Absence of DNA Repair Deficiency in the Confirmed Heterozygotes of Xeroderma Pigmentosum Group A

Moriwaki, Shinichi; Nishigori, Chikako; Teramoto, Tatsuyuki; Tanaka, Toshihiro; Kore-Eda, Satoshi; Takebe, Hiraku; Imamura, Sadao

doi:10.1111/1523-1747.ep12360046

Cited by 22 publications

(15 citation statements)

References 8 publications

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“…and CSB showed hypersensitivities to 4NQO (Walker, 1981;Dollery et al, 1983;Edwards et al, 1987;Moriwaki et al, 1993;Prince et al, 1999;Muftuoglu et al, 2002). However, our data suggested that the hypersensitivity of ∆GCN5 against 4NQO is not caused by down-regulation of these genes.…”

Section: Discussioncontrasting

confidence: 61%

“…4NQO-induced DNA lesions are mainly repaired by GGR (Snyderwine and Bohr, 1992), while pyrimidine dimers, the most abundant UV-induced DNA lesions, are principally repaired by TCR (Mellon et al, 1987). Several cell lines derived from patients of xeroderma pigmentosum (XP) and Cockayne syndrome group B (CSB), autosomal recessive inherited disorders with NER inactivation, showed hypersensitivity to 4NQO (Walker, 1981;Dollery et al, 1983;Edwards et al, 1987;Moriwaki et al, 1993;Prince et al, 1999;Muftuoglu et al, 2002). In addition, cells from patients of two types of RecQ helicase-deficiency diseases, Werner syndrome and Bloom syndrome, were also remarkably sensitive to 4NQO (Prince et al, 1999;Imamura et al, 2002;Miao et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

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GCN5-deficiency remarkably enhances the sensitivity of B cells in response to 4-nitroquinoline 1-oxide

Kikuchi

Kuribayashi

Mimuro

et al. 2016

Fundam. Toxicol. Sci.

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-A typical DNA-damaging agent 4-nitroquinoline 1-oxide (4NQO) is known as an experimental oral carcinogen. Although 4NQO was initially characterized as a UV-mimetic agent, it shows more complex effects inducing production of various covalent adducts, oxidative damage and DNA single strand break in DNA. To understand roles of histone acetyltransferase GCN5, which protects cells against UV-irradiation, on repair of 4NQO-induced DNA damage, we studied the sensitivity of chicken homozygous DT40 mutants, ∆GCN5, against 4NQO. After 4NQO treatment, the viability of ∆GCN5 was appreciably reduced (to ~25% at 6 hr) as compared to that of wild type DT40. Semiquantitative RT-PCR showed that transcription of DNA polymerase η (POLH) gene whose deficiency is responsible for a variant form of xeroderma pigmentosum was drastically down-regulated in ∆GCN5 (to ~25%). However, overexpression of POLH could not rescue ∆GCN5 from the enhanced sensitivity to 4NQO, unlike UV-irradiation. Our data suggested that GCN5 participates in control of the sensitivity against 4NQO, and the molecular mechanisms of GCN5-mediated repair of the 4NQO-induced DNA lesions are highly complex.

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Section: Discussioncontrasting

confidence: 61%

Section: Introductionmentioning

confidence: 99%

GCN5-deficiency remarkably enhances the sensitivity of B cells in response to 4-nitroquinoline 1-oxide

Kikuchi

Kuribayashi

Mimuro

et al. 2016

Fundam. Toxicol. Sci.

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“…[7][8][9][10][11][12] In Tunisia, although no precise epidemiological data are available, XP is suspected to be relatively frequent because of the high rate of consanguinity and endogamy. The frequency of the disease was estimated to be 1 in 10 000.…”

Section: Discussionmentioning

confidence: 99%

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family

Messaoud

Rekaya

Kéfi

et al. 2010

British Journal of Dermatology

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Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. The disease is classified into eight groups. Among them, XP group A (XP-A) is characterized by the presence of neurological abnormalities in addition to cutaneous symptoms. In the present study, we report a particular family with XP-A in which some members showed an atypical clinical presentation, i.e. unexplained neurological abnormalities with discrete skin manifestations. Molecular investigation allowed identification of a novel XPA mutation and complete phenotype-genotype correlation for this new phenotypic expression of XP-A.

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“…A ®broblast cell line, designated MI, was established from a skin biopsy specimen obtained from the patient. DNA repair tests, such as the measurement of UVinduced unscheduled DNA synthesis and post-UV cell survival, were performed with a germicidal lamp emitting predominantly 254-nm light (GL10, Toshiba Electric, Japan) as described previously [Moriwaki et al, 1993]. As a result, the MI ®broblasts were more sensitive to killing by UV irradiation at 10 J/m 2 than normal ®broblasts (N-3), the difference being statistically signi®cant (P 0.001, Student's t-test).…”

Section: Dna Repair Studiesmentioning

confidence: 99%

Woman with UV hypersensitivity and a de novo unbalanced chromosome translocation

et al. 2001

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We report a Japanese woman with de novo 6p monosomy and 10q trisomy [46,XX,der(6)t(6;10)(p25.1;q25.2)] whose clinical manifestations resemble those of xeroderma pigmentosum (XP) and Cockayne syndrome (CS), known as premature aging syndromes. She had a history of easy sunburning and presented a number of freckles and hypopigmented spots on her face as those of XP. Magnetic resonance imaging and computed tomography scanning demonstrated intracranial abnormalities like those seen in CS. DNA repair studies using the patient's fibroblasts demonstrated hypersensitive responses to ultraviolet (UV). XP, CS, and UV-sensitive syndromes with photosensitivity disturbances have been known as DNA repair abnormalities. However, an association of 6p monosomy with these diseases has not been reported so far. Molecular analysis of the patient we described may contribute to the identification of novel DNA-repair-related gene(s) and/or to the senile mechanism.

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Absence of DNA Repair Deficiency in the Confirmed Heterozygotes of Xeroderma Pigmentosum Group A

Cited by 22 publications

References 8 publications

GCN5-deficiency remarkably enhances the sensitivity of B cells in response to 4-nitroquinoline 1-oxide

GCN5-deficiency remarkably enhances the sensitivity of B cells in response to 4-nitroquinoline 1-oxide

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family

Woman with UV hypersensitivity and a de novo unbalanced chromosome translocation

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