ArticlePLoS genetics2008
An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome.
Article in PLoS genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 89 citations in OpenAlex.
- Transposable elements as instructors of the immune system.Nature reviews. Immunology · 2025Review
- Transposable Elements Drive Regulatory and Functional Innovation of F-box Genes.Molecular biology and evolution · 2025Article
- A subset of human dermal fibroblasts overexpressing Cockayne syndrome group B protein resist UVB radiation-mediated premature senescence.Aging cell · 2025Article
- Perspectives in the investigation of Cockayne syndrome group B neurological disease: the utility of patient-derived brain organoid models.Journal of Zhejiang University. Science. B · 2024Review
- Chiropterans Are a Hotspot for Horizontal Transfer of DNA Transposons in Mammalia.Molecular biology and evolution · 2023Article
- A Novel Gene Controls a New Structure: PiggyBac Transposable Element-Derived 1, Unique to Mammals, Controls Mammal-Specific Neuronal Paraspeckles.Molecular biology and evolution · 2022Article
- A novel heterozygous ERCC6 variant identified in a Chinese family with non-syndromic primary ovarian insufficiency.Molecular genetics & genomic medicine · 2022Article
- Zebrafish transposable elements show extensive diversification in age, genomic distribution, and developmental expression.Genome research · 2022Article
- Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B.Frontiers in genetics · 2022Article
- Review
- Article
- Assessing the functional relevance of splice isoforms.NAR genomics and bioinformatics · 2021Article
- Recurrent evolution of vertebrate transcription factors by transposase capture.Science (New York, N.Y.) · 2021Article
- Differential regulation of lineage commitment in human and mouse primed pluripotent stem cells by the nucleosome remodelling and deacetylation complex.Stem cell research · 2020Article
- Human SETMAR is a DNA sequence-specific histone-methylase with a broad effect on the transcriptome.Nucleic acids research · 2019Article
- Article
- Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.Molecular medicine reports · 2017Article
- Amplification of unscheduled DNA synthesis signal enables fluorescence-based single cell quantification of transcription-coupled nucleotide excision repair.Nucleic acids research · 2017Article
- Molecular Evolution of piggyBac Superfamily: From Selfishness to Domestication.Genome biology and evolution · 2017Article
- Friend or Foe: Epigenetic Regulation of Retrotransposons in Mammalian Oogenesis and Early Development.The Yale journal of biology and medicine · 2016Review
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Cockayne syndrome (CS) is a devastating progeria most often caused by mutations in the CSB gene encoding a SWI/SNF family chromatin remodeling protein. Although all CSB mutations that cause CS are recessive, the complete absence of CSB protein does not cause CS. In addition, most CSB mutations are located beyond exon 5 and are thought to generate only C-terminally truncated protein fragments. We now show that a domesticated PiggyBac-like transposon PGBD3, residing within intron 5 of the CSB gene, functions as an alternative 3' terminal exon. The alternatively spliced mRNA encodes a novel chimeric protein in which CSB exons 1-5 are joined in frame to the PiggyBac transposase. The resulting CSB-transposase fusion protein is as abundant as CSB protein itself in a variety of human cell lines, and continues to be expressed by primary CS cells in which functional CSB is lost due to mutations beyond exon 5. The CSB-transposase fusion protein has been highly conserved for at least 43 Myr since the divergence of humans and marmoset, and appears to be subject to selective pressure. The human genome contains over 600 nonautonomous PGBD3-related MER85 elements that were dispersed when the PGBD3 transposase was last active at least 37 Mya. Many of these MER85 elements are associated with genes which are involved in neuronal development, and are known to be regulated by CSB. We speculate that the CSB-transposase fusion protein has been conserved for host antitransposon defense, or to modulate gene regulation by MER85 elements, but may cause CS in the absence of functional CSB protein.
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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.