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    GENE:

    XPA (XPA, DNA Damage Recognition And Repair Factor)

    i
    Other names: XPAC, Xeroderma Pigmentosum Group A-Complementing Protein, Xeroderma Pigmentosum, Complementation Group A, DNA Repair Protein Complementing XP-A Cells, XP1
    1m
    The association between DNA repair genes polymorphisms and cisplatin-induced ototoxicity in cancer patients: a systematic review. (PubMed, Per Med)
    Although several DNA repair gene polymorphisms have been explored, findings remain inconsistent and limited by populations and SNPs studied. Larger, well-designed studies with standardized methodologies are needed to confirm these associations and identify genetic markers for predicting high-risk patients for CIO.
    Review • Journal
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    ERCC1 (Excision repair cross-complementation group 1) • ERCC2 (Excision repair cross-complementation group 2) • GSTP1 (Glutathione S-transferase pi 1) • FASLG (Fas ligand) • MSH3 (MutS Homolog 3) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2) • XPC (XPC Complex Subunit, DNA Damage Recognition And Repair Factor) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) • XPA (XPA, DNA Damage Recognition And Repair Factor) • XRCC1 (X-Ray Repair Cross Complementing 1)
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    cisplatin
    2ms
    Impact of Arsenite on Transient and Persistent Histone H3 Modifications and Transcriptional Response. (PubMed, Chem Res Toxicol)
    Mechanistically, in A549 cells, increased total HDAC or decreased HAT activity could be excluded. Instead, a persistent moderate decline in HDAC activity and a delayed, pronounced induction of HAT activity suggest targeted arsenite interactions with specific enzymes of the histone acetylation regulatory network.
    Journal
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    MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • XPA (XPA, DNA Damage Recognition And Repair Factor)
    2ms
    PD02 Xeroderma pigmentosum: from first symptoms to diagnosis. (PubMed, Br J Dermatol)
    Dermatologists are the primary referrers, underscoring their critical role in early recognition. Enhanced awareness across specialties is crucial to improve diagnostic timelines and outcomes.
    Retrospective data • Journal
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    XPA (XPA, DNA Damage Recognition And Repair Factor)
    3ms
    Proteomic discovery of DEK and NUMA1 as new players in UV-induced DNA damage repair mechanisms. (PubMed, Cell Death Discov)
    Co-depletion experiments revealed an epistatic relationship between DEK or NUMA1 and APE1, but not with XPA, suggesting an impaired BER in DEK- or NUMA1-depleted cells, possibly due to excessive PCNA accumulation. Our findings suggest that DEK and NUMA1 facilitate efficient UV lesion removal by promoting proper NER activity and regulating APE1-mediated long-patch BER, highlighting the collaborative roles of NER and BER in UV lesion repair.
    Journal
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    PCNA (Proliferating cell nuclear antigen) • XPA (XPA, DNA Damage Recognition And Repair Factor)
    3ms
    CRISPR/Cas9-mediated editing of XPA in induced pluripotent stem cells: A model for investigating Xeroderma Pigmentosum and NER dysfunction. (PubMed, Stem Cell Res)
    The edited iPSCs retained normal morphology, expressed pluripotency markers, and differentiated into all three germ layers. This mutant iPSC line provides a robust isogenic model to dissect the molecular consequences of XPA deficiency and to explore therapeutic strategies for XPA-associated diseases.
    Journal
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    XPA (XPA, DNA Damage Recognition And Repair Factor)
    5ms
    Effect of blueberry extract on enhancement of radiosensitivity in non-Hodgkin lymphoma by modulating proliferation and apoptosis. (PubMed, Daru)
    The study suggests that blueberry extract stimulates apoptosis in Raji cells and could serve as an anti-cancer drug. Furthermore, the combination of this extract with radiotherapy could be used as a radiosensitizer.
    Journal • IO biomarker
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    BCL2 (B-cell CLL/lymphoma 2) • BAX (BCL2-associated X protein) • XPA (XPA, DNA Damage Recognition And Repair Factor) • ANXA5 (Annexin A5)
    5ms
    A splicing variant in XPA results in delayed onset of clinical features of xeroderma pigmentosum. (PubMed, J Invest Dermatol)
    Further experiments demonstrated that while the XPAR130K protein variant is both stable and functional in NER, it is a splice defect in the XPAc.389G>A gene in patients that leads to reduced XPA mRNA levels, ultimately explaining the low protein levels and residual NER activity in patients. This study highlights the complex relationship between genotype, splicing, and clinical phenotype in XP-A patients.
    Journal
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    XPA (XPA, DNA Damage Recognition And Repair Factor)
    6ms
    Role of circadian CLOCK signaling in cellular senescence. (PubMed, Biogerontology)
    CLOCK also interacts with mTOR and NF-κB pathways to regulate autophagy and mitigate harmful secretions impacting tissue function. This review examines the molecular links between CLOCK and cellular senescence, drawing from animal and human studies, to highlight CLOCK's role in aging and its potential as a target for anti-aging therapies.
    Review • Journal
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    MYC (V-myc avian myelocytomatosis viral oncogene homolog) • XPA (XPA, DNA Damage Recognition And Repair Factor) • ARNTL (Aryl Hydrocarbon Receptor Nuclear Translocator Like) • PDIA3 (Protein Disulfide Isomerase Family A Member 3)
    8ms
    Oroxylin A inhibits UVB-induced non-melanoma skin cancer by regulating XPA degradation. (PubMed, Chin J Nat Med)
    By maintaining XPA levels, OA expedited photoproduct clearance and diminished genomic instability, ultimately impeding NMSC development. These findings suggest OA as a promising chemopreventive agent targeting the GRP94/MDM2-XPA axis to counteract UVB-induced carcinogenesis.
    Journal
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    XPA (XPA, DNA Damage Recognition And Repair Factor)
    9ms
    Bioprospecting potential genetic biomarkers of gallbladder cancer. (PubMed, Mol Biol Rep)
    A significantly high differential gene expression was identified in gallbladder cancer compared to control groups. For the first time, we identified key genes-XAB2, XPA, RPA1, RAD51B, RPS27A, BRCA2, ATR, PDS5B, CCNB2, and RANBP2-as crucial players in homologous recombination, mismatch repair, DNA damage repair, and DNA replication processes that contribute to gallbladder carcinogenesis.
    Journal • BRCA Biomarker
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    BRCA2 (Breast cancer 2, early onset) • RAD51B (RAD51 Paralog B) • RANBP2 (RAN Binding Protein 2) • XPA (XPA, DNA Damage Recognition And Repair Factor) • CCNB2 (Cyclin B2) • RPA1 (Replication Protein A1)
    9ms
    Comprehensive Neuropsychological Assessment of Confirmed Xeroderma Pigmentosum a Variant with Neurological Manifestations: Case Report. (PubMed, Arch Clin Neuropsychol)
    There was widespread neurocognitive impairment in this XPA patient with neurodegeneration. However, significant cognitive decline did not present until adulthood in this patient, and preserved behavioral functioning bodes well for maintaining functional independence in a structured environment. Neuropsychological assessment early in diagnostic confirmation is key in tracking progression of cognitive decline, and in implementing supports to preserve functional independence.
    Journal
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    XPA (XPA, DNA Damage Recognition And Repair Factor)
    10ms
    Modulation of Chemotherapy Sensitivity of Breast Cancer Cells through Transforming Growth Factor-beta Pathway-mediated Alterations in DNA Damage Response. (PubMed, Int J Med Sci)
    Finally, cisplatin caused an overexpression of the four NER genes which was curtailed and augmented by TGF-β inhibition and stimulation, respectively. Overall, this study presented evidence of the impact exerted by TGF-β pathway on NER and cisplatin sensitivity of breast cancer cells.
    Journal
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    TGFB1 (Transforming Growth Factor Beta 1) • XPC (XPC Complex Subunit, DNA Damage Recognition And Repair Factor) • XPA (XPA, DNA Damage Recognition And Repair Factor)
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    cisplatin