Karyotypic abnormality of the X chromosome is rare in mutant HPRT− lymphocyte clones

Muir, Pauline D.; Osborne, Yvonne; Morley, Alexander A.; Turner, David R.

doi:10.1016/0027-5107(88)90152-2

Cited by 16 publications

(2 citation statements)

References 9 publications

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“…Standard cytogenetic analysis would only have identified the translocation and probably one of the microdeletions (mutant R48). We suspect that failure to detect changes in some previous studies was in part due to the type of mutant examined, i.e., those not having total HPRT gene dele tions, and to the level of cytogenetic analysis used (Turner et al" 1985;Muir et al, 1988).…”

Section: Discussionmentioning

confidence: 83%

High-resolution cytogenetic analysis of X-ray induced mutations of the HPRT gene of primary human fibroblasts

Simpson¹,

Morris²,

Savage³

et al. 1993

Cytogenet Genome Res

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We report cytogenetic analysis of X-ray induced mutants of the HPRT gene isolated from a primary human fibroblast line. The mutants were shown previously by molecular analysis to have total or partial HPRT gene deletions. Detailed analysis of the chromosomal region containing HPRT (the cytogenetic band Xq26) identified Xq26 aberrations in five of five total HPRT gene deletions but failed to detect any changes in two of two partial gene deletions. Four microdeletions were verified and quantified by a method termed the band ratio, which compares the distance between bands encompassing Xq26 and an adjacent X-chromosome region in elongated chromosomes. These measurements were supported by the presence or absence of the sub-band Xq26.2. One total HPRT gene deletion was also associated with an X; 11 translocation involving band Xq26. The data strengthen earlier findings on the tolerance of the Xq26 region to large genetic changes (>1 Mb), but also indicate that some mutations are more complex than simple deletion of DNA sequence.

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Section: Discussionmentioning

confidence: 83%

High-resolution cytogenetic analysis of X-ray induced mutations of the HPRT gene of primary human fibroblasts

Simpson¹,

Morris²,

Savage³

et al. 1993

Cytogenet Genome Res

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“…The types of mutation studied are shown in Table 1. Chromosomal mutation affecting the HPRT locus at Xq26 still has not been detected in any of more than 100 human Tcell mutants studied (27,28), and this type of mutation will not be further discussed here.…”

Section: Methodsmentioning

confidence: 99%

Mutations induced in the hypoxanthine phosphoribosyl transferase gene by three urban air pollutants: acetaldehyde, benzo[a]pyrene diolepoxide, and ethylene oxide.

Lambert

Andersson

Bastlová

et al. 1994

Environ Health Perspect

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Provisional mutational spectra at the hypoxanthine phosphoribosyl transferase (HPRT) locus in vitro have been worked out for acetaldehyde (AA) and benzo[alpyrene diolepoxide (BPDE) in human (T)-lymphocytes and for ethylene oxide (EtO) in human diploid fibroblasts using Southern blotting and polymerase chain reaction (PCR)-based DNA sequencing techniques. The results indicate that large genomic deletions are the predominating hprt mutations caused by AA and EO, whereas BPDE induces point mutations that are mainly GC>TA transversions. The mutational spectra induced by the three agents are clearly different from the background spectrum in human T-cells. Thus, the hprt locus is a useful target for the study of chemical-specific mutational events that may help identify causes of background mutation in human cells in vivo. -Environ Health Perspect 102(Suppl 4): 135-138 (1994).

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Cytogenetic analysis of spontaneous and 2‐cyanoethylene oxide‐induced tk —/— mutants in TK6 human lymphoblastoid cultures

Kodama

Boreiko

Skopek

et al. 1989

Environ and Mol Mutagen

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Two phenotypic classes of selectable tk-/- mutants have been isolated from the TK6 human lymphoblast cell line; one has a normal growth rate (tkn) relative to the parental cell line; the other has a slow growth rate (tks). Complete karyotypes of metaphase chromosomes were prepared and analyzed from 16 tks mutants (eight spontaneous and eight 2-cyanoethylene oxide [CNEtO]-induced), two spontaneous tkn mutants, and the parental TK6 cell line. Southern blot analysis of these tk-/- mutants indicated that all had lost a 14.8 kb polymorphic band corresponding to the active tk allele. No chromosome abnormalities with respect to the parental cell line TK6 were observed in eight spontaneous tks mutants. Chromosome abnormalities that may have been related to CNEtO treatment were observed in four of eight CNEtO mutants. However, chromosome 17, containing the tk locus in man, was cytologically normal with respect to the parental TK6 cell line in 15 of 16 tks mutants. A visible abnormality of chromosome 17 was present in one CNEtO-induced tks mutant. The abnormality was a duplication of the long arm of the chromosome 17, with break points at q11 and q21. The latter break point is close to the site of the tk locus, suggesting that the aberration observed may be associated with tk-/- phenotype. These observations contrast with the relatively high incidence (greater than or equal to 59%) of chromosome 11 abnormalities reported in tks (small colony) mouse lymphoma L5178Y/TK +/- mutants.

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Karyotypic abnormality of the X chromosome is rare in mutant HPRT− lymphocyte clones

Cited by 16 publications

References 9 publications

High-resolution cytogenetic analysis of X-ray induced mutations of the HPRT gene of primary human fibroblasts

High-resolution cytogenetic analysis of X-ray induced mutations of the HPRT gene of primary human fibroblasts

Mutations induced in the hypoxanthine phosphoribosyl transferase gene by three urban air pollutants: acetaldehyde, benzo[a]pyrene diolepoxide, and ethylene oxide.

Cytogenetic analysis of spontaneous and 2‐cyanoethylene oxide‐induced tk —/— mutants in TK6 human lymphoblastoid cultures

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