy.Sub-cellular biochemistry · 2025Review
- Discovery of therapeutic targets in cardiovascular diseases using high-throughput chromosome conformation capture (Hi-C).Frontiers in genetics · 2025Review
- Mechanobiology of the nucleus during the G2-M transition.Nucleus (Austin, Tex.) · 2024Review
- Brooklyn plots to identify co-expression dysregulation in single cell sequencing.NAR genomics and bioinformatics · 2024Article
- Epigenetics inCells · 2023Review
- Nuclear mechanosignaling in striated muscle diseases.Frontiers in physiology · 2023Review
- Aberrant chromatin organization at the nexus of laminopathy disease pathways.Nucleus (Austin, Tex.) · 2022Review
- Personalized Medicine Approach in a DCM Patient withJournal of personalized medicine · 2022Article
- A genome-wide gene-based gene-environment interaction study of breast cancer in more than 90,000 women.Cancer research communications · 2022Article
- The Nuclear Lamina.Cold Spring Harbor perspectives in biology · 2022Review
- Genome organization in cardiomyocytes expressing mutated A-type lamins.Frontiers in cell and developmental biology · 2022Review
- The Nuclear Envelope as a Regulator of Immune Cell Function.Frontiers in immunology · 2022Review
- The Role of Emerin in Cancer Progression and Metastasis.International journal of molecular sciences · 2021Review
- Telomere Distribution in Human Sperm Heads and Its Relation to Sperm Nuclear Morphology: A New Marker for Male Factor Infertility?International journal of molecular sciences · 2021Article
- Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genes.Cell stem cell · 2021Article
- The shifting shape of genomes: dynamics of heterochromatin interactions at the nuclear lamina.Current opinion in genetics & development · 2021Review
- Three-dimensional chromatin organization in cardiac development and disease.Journal of molecular and cellular cardiology · 2021Review
- Nucleus-Cytoskeleton Crosstalk During Mitotic Entry.Frontiers in cell and developmental biology · 2021Review
13 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundLamins A and C, encoded by the LMNA gene, are filamentous proteins that form the core scaffold of the nuclear lamina. Dominant LMNA gene mutations cause multiple human diseases including cardiac and skeletal myopathies. The nuclear lamina is thought to regulate gene expression by its direct interaction with chromatin. LMNA gene mutations may mediate disease by disrupting normal gene expression. METHODS/
findingsTo investigate the hypothesis that mutant lamin A/C changes the lamina's ability to interact with chromatin, we studied gene misexpression resulting from the cardiomyopathic LMNA E161K mutation and correlated this with changes in chromosome positioning. We identified clusters of misexpressed genes and examined the nuclear positioning of two such genomic clusters, each harboring genes relevant to striated muscle disease including LMO7 and MBNL2. Both gene clusters were found to be more centrally positioned in LMNA-mutant nuclei. Additionally, these loci were less compacted. In LMNA mutant heart and fibroblasts, we found that chromosome 13 had a disproportionately high fraction of misexpressed genes. Using three-dimensional fluorescence in situ hybridization we found that the entire territory of chromosome 13 was displaced towards the center of the nucleus in LMNA mutant fibroblasts. Additional cardiomyopathic LMNA gene mutations were also shown to have abnormal positioning of chromosome 13, although in the opposite direction.
conclusionsThese data support a model in which LMNA mutations perturb the intranuclear positioning and compaction of chromosomal domains and provide a mechanism by which gene expression may be altered.
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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.