Abstract:
:A spectrum of 100 mutations in the endogenous hprt gene of the human lymphoblastoid TK6 cell line is presented. The majority of the mutations originates in sequences outside the coding region of the gene. Large deletions are a major cause of inactivation of the hprt gene (57% of the mutants). Mutations in the splice sites that result in several forms of aberrantly spliced mRNA are relatively frequently recovered (16%) compared with mutants containing alterations in the coding region of the hprt gene (27%). The majority, but not all, of the splice mutants contain an alteration in the consensus sequences of the splice sites. A spectrum of mutations in the coding region of the hprt gene enlarged to a total of 42 mutants shows that basepair substitutions predominate (71%) and that small deletions and insertions are less frequently recovered. Basepair substitutions arise slightly more frequently at GC basepairs than at AT basepairs.
journal_name
Mutagenesisjournal_title
Mutagenesisauthors
Lichtenauer-Kaligis EG,Thijssen JC,den Dulk H,van de Putte P,Giphart-Gassler M,Tasseron-de Jong JGdoi
10.1093/mutage/10.2.137subject
Has Abstractpub_date
1995-03-01 00:00:00pages
137-43issue
2eissn
0267-8357issn
1464-3804journal_volume
10pub_type
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