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    Binding of calcium and target peptide to calmodulin-like protein CML19, the centrin 2 of Arabidopsis thaliana.
    Int J Biol Macromol 2017 Nov 9. Epub 2017 Nov 9.
    Department of Biotechnology, University of Verona, Strada Le Grazie 15, 37134, Italy. Electronic address:
    Calmodulin-like protein 19 (CML19) is an Arabidopsis centrin that modulates nucleotide excision repair (NER) by binding to RAD4 protein, the Arabidopsis homolog of human Xeroderma pigmentosum complementation group C protein. Although the necessity of CML19 as a part of the RAD4 plant recognition complex for functional NER is known at a cellular level, little is known at a molecular level. Herein, we used a combination of biophysical and biochemical approaches to investigate the structural and ion and target-peptide binding properties of CML19. Read More

    Xeroderma Pigmentosa Group A (XPA), Nucleotide Excision Repair and Regulation by ATR in Response to Ultraviolet Irradiation.
    Adv Exp Med Biol 2017 ;996:41-54
    Department of Biomedical Sciences, Quillen College of Medicine, East Tennessee State University, Johnson City, TN, 37614, USA.
    The sensitivity of Xeroderma pigmentosa (XP) patients to sunlight has spurred the discovery and genetic and biochemical analysis of the eight XP gene products (XPA-XPG plus XPV) responsible for this disorder. These studies also have served to elucidate the nucleotide excision repair (NER) process, especially the critical role played by the XPA protein. More recent studies have shown that NER also involves numerous other proteins normally employed in DNA metabolism and cell cycle regulation. Read More

    Modulation of XPC peptide on binding Tb(3+) to Euplotes octocarinatus centrin.
    Metallomics 2017 Nov 8. Epub 2017 Nov 8.
    Institute of Molecular Science, Key Laboratory of Chemical Biology of Molecular Engineering of Education Ministry, Shanxi University, Taiyuan 030006, P. R. China.
    Centrins are Ca(2+)-binding proteins found throughout eukaryotic organisms. Xeroderma pigmentosum group C protein (XPC), a dominant component of the nuclear excision repair (NER) pathway, is a critical target protein of centrins. A 22-residue peptide (K842-R863) from XPC was used to investigate the effect of metal ions (Ca(2+) and Tb(3+)) on the peptide binding of Euplotes octocarinatus centrin (EoCen) by isothermal titration calorimetry (ITC) and fluorescence spectroscopy. Read More

    Omics Approaches for Identifying Physiological Adaptations to Genome Instability in Aging.
    Int J Mol Sci 2017 Nov 4;18(11). Epub 2017 Nov 4.
    Institute for Genome Stability in Ageing and Disease, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 26, 50931 Cologne, Germany.
    DNA damage causally contributes to aging and age-related diseases. The declining functioning of tissues and organs during aging can lead to the increased risk of succumbing to aging-associated diseases. Congenital syndromes that are caused by heritable mutations in DNA repair pathways lead to cancer susceptibility and accelerated aging, thus underlining the importance of genome maintenance for withstanding aging. Read More

    XPC Deficiency Alters Cigarette Smoke DNA Damage Cell Fate and Accelerates Emphysema Development.
    Am J Respir Cell Mol Biol 2017 Nov 7. Epub 2017 Nov 7.
    National Jewish Health, Denver, Colorado, United States ;
    Cigarette smoke (CS) exposure is a major risk factor for the development of emphysema, a common disease characterized by loss of cells comprising the lung parenchyma. The mechanisms of cell injury leading to emphysema are not completely understood but are thought to involve persistent cytotoxic or mutagenic DNA damage induced by CS. Using complementary cell culture and mouse models of CS exposure, we investigated the role of the DNA repair protein xeroderma pigmentosum group C (XPC) on CS-induced DNA damage repair and emphysema. Read More

    ERCC4 Variants Identified in a Cohort of Patients with Segmental Progeroid Syndromes.
    Hum Mutat 2017 Nov 3. Epub 2017 Nov 3.
    Department of Pathology, University of Washington, Seattle, Washington.
    Pathogenic variants in genes which encode DNA repair and damage response proteins result in a number of genomic instability syndromes with features of accelerated aging. ERCC4 (XPF) encodes a protein that forms a complex with ERCC1 and is required for the 5' incision during nucleotide excision repair. ERCC4 is also FANCQ, illustrating a critical role in interstrand crosslink repair. Read More

    Effects of photodynamic therapy on dermal fibroblasts from xeroderma pigmentosum and Gorlin-Goltz syndrome patients.
    Oncotarget 2017 Sep 24;8(44):77385-77399. Epub 2017 Aug 24.
    Department of Biology, Faculty of Sciences, Autónoma University of Madrid, IRYCIS, Madrid, Spain.
    PDT is widely applied for the treatment of non-melanoma skin cancer pre-malignant and malignant lesions (actinic keratosis, basal cell carcinoma and in situ squamous cell carcinoma). In photodynamic therapy (PDT) the interaction of a photosensitizer (PS), light and oxygen leads to the formation of reactive oxygen species (ROS) and thus the selective tumor cells eradication. Xeroderma pigmentosum (XP) and Gorlin-Goltz Syndrome (GS) patients are at high risk of developing skin cancer in sun-exposed areas. Read More

    Association between the polymorphisms in XPG gene and gastric cancer susceptibility in Chinese populations: A PRISMA-compliant meta-analysis.
    Medicine (Baltimore) 2017 Oct;96(42):e8213
    aClinical Laboratory Center, Zhejiang Provincial People's Hospital bPeople's Hospital of Hangzhou Medical College cKey Laboratory of Tumor Molecular Diagnosis and Individualized Medicine of Zhejiang Province dKey Laboratory of Gastroenterology of Zhejiang Province, Hangzhou, Zhejiang, P. R. China.
    Background: Several previous studies were carried out on the association between xeroderma pigmentosum group G (XPG) gene polymorphisms (including rs873601 G>A, rs2094258 C>T, rs2296147 T>C, and rs751402 C>T) and the risk of gastric cancer in Chinese populations. However, their conclusions were not consistent. Therefore, this meta-analysis was performed by us to investigate the association between the 4 potentially functional single nucleotide polymorphisms (SNPs) of XPG gene and gastric cancer risk. Read More

    Xeroderma pigmentosum complementation group D polymorphism toward lung cancer susceptibility survival and response in patients treated with platinum chemotherapy.
    Future Oncol 2017 Oct 16:1645-1665. Epub 2017 Oct 16.
    Department of Biotechnology, Thapar University, Patiala, Punjab 147002, India.
    Aim: The study investigated role of xeroderma pigmentosum complementation group D (XPD) single nucleotide polymorphisms in modulating lung cancer risk and its association with overall survival and clinical outcomes.

    Methods:  XPD polymorphisms were detected using Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP).

    Results:  CC genotype of A751C polymorphism was associated with an increased lung cancer risk (p = 0. Read More

    Dynamics of DNA unwinding by helicases with frequent backward steps.
    Math Biosci 2017 Oct 10;294:33-45. Epub 2017 Oct 10.
    Key Laboratory of Soft Matter Physics and Beijing National Laboratory for Condensed Matter Physics, Institute of Physics, Chinese Academy of Sciences, Beijing 100190, China. Electronic address:
    XPD (Xeroderma pigmentosum complementation group D) is a prototypical 5' - 3' translocating DNA helicase that exhibits frequent backward steps during DNA unwinding. Here, we propose a model of DNA unwinding by XPD. With the model we explain why XPD exhibits frequent backsteps while other helicases show rare backsteps. Read More

    Chromatin remodeler CHD1 promotes XPC-to-TFIIH handover of nucleosomal UV lesions in nucleotide excision repair.
    EMBO J 2017 Nov 10;36(22):3372-3386. Epub 2017 Oct 10.
    Institute of Pharmacology and Toxicology, University of Zurich-Vetsuisse, Zurich, Switzerland
    Ultraviolet (UV) light induces mutagenic cyclobutane pyrimidine dimers (CPDs) in nucleosomal DNA that is tightly wrapped around histone octamers. How global-genome nucleotide excision repair (GG-NER) processes CPDs despite that this chromatin arrangement is poorly understood. An increased chromatin association of CHD1 (chromodomain helicase DNA-binding 1) upon UV irradiation indicated possible roles of this chromatin remodeler in the UV damage response. Read More

    Managing actinic keratosis in primary care.
    Practitioner 2016 10;260(1797):25-9
    Actinic, or solar, keratosis is caused by chronic ultraviolet-induced damage to the epidermis. In the UK, 15-23% of individuals have actinic keratosis lesions. Risk factors include: advanced age; male gender; cumulative sun exposure or phototherapy; Fitzpatrick skin phototypes I-II; long-term immuno-suppression and genetic syndromes e. Read More

    Quantitative analysis of brain atrophy in patients with xeroderma pigmentosum group A carrying the founder mutation in Japan.
    J Neurol Sci 2017 Oct 24;381:103-106. Epub 2017 Aug 24.
    Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Japan.
    Introduction: Xeroderma pigmentosum (XP) is an inherited congenital disease presenting with dermatological and neurological manifestations. In Japan, XP complementation group A (XP-A) is most frequently observed in eight clinical subtypes, and the homozygous founder mutation, IVS3-1G>C in XPA, suffer from severe manifestations including progressive brain atrophy since childhood. In this study, we used magnetic resonance imaging (MRI) and applied volumetric analysis to elucidate the start and the progression of the brain atrophy in these patients. Read More

    Dramatic response to nivolumab in xeroderma pigmentosum skin tumor.
    Pediatr Blood Cancer 2017 Oct 8. Epub 2017 Oct 8.
    Department of Pediatric Hematology-Oncology, CHU Félix Guyon, Saint Denis, France.
    We report the case of a 6-year-old female with xeroderma pigmentosum (XP) who developed a nonoperable scalp tumor, treated with anti-programmed cell death protein 1 (anti-PD-1) therapy (nivolumab). She presented with a sarcomatoid carcinoma of the scalp with bone lysis as well as vascular and meningeal contact. Nivolumab was initiated because it has emerged as a promising immunotherapy. Read More

    The intricate network between the p34 and p44 subunits is central to the activity of the transcription/DNA repair factor TFIIH.
    Nucleic Acids Res 2017 Oct;45(18):10872-10883
    Rudolf Virchow Center for Experimental Biomedicine, Institute for Structural Biology, University of Würzburg, 97080 Würzburg, Germany.
    The general transcription factor IIH (TFIIH) is a multi-protein complex and its 10 subunits are engaged in an intricate protein-protein interaction network critical for the regulation of its transcription and DNA repair activities that are so far little understood on a molecular level. In this study, we focused on the p44 and the p34 subunits, which are central for the structural integrity of core-TFIIH. We solved crystal structures of a complex formed by the p34 N-terminal vWA and p44 C-terminal zinc binding domains from Chaetomium thermophilum and from Homo sapiens. Read More

    Structural dynamics and interactions of Xeroderma pigmentosum complementation group A (XPA98-210) with damaged DNA.
    J Biomol Struct Dyn 2017 Oct 25:1-13. Epub 2017 Oct 25.
    a Molecular Modelling and Simulation Laboratory, Department of Molecular Biology and Biotechnology , Tezpur University , Tezpur 784 028 , Assam , India.
    Nucleotide excision repair (NER) in higher organisms repair massive DNA abrasions caused by ultraviolet rays, and various mutagens, where Xeroderma pigmentosum group A (XPA) protein is known to be involved in damage recognition step. Any mutations in XPA cause classical Xeroderma pigmentosum disease. The extent to which XPA is required in the NER is still unclear. Read More

    A Polymorphism Located Near PMAIP1/Noxa Gene Influences Susceptibility to Hodgkin Lymphoma Development in South India
    Asian Pac J Cancer Prev 2017 09 27;18(9):2477-2483. Epub 2017 Sep 27.
    Department of Pharmacology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Gorimedu, Puducherry, India. Email:
    Background: Single nucleotide polymorphisms (SNPs) in DNA repair and Toll-like receptor (TLR) genes have been reported to be associated with Hodgkin Lymphoma (HL) risk. Since such associations may be ethnicity dependent, polymorphisms in TLR4 rs1554973, Xeroderma pigmentosum C (XPC) rs2228000, rs2228001 and a variant near PMAIP1/Noxa gene rs8093763 were here investigated with regard to HL susceptibility in a south Indian population. Normative frequencies of SNPs were established and compared with data for 1000 genome populations. Read More

    Design and Structure-Guided Development of Novel Inhibitors of the Xeroderma Pigmentosum Group A (XPA) Protein-DNA Interaction.
    J Med Chem 2017 Oct 21;60(19):8055-8070. Epub 2017 Sep 21.
    Department of Medicine, Indiana University School of Medicine , Indianapolis, Indiana 46202, United States.
    XPA is a unique and essential protein required for the nucleotide excision DNA repair pathway and represents a therapeutic target in oncology. Herein, we are the first to develop novel inhibitors of the XPA-DNA interaction through structure-guided drug design efforts. Ester derivatives of the compounds 1 (X80), 22, and 24 displayed excellent inhibitory activity (IC50 of 0. Read More

    XRCC1 and XPD polymorphisms and their relation to the clinical course in hepatocarcinoma patients.
    Oncol Lett 2017 Sep 5;14(3):2783-2788. Epub 2017 Jul 5.
    Department of General Surgery, Qilu Hospital, Shandong University, Jinan, Shandong 250012, P.R. China.
    In this study genotyping of hepatocellular carcinoma (HCC) patients was conducted to detect polymorphisms on the X-ray repair cross-complementing 1 (XRCC1) and xeroderma pigmentosum complementary group D (XPD) genes and analyze the relationship of their presence with the clinical features of the cancer. A total of 172 patients with HCC were selected in Qilu Hospital, Shandong University, from January 2010 to September 2011. All patients underwent resection of HCC and no tumor metastases were found. Read More

    The melanocortin signaling cAMP axis accelerates repair and reduces mutagenesis of platinum-induced DNA damage.
    Sci Rep 2017 Sep 15;7(1):11708. Epub 2017 Sep 15.
    The Markey Cancer Center, University of Kentucky College of Medicine, Lexington, Kentucky, 40536, USA.
    Using primary melanocytes and HEK293 cells, we found that cAMP signaling accelerates repair of bi- and mono-functional platinum-induced DNA damage. Elevating cAMP signaling either by the agonistic MC1R ligand melanocyte stimulating hormone (MSH) or by pharmacologic cAMP induction by forskolin enhanced clearance of intrastrand cisplatin-adducts in melanocytes or MC1R-transfected HEK293 cells. MC1R antagonists human beta-defensin 3 and agouti signaling protein blocked MSH- but not forskolin-mediated enhancement of platinum-induced DNA damage. Read More

    The cryo-electron microscopy structure of human transcription factor IIH.
    Nature 2017 Sep 13;549(7672):414-417. Epub 2017 Sep 13.
    California Institute for Quantitative Biology (QB3), University of California, Berkeley, California 94720, USA.
    Human transcription factor IIH (TFIIH) is part of the general transcriptional machinery required by RNA polymerase II for the initiation of eukaryotic gene transcription. Composed of ten subunits that add up to a molecular mass of about 500 kDa, TFIIH is also essential for nucleotide excision repair. The seven-subunit TFIIH core complex formed by XPB, XPD, p62, p52, p44, p34, and p8 is competent for DNA repair, while the CDK-activating kinase subcomplex, which includes the kinase activity of CDK7 as well as the cyclin H and MAT1 subunits, is additionally required for transcription initiation. Read More

    Acellular Dermal Matrix: Treating Periocular Melanoma in a Patient with Xeroderma Pigmentosa.
    Plast Reconstr Surg Glob Open 2017 Aug 22;5(8):e1442. Epub 2017 Aug 22.
    Department of Plastic and Reconstructive Surgery, University of Cape Town, South Africa.
    We report a 7-year-old girl with xeroderma pigmentosum (XP), who presented in our clinic with a large melanoma (35 × 50 × 20 mm, Breslow depth 18 mm) in the zygomatic-malar area. Palliative surgery was performed to maintain her residual vision and to reduce the pain caused by the compression of local structures. Because of the limited access of autologous skin grafts in pediatric patients with XP who are severely affected, we opted to use an acellular dermal matrix. Read More

    XPG gene rs751402 C>T polymorphism and cancer risk: Evidence from 22 publications.
    Oncotarget 2017 Aug 18;8(32):53613-53622. Epub 2017 Jul 18.
    Department of Hematology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou 325027, Zhejiang, China.
    The Xeroderma pigmentosum group G (XPG) gene promotes recognition and excision of damaged DNA during the DNA repair process. We conducted a comprehensive search of the MEDLINE, EMBASE, and Chinese Biomedical databases for publications evaluating the association XPG gene rs751402 C>T polymorphism and overall cancer risk. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were adopted to assess the strength of the association. Read More

    Analysis of DNA binding by human factor xeroderma pigmentosum complementation group A (XPA) provides insight into its interactions with nucleotide excision repair substrates.
    J Biol Chem 2017 Oct 31;292(41):16847-16857. Epub 2017 Aug 31.
    From the Departments of Chemistry and
    Xeroderma pigmentosum (XP) complementation group A (XPA) is an essential scaffolding protein in the multiprotein nucleotide excision repair (NER) machinery. The interaction of XPA with DNA is a core function of this protein; a number of mutations in the DNA-binding domain (DBD) are associated with XP disease. Although structures of the central globular domain of human XPA and data on binding of DNA substrates have been reported, the structural basis for XPA's DNA-binding activity remains unknown. Read More

    Transcription coupled repair deficiency protects against human mutagenesis and carcinogenesis: Personal Reflections on the 50th anniversary of the discovery of xeroderma pigmentosum.
    DNA Repair (Amst) 2017 Oct 23;58:21-28. Epub 2017 Aug 23.
    Department of Dermatology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA, 94143. Electronic address:
    Xeroderma pigmentosum (XP) patients who lack the main damage recognition protein for global genome repair (GGR), XPC, have greatly increased skin cancer rates and elevated mutation frequencies originating from unrepaired ultraviolet photoproducts in the nontranscribed regions of the genome and in nontranscribed strands of expressed genes. But they show no increased mutations in transcribed strands. In contrast, cancer is absent from Cockayne syndrome (CS) patients that have defective transcription coupled repair (TCR) despite severe photosensitivity, CS patients remarkably show no elevation of UV induced mutagenesis implying that defective TCR may be protective against mutagenesis and carcinogenesis. Read More

    Recurrent conjunctival atypical fibroxanthoma in Pigmentosum Xeroderma.
    Arch Soc Esp Oftalmol 2017 Aug 23. Epub 2017 Aug 23.
    Departamento de Oftalmología, Hospital Universitario y Politécnico la Fe, Valencia, España.
    Case Report: A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. Read More

    The Association Between XPG Gene Polymorphism and Gastric Cancer Risk.
    Genet Test Mol Biomarkers 2017 Oct 23;21(10):619-624. Epub 2017 Aug 23.
    Department of General Surgery, Hangzhou Red Cross Hospital/Zhe Jiang Chinese Medicine and Western Medicine Integrated Hospital , Hangzhou, China .
    Purpose: Studies exploring the association between the Xeroderma pigmentosum group G (XPG) gene polymorphisms and gastric cancer (GC) risk provide conflicting findings. Thus, this meta-analysis was performed.

    Materials And Methods: The PubMed and EMBASE databases were comprehensively searched to identify studies for the inclusion in the meta-analysis. Read More

    An investigation of the predictors of photoprotection and UVR dose to the face in patients with XP: a protocol using observational mixed methods.
    BMJ Open 2017 Aug 21;7(8):e018364. Epub 2017 Aug 21.
    Institute of Pharmaceutical Science, King's College London, London, UK.
    Introduction: Xeroderma pigmentosum (XP) is a rare genetic condition caused by defective nucleotide excision repair and characterised by skin cancer, ocular and neurological involvement. Stringent ultraviolet protection is the only way to prevent skin cancer. Despite the risks, some patients' photoprotection is poor, with a potentially devastating impact on their prognosis. Read More

    Experiences of stigma over the lifetime of people with xeroderma pigmentosum: A qualitative interview study in the United Kingdom.
    J Health Psychol 2017 Jun 1:1359105317714643. Epub 2017 Jun 1.
    King's College London, UK.
    This study explored experiences of stigma in 25 adults with xeroderma pigmentosum. Analysis of semi-structured interviews revealed the changing nature of stigma over the lifetime. Bullying occurred in childhood, whereas adults were questioned about both their photoprotection and skin damage, often resulting in internalised feelings of stigma. Read More

    The association between XPG polymorphisms and cancer susceptibility: Evidence from observational studies.
    Medicine (Baltimore) 2017 Aug;96(32):e7467
    aDepartment of Pathology, Jining No. 1 People's Hospital, Jining, Shandong bDepartment of Pathology, Changhai Hospital, Second Military Medical University, Shanghai cDepartment of Oncology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong dZhejiang Provincial Key Laboratory of Medical Genetics, Wenzhou Medical University, Wenzhou, Zhejiang eMolecular Epidemiology Laboratory, Department of Laboratory Medicine, Harbin Medical University Cancer Hospital, Harbin, Heilongjiang fDepartment of Cardio-Thoracic Surgery, Jining No. 1 People's Hospital, Jining, Shandong, China.
    Background: Exposure to environmental carcinogens can cause damages to DNA. If not properly repaired, the DNA damages may increase the risk of carcinogenesis. Xeroderma pigmentosum group G (XPG) gene is an essential gene in the nucleotide excision repair (NER) pathway. Read More

    Xeroderma pigmentosum clinical practice guidelines.
    J Dermatol 2017 Oct 3;44(10):1087-1096. Epub 2017 Aug 3.
    Division of Dermatology, Kobe University Graduate School of Medicine (Chairperson at Xeroderma pigmentosum clinical practice guidelines revision committee), Kobe, Japan.
    Xeroderma pigmentosum (XP) is a genetic photosensitive disorder in which patients are highly susceptibe to skin cancers on the sun-exposed body sites. In Japan, more than half of patients (30% worldwide) with XP show complications of idiopathic progressive, intractable neurological symptoms with poor prognoses. Therefore, this disease does not merely present with dermatological symptoms, such as photosensitivity, pigmentary change and skin cancers, but is "an intractable neurological and dermatological disease". Read More

    Poly(ADP-ribose) polymerase 1 escorts XPC to UV-induced DNA lesions during nucleotide excision repair.
    Proc Natl Acad Sci U S A 2017 Aug 31;114(33):E6847-E6856. Epub 2017 Jul 31.
    Laboratory for Skin Cancer Research, Neuroscience Axis, Centre Hospitalier Universitaire de Québec Research Center-Université Laval, Québec, QC, Canada G1V 4G2;
    Xeroderma pigmentosum C (XPC) protein initiates the global genomic subpathway of nucleotide excision repair (GG-NER) for removal of UV-induced direct photolesions from genomic DNA. The XPC has an inherent capacity to identify and stabilize at the DNA lesion sites, and this function is facilitated in the genomic context by UV-damaged DNA-binding protein 2 (DDB2), which is part of a multiprotein UV-DDB ubiquitin ligase complex. The nuclear enzyme poly(ADP-ribose) polymerase 1 (PARP1) has been shown to facilitate the lesion recognition step of GG-NER via its interaction with DDB2 at the lesion site. Read More

    XPG Asp1104His, XRCC2 Rs3218536 A/G and RAD51 135G/C Gene Polymorphisms and Colorectal Cancer Risk: A Meta-Analysis
    Asian Pac J Cancer Prev 2017 07 27;18(7):1805-1813. Epub 2017 Jul 27.
    Genetic of Non-Communicable Disease Research Center, School of Medicine, University of Medical Sciences, Zahedan, Iran.
    Background: DNA repair mechanisms are crucial for sustaining DNA integrity and preventing carcinogenesis. The xeroderma pigmentosum group G (XPG), X-ray repair cross complementing group 2 (XRCC2) and RAD51 are candidate genes for DNA repair pathways. Methods: We performed a meta-analysis of 26 studies that assessed the impact of XPG Asp1104His, XRCC2 rs3218536 A/G and RAD51 135G/C polymorphisms on colorectal cancer (CRC) risk. Read More

    Cisplatin resistance in non-small cell lung cancer cells is associated with an abrogation of cisplatin-induced G2/M cell cycle arrest.
    PLoS One 2017 26;12(7):e0181081. Epub 2017 Jul 26.
    Federal Institute for Drugs and Medical Devices (BfArM), Bonn, Germany.
    The efficacy of cisplatin-based chemotherapy in cancer is limited by the occurrence of innate and acquired drug resistance. In order to better understand the mechanisms underlying acquired cisplatin resistance, we have compared the adenocarcinoma-derived non-small cell lung cancer (NSCLC) cell line A549 and its cisplatin-resistant sub-line A549rCDDP2000 with regard to cisplatin resistance mechanisms including cellular platinum accumulation, DNA-adduct formation, cell cycle alterations, apoptosis induction and activation of key players of DNA damage response. In A549rCDDP2000 cells, a cisplatin-induced G2/M cell cycle arrest was lacking and apoptosis was reduced compared to A549 cells, although equitoxic cisplatin concentrations resulted in comparable platinum-DNA adduct levels. Read More

    Apigenin prevents ultraviolet-B radiation induced cyclobutane pyrimidine dimers formation in human dermal fibroblasts.
    Mutat Res 2017 Sep 27;821:28-35. Epub 2017 Jun 27.
    Department of Biochemistry and Biotechnology, Annamalai University, Annamalainagar, Tamil Nadu 608002, India. Electronic address:
    Exposure to solar ultraviolet-B (UVB) radiation leads to the formation of cyclobutane pyrimidine dimers (CPDs). We investigated the protective effect of apigenin against UVB-induced CPDs formation in human dermal fibroblasts cells (HDFa). For this purpose, HDFa cells were treated with apigenin (15μM) prior to UVB irradiation (20mJ/cm(2)); DNA damage and subsequent molecular end points were observed. Read More

    Phosphorylated HBO1 at UV irradiated sites is essential for nucleotide excision repair.
    Nat Commun 2017 Jul 18;8:16102. Epub 2017 Jul 18.
    Department of Molecular Biology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, Shizuoka 431-3192, Japan.
    HBO1, a histone acetyl transferase, is a co-activator of DNA pre-replication complex formation. We recently reported that HBO1 is phosphorylated by ATM and/or ATR and binds to DDB2 after ultraviolet irradiation. Here, we show that phosphorylated HBO1 at cyclobutane pyrimidine dimer (CPD) sites mediates histone acetylation to facilitate recruitment of XPC at the damaged DNA sites. Read More

    An endogenous DNA adduct as a prognostic biomarker for hepatocarcinogenesis and its prevention by Theaphenon E in mice.
    Hepatology 2017 Jul 18. Epub 2017 Jul 18.
    Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC.
    Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related deaths worldwide, mainly because of its poor prognosis. A valid mechanism-based prognostic biomarker is urgently needed. γ-hydroxy-1,N(2) -propanodeoxyguanosine (γ-OHPdG) is an endogenously formed mutagenic DNA adduct derived from lipid peroxidation. Read More

    Transcriptional consequences of XPA disruption in human cell lines.
    DNA Repair (Amst) 2017 Sep 29;57:76-90. Epub 2017 Jun 29.
    Department of Epigenetics & Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, P.O. Box 389, Smithville, TX, 78957, USA; MD Anderson Cancer Center UT Health Graduate School of Biomedical Sciences, TX, USA. Electronic address:
    Nucleotide excision repair (NER) in mammalian cells requires the xeroderma pigmentosum group A protein (XPA) as a core factor. Remarkably, XPA and other NER proteins have been detected by chromatin immunoprecipitation at some active promoters, and NER deficiency is reported to influence the activated transcription of selected genes. However, the global influence of XPA on transcription in human cells has not been determined. Read More

    Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.
    Am J Med Genet A 2017 Sep 8;173(9):2511-2516. Epub 2017 Jul 8.
    Laboratory of Genetic Instability and Oncogenesis, UMR8200 CNRS, Gustave Roussy, Université Paris-Sud, Villejuif, France.
    We describe the characterization of Xeroderma Pigmentosum variant (XPV) in a young Caucasian patient with phototype I, who exhibited a high sensitivity to sunburn and multiple cutaneous tumors at the age of 15 years. Two novel mutations in the POLH gene, which encodes the translesion DNA polymerase η, with loss of function due to two independent exon skippings, are reported to be associated as a compound heterozygous state in the patient. Western blot analysis performed on proteins from dermal fibroblasts derived from the patient and analysis of the mutation spectrum on immunoglobulin genes produced during the somatic hypermutation process in his memory B cells, show the total absence of translesion polymerase η activity in the patient. Read More

    An assay to detect DNA-damaging agents that induce nucleotide excision-repairable DNA lesions in living human cells.
    Mutat Res 2017 Aug 22;820:1-7. Epub 2017 May 22.
    Division of Chemistry, Graduate School of Engineering Science, Osaka University, Osaka, Japan. Electronic address:
    Biochemical risk assessment studies of chemicals that induce DNA lesions are important, because lesions in genomic DNA frequently result in cancer, neurodegeneration, and aging in humans. Many classes of DNA lesions induced by chemical agents are eliminated via DNA repair mechanisms, such as nucleotide excision repair (NER) and base excision repair (BER), for the maintenance of genomic integrity. Individuals with NER-defective xeroderma pigmentosum (XP), in which bulky DNA lesions are not efficiently removed, are cancer-prone and suffer neurodegeneration. Read More

    Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant.
    Gene 2017 Sep 29;628:162-169. Epub 2017 Jun 29.
    Department of Dermatology, Peking University Third Hospital, Beijing, China.
    Xeroderma pigmentosum (XP) is a rare, recessive hereditary disease characterized by sunlight hypersensitivity and high incidence of skin cancer with clinical and genetic heterogeneity. We collected two unrelated Chinese patients showing typical symptoms of XPC without neurologic symptoms. Direct sequencing of XPC gene revealed that patient 1 carried IVS1+1G>A and c. Read More

    A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.
    J Med Case Rep 2017 Jun 15;11(1):158. Epub 2017 Jun 15.
    Centre de génomique humaine, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed V, Rabat, Morocco.
    Background: Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been associated to this disorder. Read More

    RPA activates the XPF-ERCC1 endonuclease to initiate processing of DNA interstrand crosslinks.
    EMBO J 2017 Jul 12;36(14):2047-2060. Epub 2017 Jun 12.
    Department of Oncology, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    During replication-coupled DNA interstrand crosslink (ICL) repair, the XPF-ERCC1 endonuclease is required for the incisions that release, or "unhook", ICLs, but the mechanism of ICL unhooking remains largely unknown. Incisions are triggered when the nascent leading strand of a replication fork strikes the ICL Here, we report that while purified XPF-ERCC1 incises simple ICL-containing model replication fork structures, the presence of a nascent leading strand, modelling the effects of replication arrest, inhibits this activity. Strikingly, the addition of the single-stranded DNA (ssDNA)-binding replication protein A (RPA) selectively restores XPF-ERCC1 endonuclease activity on this structure. Read More

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