Far less frequent mutations in <i>ras</i> genes than in the <i>p53</i> gene in skin tumors of xeroderma pigmentosum patients

Sato, Minoru; Nishigori, Chikako; Lu, Yi; Zghal, M.; Yagi, Takashi; Takebe, Hiraku

doi:10.1002/mc.2940110207

Cited by 51 publications

(47 citation statements)

References 26 publications

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“…The mutation rate was 38%. These results agreed with previous published results of the analysis of p53 alterations in bladder cancer from the blackfoot disease endemic area in Taiwan (Shibata et al, 1994), but were much lower than seen in UV-induced skin cancers (Sato et al, 1993;Inga, 1998). However, we could not neglect the possibility that UV may be involved in the cancer development.…”

Section: Discussionsupporting

confidence: 92%

“…Some genes, for example p53, have been found to be involved in carcinogenesis. In ultraviolet (UV)-induced skin cancer Oram et al (1994) found that p53 tumour suppressor gene mutation rate was 50%; a similar mutation rate was found by other authors (Brash et al, 1991;Sato et al, 1993;Ziegler et al, 1993;Matsumura et al, 1996). Most of the mutation types are CC→TT transitions (Lubbe et al, 1994;Nakazawa et al, 1994;Ziegler et al, 1994;Drouin et al, 1997).…”

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confidence: 53%

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Mutational spectrum of p53 gene in arsenic-related skin cancers from the blackfoot disease endemic area of Taiwan

et al. 1999

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SummaryTo understand the role of p53 tumour suppressor gene in the carcinogenesis of arsenic-related skin cancers from the blackfoot disease endemic area of Taiwan, we collected tumour samples from 23 patients with Bowen's disease, seven patients with basal cell carcinomas (BCC) and nine patients with squamous cell carcinomas (SCC). The result showed that p53 gene mutations were found in 39% of cases with Bowen's disease (9/23), 28.6% of cases with BCC (2/7) and 55.6% of cases with SCC (5/9). Most of the mutation sites were located on exon 5 and exon 8. Moreover, the results from direct sequencing indicated that missense mutations were found at codon 149 (C→T) in one case, codon 175 (G→A) in three cases, codon 273 (G→C) in three cases, codon 292 (T→A) in one case, codon 283 (G→T) in one case, codon 172 (T→C) in one case and codon 284 (C→A) in one case. In addition, silent mutations were also found in four cases. These mutations were located at codons 174, 253, 289 and 298 respectively. In immunohistochemistry analysis, p53 overexpression was found in 43.5% (10/23) of cases with Bowen's disease, 14% (1/7) of cases with BCC and 44% (4/9) of cases with SSC. These findings showed that p53 gene mutation rate in arsenic-related skin cancers from the blackfoot disease endemic area of Taiwan is high and that the mutation types are different from those in UV-induced skin cancers.

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Section: Discussionsupporting

confidence: 92%

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confidence: 53%

Mutational spectrum of p53 gene in arsenic-related skin cancers from the blackfoot disease endemic area of Taiwan

et al. 1999

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“…It is also demonstrated that sun light is associated with skin cancer and melanoma in humans (3,14,23). As shown in Table 2, in consistent with many previous studies, UVB-irradiation cannot cause the formation of DNA lesions, which are a primary factor in the development of skin cancer in mice (4,17). It is likely that, together with frequent UVB-irradiation, epidermal cells may also be unstable and an excellent target for the promotion of tumor development (8,9,24).…”

Section: Discussionsupporting

confidence: 74%

Interferon-gamma liniment protects hairless mice against ultraviolet irradiation-induced skin damage

et al. 2004

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Ultraviolet B (UVB) irradiation has been reported as one of causes of epidermal carcinoma and also one of immunosuppressive inducers associated with an up-regulated production of T helper (Th) 2-type cytokines such as interleukin-4 (IL-4) and IL-10. We investigated using a chronically UVirradiated mouse model in this study whether liniment of interferon-gamma (IFN-γ), one of Th1-type cytokines, would be able to protect against UV-induced skin damage or not. We report here for the fi rst time that liniment of IFN-γ promoted desirable skin reactions such as the inhibition of epidermal cell proliferation, the increment of soluble collagen levels and the inhibition of mast cell degranulation and that the dermal reactions after IFN-γ treatment bore resemblance to the reactions induced by UVA irradiation reported to induce Th1-type immune reactions. Thus, these results suggest that liniment of IFN-γ is effective to suppress skin damages after UV irradiation through regulation of the balance of Th1-type and Th2-type immune responses.

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“…sequences, and tandem CC to TT transitions at 5?-CC-3? sequences have also been characterized (33)(34)(35). Similar types of p53 base changes are also found in the skin tumors of sunexposed body areas, but not in skin tumors of nonexposed areas (36).…”

Section: Application Of the Shuttle Vector Plasmids To Uv Mutagenesismentioning

confidence: 80%

The Achievement of Shuttle Vector Techniques in Mammalian Cell Mutation Research

Yagi¹

2013

Genes and Environment

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Shuttle vector plasmids have made major contributions to the advancement of mutation research for the last two decades. I have been involved in the development of shuttle vector plasmids and their experimental protocols, and herein provide a chronicle of shuttle vector studies. In the late 1960s, in vitro mammalian cell culture became a common technique in cell biology. Geneticists established a method to detect gene mutation as 8-azaguanine or 6-thioguanine resistance after cells had been exposed to radiation or chemicals. The resistance of the cells was found to be due to a mutation of the hypoxanthine-guanine phosphoribosyl transferase gene; however, which base was changed in the gene remained di‹cult to determine until DNA sequencing techniques were developed. After the Sanger method of DNA sequencing became available to geneticists, the next issue was how to identify numerous base changes in mutants easily and rapidly. A breakthrough on this issue was the use of the shuttle vector plasmid pZ189, which was developed for practical applications by Seidman and colleagues. Along with the development of new molecular biology techniques such as polymerase chain reaction and automatic DNA sequencing, pZ189 has been modiˆed to several forms as adaptations to the new techniques. These shuttle vector plasmids remain useful tools to reveal what types of mutations are induced by newly identiˆed mutagens at the DNA sequence level. This article describes some of the contents of my JEMS award lecture in 2011.

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Far less frequent mutations in ras genes than in the p53 gene in skin tumors of xeroderma pigmentosum patients

Cited by 51 publications

References 26 publications

Mutational spectrum of p53 gene in arsenic-related skin cancers from the blackfoot disease endemic area of Taiwan

Mutational spectrum of p53 gene in arsenic-related skin cancers from the blackfoot disease endemic area of Taiwan

Interferon-gamma liniment protects hairless mice against ultraviolet irradiation-induced skin damage

The Achievement of Shuttle Vector Techniques in Mammalian Cell Mutation Research

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