Abstract
Tumor-associated alternative RNA splicing has gained considerable attention. We identified a novel alternative splice variant RNA of actinin-4 in human small cell lung cancer (SCLC). Expression of the splice variant was highly specific to SCLC cell lines (10/10), biopsies (3/3), and testis. The variant encoded a peptide with a three amino-acid change in exon 8, where the germline missense mutation takes place in familial focal segmental glomerulosclerosis (FSGS). The variant protein showed high affinity to filamentous actin polymers and was not localized with cortical actin. Alternatively spliced actinin-4 may be a new diagnostic marker of SCLC and a candidate target for selective therapy.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Actinin / chemistry
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Actinin / genetics*
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Actinin / metabolism
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Actins / metabolism
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Alternative Splicing*
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Amino Acid Sequence
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Amino Acid Substitution
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Base Sequence
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Biomarkers, Tumor
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Biopsy
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Carcinoma, Small Cell / genetics*
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Carcinoma, Small Cell / pathology
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Cell Line, Tumor
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Exons
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Genetic Variation*
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Green Fluorescent Proteins
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Humans
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Luminescent Proteins / metabolism
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Lung Neoplasms / genetics*
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Lung Neoplasms / pathology
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Male
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Molecular Sequence Data
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Recombinant Fusion Proteins / metabolism
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Sensitivity and Specificity
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Sequence Homology, Amino Acid
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Stress Fibers / metabolism
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Testis / metabolism
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Tissue Distribution
Substances
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Actins
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Biomarkers, Tumor
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Luminescent Proteins
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Recombinant Fusion Proteins
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Actinin
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Green Fluorescent Proteins