title: Aberrant splicing but not mutations of TSG101 in human breast cancer.
abstract: The 11p15 gene TSG101 was recently reported to undergo frequent large intragenic deletions in human breast cancer. Here we show that that is generally not the case, but the gene shows aberrant splicing, based on the following observations: identical products were observed in matching normal and fetal tissues; deleted cDNA sequence revealed canonical splicing donor and acceptor site sequences; and genomic Southern blots showed no intragenic deletions in all 72 tumors studied. Nevertheless, relaxation of RNA splicing fidelity may be an oncodevelopmental marker in cancer and may play a general role in other genes and tumors.
authors.affiliation: Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
authors.forename: M P
authors.initials: MP
authors.lastname: Lee
authors.forename: A P
authors.initials: AP
authors.lastname: Feinberg
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D001943:Breast Neoplasms / Q000235:genetics*; D002872:Chromosome Deletion; D004268:DNA-Binding Proteins / Q000235:genetics*; D056827:Endosomal Sorting Complexes Required for Transport; D006801:Humans; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D014018:Tissue Distribution; D014157:Transcription Factors / Q000235:genetics*; D000099177:Tsg101 Protein
chemical_list: D004268:DNA-Binding Proteins; D056827:Endosomal Sorting Complexes Required for Transport; D014157:Transcription Factors; D000099177:Tsg101 Protein