title: Large deletions partially external to the human hprt gene result in chimeric transcripts.
abstract: We postulated that gene fusions sometimes occur in normal cells as a result of gene rearrangements as have been observed involving oncogene loci in tumours. To test this, we searched for fusion-gene transcripts in selected human T-lymphocyte large deletion mutations of the hypoxanthine-guanine phosphoribosyltransferase (hprt) gene using the 3' rapid amplification of cDNA ends (RACE) technique. Aberrant hprt-containing transcripts were observed in seven out of 19 mutants (approximately 36%) indicating that a surprising number of these rearrangements code for processed mRNAs. RNA splicing and polyadenylation occurred downstream of the non-deleted hprt sequence in chimeric transcripts and the majority resulted from mutants with fusions of hprt into regions containing a repetitive element (Alu, LINE or microsatellite).
authors.affiliation: University of Vermont Genetics Laboratory, Burlington 05401, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Lippert
authors.forename: I R
authors.initials: IR
authors.lastname: Rainville
authors.forename: J A
authors.initials: JA
authors.lastname: Nicklas
authors.forename: R J
authors.initials: RJ
authors.lastname: Albertini
mesh_terms: D001483:Base Sequence; D002678:Chimera / Q000235:genetics*; D003001:Cloning, Molecular; D017931:DNA Primers / Q000235:genetics; D015321:Gene Rearrangement; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics; D019105:Random Amplified Polymorphic DNA Technique; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion; D013601:T-Lymphocytes / Q000201:enzymology; D014158:Transcription, Genetic
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D007041:Hypoxanthine Phosphoribosyltransferase