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Mutagenesis vol. 12 no. 3 pp. 185-190, 1997
© 1997 UK Environmental Mutagen Society/Oxford University Press

research-article

Large deletions partially external to the human hyrt gene result in chimeric transcripts

M.J. Lippert2, I.R. Rainville1, J.A. Nicklas1 and R.J. Albertini1,3

1University of Vermont Genetics Laboratory 32 No. Prospect Street, Burlington, VT 05401 2Harvard School of Public Health 665 Huntington Avenue, Building I, Room 201, Boston, MA 02115, SA

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 hypoxanthineguanine 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 (-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).

3To whom correspondence should be addressed


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