Chromosome rearrangements in normal fibroblasts from xeroderma pigmentosum homozygotes and heterozygotes

Casati, Alessandra; Stefanini, Miria; Giorgi, R.; Ghetti, P; Nuzzo, Fiorella

doi:10.1016/0165-4608(91)90014-l

Cited by 17 publications

(21 citation statements)

References 22 publications

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“…On the other hand, heteroallelic flies carrying any mrn allele and the EP3605 transposon are semilethal, with the penetrance of the lethality depending on the heteroallelic combination. In mrn 5 /EP3605 flies, only 5% of the expected class survives, while in mrn 3 /EP3605 flies, 80% of the expected class of flies develop into adults; in both cases, the adults are sterile (Fig. 1B).…”

Section: Resultsmentioning

confidence: 99%

“…To perform the complementation test, crosses were performed between the different alleles, including mrn 1 , mrn 3 , mrn 5 red e/TM6B, EP3605, and EP0572/TM6B. Then, the total number of progeny was determined, and the attended class (genotype) was calculated considering the media of the two major classes observed.…”

Section: Methodsmentioning

confidence: 99%

“…Heteroallelic EP3605/mrn 1 , mrn 3 , and mrn 5 and heterozygous EP3605/ϩ organisms were used to obtain mitotic chromosomes from larval neuroblasts following the protocol reported previously (46). Briefly, the brains were dissected in 0.7% sodium chloride and incubated with colchicine for 30 min.…”

Section: Methodsmentioning

confidence: 99%

“…Third-instar red e/TM6B, mrn 1 , mrn 3 , and mrn 5 red e/TM6B and EP3605/TM6B larvae were irradiated at different UVB light intensities (joules/m 2 ) using a UV stratalinker 2400 (Stratagene). Then, the larvae were allowed to develop into adults, and the emerged population was counted.…”

Section: Methodsmentioning

confidence: 99%

“…Production of recombinant hp52 baculoviruses. Mutations in the hp52 cDNA were introduced using a site-directed mutagenesis method (36): for mrn 5 , a change of A 229 to T (K77/stop); for the mrn 3 allele, a change of C 604 to T (Q202/stop); and for mrn 1 , a change of G 928 to A (E310K). New synthetic mutants ware generated by changing G 928 to A plus CG 940 and 941 to GA (E310K/R314D), GC 940 to GA (R314D), and A 929 to G (E310G).…”

Section: Methodsmentioning

confidence: 99%

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DNA Repair and Transcriptional Deficiencies Caused by Mutations in the Drosophila p52 Subunit of TFIIH Generate Developmental Defects and Chromosome Fragility

Fregoso

Lainé

Aguilar-Fuentes

et al. 2007

Molecular and Cellular Biology

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The transcription and DNA repair factor TFIIH is composed of 10 subunits. Mutations in the XPB, XPD, and p8 subunits are genetically linked to human diseases, including cancer. However, no reports of mutations in other TFIIH subunits have been reported in higher eukaryotes. Here, we analyze at genetic, molecular, and biochemical levels the Drosophila melanogaster p52 (DMP52) subunit of TFIIH. We found that DMP52 is encoded by the gene marionette in Drosophila and that a defective DMP52 produces UV light-sensitive flies and specific phenotypes during development: organisms are smaller than their wild-type siblings and present tumors and chromosomal instability. The human homologue of DMP52 partially rescues some of these phenotypes. Some of the defects observed in the fly caused by mutations in DMP52 generate trichothiodystrophy and cancer-like phenotypes. Biochemical analysis of DMP52 point mutations introduced in human p52 at positions homologous to those of defects in DMP52 destabilize the interaction between p52 and XPB, another TFIIH subunit, thus compromising the assembly of the complex. This study significantly extends the role of p52 in regulating XPB ATPase activity and, consequently, both its transcriptional and nucleotide excision repair functions.

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Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

See 3 more Smart Citations

DNA Repair and Transcriptional Deficiencies Caused by Mutations in the Drosophila p52 Subunit of TFIIH Generate Developmental Defects and Chromosome Fragility

Fregoso

Lainé

Aguilar-Fuentes

et al. 2007

Molecular and Cellular Biology

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Chromosomal fragility in the cancer-prone disease xeroderma pigmentosum preferentially involves bands relevant for cutaneous carcinogenesis

et al. 1997

Self Cite

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Spontaneous and folate‐induced chromosomal fragility was analyzed in peripheral blood lymphocytes from 6 patients affected by the cancer‐prone disease xeroderma pigmentosum (XP), from the parents of 4 of the patients, and from 12 normal subjects. All XP patients were defective in nucleotide‐excision repair; 4 belonged to group C and 1 each to groups A and D. A tendency toward increased spontaneous chromosomal fragility was observed in the XP family members, and lesions indicating substantial chromosomal damage, which were not observed in any healthy donors, were frequently found. The spontaneous lesion sites in lymphocytes from homozygous and heterozygous carriers of XP defects appeared to be significantly associated with those observed in normal skin fibroblasts from the same subjects. These XP spontaneous fragility sites showed a statistically significant association with the rearrangement breakpoints reported in skin pre‐tumoral and tumoral lesions from normal and unrelated XP donors. Under conditions of folate deprivation, the chromosomal fragility level, the pattern and the frequency of expression of fragile sites in XP patients and in their parents were similar to normal. However, XP patients generally showed a higher susceptibility to breakage at sites described as mutagen and carcinogen targets. Int. J. Cancer 74:654–663, 1997.© 1997 Wiley‐Liss, Inc.

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Mutations inRAD3, MSH2, andRAD52 affect the rate of gene amplification in the yeastSaccharomyces cerevisiae

Peterson

Kordich

Milligan

et al. 2000

Environ. Mol. Mutagen.

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Chromosome rearrangements in normal fibroblasts from xeroderma pigmentosum homozygotes and heterozygotes

Cited by 17 publications

References 22 publications

DNA Repair and Transcriptional Deficiencies Caused by Mutations in the Drosophila p52 Subunit of TFIIH Generate Developmental Defects and Chromosome Fragility

DNA Repair and Transcriptional Deficiencies Caused by Mutations in the Drosophila p52 Subunit of TFIIH Generate Developmental Defects and Chromosome Fragility

Chromosomal fragility in the cancer-prone disease xeroderma pigmentosum preferentially involves bands relevant for cutaneous carcinogenesis

Mutations inRAD3, MSH2, andRAD52 affect the rate of gene amplification in the yeastSaccharomyces cerevisiae

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