Whole‐exome sequencing and host cell reactivation assay lead to a diagnosis of xeroderma pigmentosum group D with mild ultraviolet radiation sensitivity

Sugaya, Makoto; Funamizu, Kaoru; Kono, Michihiro; Kondo, Taisuke; Ono, Ryusuke; Akiyama, Masashi; Nishigori, Chikako; Sato, Shinichi

doi:10.1111/1346-8138.15617

Cited by 3 publications

(1 citation statement)

References 13 publications

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“…We then explored the levels of the 17 differentially expressed genes, and screened 7 genes with stable expressions in the three samples in 0Gy group, but increase or decrease in at least two dose groups (Figure 1b). Among them, 3 differentially expressed genes POLH, RPS27L and GADD45A have been proved to be closely related to dose of radiation and have been reported as radiation biomarkers (24)(25)(26)(27)(28). Previous studies have shown that DDB2 was a radiative biomarker.…”

Section: Resultsmentioning

confidence: 99%

Early Biomarkers Associated with P53 Signaling for Acute Radiation Injury

Zhou²,

Meng³

et al. 2022

Life

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Accurate dose assessment within 1 day or even 12 h after exposure through current methods of dose estimation remains a challenge, in response to a large number of casualties caused by nuclear or radiation accidents. P53 signaling pathway plays an important role in DNA damage repair and cell apoptosis induced by ionizing radiation. The changes of radiation-induced P53 related genes in the early stage of ionizing radiation should compensate for the deficiency of lymphocyte decline and γ-H2AX analysis as novel biomarkers of radiation damage. Bioinformatic analysis was performed on previous data to find candidate genes from human peripheral blood irradiated in vitro. The expression levels of candidate genes were detected by RT-PCR. The expressions of screened DDB2, AEN, TRIAP1, and TRAF4 were stable in healthy population, but significantly up-regulated by radiation, with time specificity and dose dependence in 2–24 h after irradiation. They are early indicators for medical treatment in acute radiation injury. Their effective combination could achieve a more accurate dose assessment for large-scale wounded patients within 24 h post exposure. The effective combination of p53-related genes DDB2, AEN, TRIAP1, and TRAF4 is a novel biodosimetry for a large number of people exposed to acute nuclear accidents.

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Section: Resultsmentioning

confidence: 99%

Early Biomarkers Associated with P53 Signaling for Acute Radiation Injury

Zhou²,

Meng³

et al. 2022

Life

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TFIIH central activity in nucleotide excision repair to prevent disease

Theil,

Häckes,

Lans

2023

DNA Repair

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Early Biomarkers Associated with P53 Signaling for Acute Radiation Injury

Zhou

Meng

et al. 2021

Preprint

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Background: Rapid and accurate high-throughput estimation of radiation dose aims to help medical rescue in nuclear radiation accident. However, current methods of dose estimation are still lacking of speedy or accuracy. P53 signaling pathway plays an important role in DNA damage repair and cell apoptosis induced by ionizing radiation. The changes of radiation-induced P53 related genes in the early stage of ionizing radiation should compensate for the deficiency of lymphocyte decline and γ-H2AX analysis as novel biomarkers of radiation damage. Methods: Bioinformatic analysis was performed on previous data to find candidate genes from human peripheral blood irradiated in vitro. The radiation sensitivity and baseline levels of candidate genes were verified. The approximate threshold for guiding medical treatment was estimated for each gene, and four genes were combined to construct an effectively early dose estimation model of radiation.Results: Four p53-related genes, DDB2, AEN, TRIAP1 and TRAF4, were screened and verified their significant radiosensitivity. Their expressions were stable without gender or age difference in healthy population, but significantly up-regulated by radiation, with time specificity and dose dependence in 2h-24h after irradiation. Further studies showed these genes can be used as indicators for early medical treatment in acute radiation injury. The effective combination of the four genes could achieve a more accurate dose assessment and injury classification for large-scale wounded patients within 24 hours post exposure.Conclusions: This is the first time to investigate the potential biomarkers of ionizing radiation by systematic study. The effective combination of the four genes provides a new model for dose estimation and injury classification of a large number of exposed population in acute nuclear accidents, and also provides a new idea and method.

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Whole‐exome sequencing and host cell reactivation assay lead to a diagnosis of xeroderma pigmentosum group D with mild ultraviolet radiation sensitivity

Cited by 3 publications

References 13 publications

Early Biomarkers Associated with P53 Signaling for Acute Radiation Injury

Early Biomarkers Associated with P53 Signaling for Acute Radiation Injury

TFIIH central activity in nucleotide excision repair to prevent disease

Early Biomarkers Associated with P53 Signaling for Acute Radiation Injury

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