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    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. 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 Aug 31. Epub 2017 Aug 31.
    Vanderbilt University, United States
    Xeroderma pigmentosum (XP) complementation group A (XPA) is an essential scaffolding protein in the multi-protein 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 XPAs 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

    ADAR1 splicing mutation leading to dyschromatosis hereditaria in a Caucasian patient.
    J Eur Acad Dermatol Venereol 2017 Aug 21. Epub 2017 Aug 21.
    CHU de Bordeaux, Service de Dermatologie, F-33076, Bordeaux, France.
    Dyschromatosis symmetrica hereditaria (DSH, OMIM 127400) is a rare autosomal dominant disorder characterized by hypo-and hyperpigmented macules on the dorsal aspects of hands and feet and freckle-like macules on the face(1). Histologically, there is an increase in epidermal melanin pigment in the hyperpigmented area and with normally structured melanosomes, together with an absence of melanin pigment in hypopigmented macules. The disease is known to be caused by mutations in the adenosine deaminase, RNA-specific (ADAR) gene (Miyamura et al. Read More

    The Association Between XPG Gene Polymorphism and Gastric Cancer Risk.
    Genet Test Mol Biomarkers 2017 Aug 23. 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 Aug 3. 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, 20057, USA.
    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 (LPO). 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

    Nucleotide excision repair is a potential therapeutic target in multiple myeloma.
    Leukemia 2017 Jun 7. Epub 2017 Jun 7.
    Department of Medical Oncology, Harvard Medical School, Dana-Farber Cancer Institute, Boston, MA, USA.
    Despite the development of novel drugs, alkylating agents remain an important component of therapy in multiple myeloma (MM). DNA repair processes contribute towards sensitivity to alkylating agents and therefore we here evaluate the role of nucleotide excision repair (NER), which is involved in the removal of bulky adducts and DNA crosslinks in MM. We first evaluated NER activity using a novel functional assay and observed a heterogeneous NER efficiency in MM cell lines and patient samples. Read More

    Xeroderma pigmentosum at a tertiary care center in Saudi Arabia.
    Ann Saudi Med 2017 May-Jun;37(3):240-244
    Lenah Alwatban, Department of Dermatology,, MBC 104, King Faisal Specialist Hospital and Research Centre,, PO Box 3354 Riyadh 11211,, Saudi Arabia, T: +966569450282 ORCID: http://orcid.org/0000-0002-0624-9910.
    Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder caused by defective DNA repair that results in extreme sensitivity to ultraviolet (UV) rays. Depending on the type of XP, the disease may affect the skin, eyes and nervous system.

    Objectives: Describe the dermatologic manifestations in patients suffering from XP. Read More

    Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
    Clin Cancer Res 2017 Jun;23(11):e23-e31
    National Cancer Institute, Rockville, Maryland.
    DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic cause. Read More

    Ophthalmic Manifestations of Xeroderma Pigmentosum: A Perspective from the United Kingdom.
    Ophthalmology 2017 May 26. Epub 2017 May 26.
    Nationally Commissioned Xeroderma Pigmentosum Service, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom; Department of Ophthalmology, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.
    Purpose: To document the ocular manifestations of xeroderma pigmentosum (XP), presenting via the United Kingdom (UK) XP service, and to analyze the correlations between XP genotype and ophthalmic phenotype.

    Design: Prospective observational case series.

    Subjects: Eighty-nine patients seen by the UK Nationally Commissioned XP Service, from April 2010 to December 2014, with a genetically confirmed diagnosis of XP. Read More

    Differential sensitivities of cellular XPA and PARP-1 to arsenite inhibition and zinc rescue.
    Toxicol Appl Pharmacol 2017 Sep 25;331:108-115. Epub 2017 May 25.
    Department of Pharmaceutical Sciences, College of Pharmacy, The University of New Mexico, Albuquerque, NM 87131, United States.
    Arsenite directly binds to the zinc finger domains of the DNA repair protein poly (ADP ribose) polymerase (PARP)-1, and inhibits PARP-1 activity in the base excision repair (BER) pathway. PARP inhibition by arsenite enhances ultraviolet radiation (UVR)-induced DNA damage in keratinocytes, and the increase in DNA damage is reduced by zinc supplementation. However, little is known about the effects of arsenite and zinc on the zinc finger nucleotide excision repair (NER) protein xeroderma pigmentosum group A (XPA). Read More

    Multiple skin cancers in patients with mycosis fungoides after long-term ultraviolet phototherapy.
    Clin Exp Dermatol 2017 Jul 22;42(5):523-526. Epub 2017 May 22.
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
    Phototherapy is a useful noninvasive therapy, but it can induce cutaneous malignant tumours, including squamous cell carcinoma (SCC) and basal cell carcinoma (BCC). We report on a 79-year-old man who had long-standing mycosis fungoides for 40 years, which had been treated with psoralen ultraviolet A therapy for 37 years at a dose of approximately 5000 J/cm(2) . Approximately 6 years before presentation, numerous types of cutaneous malignancies, including actinic keratosis, BCC and SCC, had begun to develop all over the patient's body. Read More

    XPC Polymorphism and Risk for Lung Cancer in North Indian Patients Treated with Platinum Based Chemotherapy and Its Association with Clinical Outcomes.
    Pathol Oncol Res 2017 May 24. Epub 2017 May 24.
    Department of Biotechnology, Thapar University, Punjab, 147002, India.
    Xeroderma pigmentosum complementation group C plays an important role in the human repair system. As reported in previous studies its polymorphism are associated with lung cancer susceptibility. The purpose of this study is to investigate the association of XPC gene with lung cancer susceptibility, overall response and clinical outcomes amongst North Indians. Read More

    CXCL1 Inhibition Regulates UVB-Induced Skin Inflammation and Tumorigenesis in Xpa-Deficient Mice.
    J Invest Dermatol 2017 Sep 17;137(9):1975-1983. Epub 2017 May 17.
    Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address:
    Xeroderma pigmentosum complementation group A is a hereditary disease characterized by early onset of skin cancers and freckle-like pigmented maculae in sun-exposed sites. Although the etiology of the predisposition to UVR-induced skin tumors in xeroderma pigmentosum complementation group A is well investigated as a repair deficiency in UVR-induced DNA damage, the mechanism of exaggerated sunburn in patients with xeroderma pigmentosum complementation group A and whether UVR-induced inflammation relates to a skin tumor-prone phenotype remains to be elucidated. Using gene profiling of xeroderma pigmentosum complementation group A model mice, Xpa-deficient mice, we found that expression of CXCL1 in the skin and blood of Xpa-deficient mice increased significantly after UVB exposure over even a limited area compared with that of wild-type mice. Read More

    Association between common polymorphisms in ERCC gene and glioma risk: A meta-analysis of 15 studies.
    Medicine (Baltimore) 2017 May;96(20):e6832
    Department of Neurosurgery, Jiangsu University Affliated Jintan Hospital, Jiangsu, China.
    Background: A number of studies have investigated the roles of excision repair cross complementation group 1 (ERCC1), ERCC2, and ERCC5 genes polymorphisms in the development of glioma; however, the results were inconsistent. Here, we performed a meta-analysis to investigate the association between 6 polymorphisms in the ERCC genes (rs3212986, rs11615, rs13181, rs1799793, rs238406, rs17655) and glioma risk.

    Methods: The PubMed, Embase, and Web of science were searched up to September 6, 2016, for studies on the association between ERCC polymorphisms and glioma risk. Read More

    The age-related expression decline of ERCC1 and XPF for forensic age estimation: A preliminary study.
    J Forensic Leg Med 2017 Jul 3;49:15-19. Epub 2017 May 3.
    Department of Forensic Medicine, North Sichuan Medical College, Nanchong, Sichuan 637000, PR China. Electronic address:
    The age-related capacity decline of DNA damage repair in human peripheral blood has been demonstrated. Excision repair cross-complementation group1 (ERCC1) and Xeroderma pigmentosum complementation group F (XPF) were rate-limiting enzyme in nucleotide excision repair (NER) which was known as the most important DNA damage repair system. Consequently, we hypothesized that the expression and/or activity of ERCC1 and XPF may be associated with age. Read More

    Subcellular distribution of RAD23B controls XPC degradation and DNA damage repair in response to chemotherapy drugs.
    Cell Signal 2017 Aug 1;36:108-116. Epub 2017 May 1.
    CAS Key Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China; School of Life Sciences and Technology, Shanghai Tech University, Shanghai 200031, China. Electronic address:
    The RAD23B-XPC complex in the nucleus plays a key role in the initial damage recognition during global genome nucleotide excision repair (NER). Within the complex, XPC, a product of Xeroderma pigmentosum C, recognizes and interacts with the unpaired bases in the undamaged DNA strand, while RAD23B stabilizes XPC. However, how RAD23B is regulated by other factors is not well known. Read More

    New polymorphisms of Xeroderma Pigmentosum DNA repair genes in myelodysplastic syndrome.
    Leuk Res 2017 Jul 1;58:73-82. Epub 2017 Apr 1.
    Cancer Cytogenomic Laboratory, Center for Research and Drug Development (NPDM), Federal University of Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program in Medical Science, Federal University of Ceara, Fortaleza, Ceara,Brazil; Post-Graduate Program of Pathology, Federal University of Ceara, Fortaleza, Ceara, Brazil. Electronic address:
    The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. To assess the functional role between these polymorphisms and MDS, we evaluated 189 samples stratified in two groups: 95 bone marrow samples from MDS patients and 94 from healthy elderly volunteers used as controls. Genotypes for all polymorphisms were identified in DNA samples in an allelic discrimination experiment by real-time polymerase chain reaction (qPCR). Read More

    Nucleotide Excision Repair Lesion-Recognition Protein Rad4 Captures a Pre-Flipped Partner Base in a Benzo[a]pyrene-Derived DNA Lesion: How Structure Impacts the Binding Pathway.
    Chem Res Toxicol 2017 Jun 15;30(6):1344-1354. Epub 2017 May 15.
    NYU-ECNU Center for Computational Chemistry at NYU Shanghai , Shanghai 200062, China.
    The xeroderma pigmentosum C protein complex (XPC) recognizes a variety of environmentally induced DNA lesions and is the key in initiating their repair by the nucleotide excision repair (NER) pathway. When bound to a lesion, XPC flips two nucleotide pairs that include the lesion out of the DNA duplex, yielding a productively bound complex that can lead to successful lesion excision. Interestingly, the efficiencies of NER vary greatly among different lesions, influencing their toxicity and mutagenicity in cells. Read More

    Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea.
    J Neurol Sci 2017 May 16;376:198-201. Epub 2017 Mar 16.
    Department of Neurology, Strasbourg University Hospital, Strasbourg, France; FMTS, Medecine Faculty, Strasbourg, France.
    The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Read More

    A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses.
    Int J Cancer 2017 Jul 8;141(2):342-353. Epub 2017 May 8.
    Department of Surgical & Radiological Sciences, School of Veterinary Medicine, University of California-Davis, Davis, CA.
    Squamous cell carcinoma (SCC) is the most common cancer of the equine eye, frequently originating at the limbus, with the potential to invade the cornea, cause visual impairment, and result in loss of the eye. Several breeds of horses have a high occurrence of limbal SCC implicating a genetic basis for limbal SCC predisposition. Pedigree analysis in the Haflinger breed supports a simple recessive mode of inheritance and a genome-wide association study (N = 23) identified a 1. Read More

    Alert Regarding Cisplatin-induced Severe Adverse Events in Cancer Patients with Xeroderma Pigmentosum.
    Intern Med 2017 15;56(8):979-982. Epub 2017 Apr 15.
    Second Department of Internal Medicine, Nagasaki University School of Medicine, Japan.
    Xeroderma pigmentosum (XP) is a genetic disease in which DNA repair mechanisms are impaired. Cisplatin (CDDP) exerts cytotoxic effects by forming mainly intrastrand DNA cross-links, and sensitivity to CDDP depends on the DNA repair system. Several in vitro studies have suggested that treatment with CDDP may cause enhanced adverse events as well as anti-tumor activity in cancer patients with XP. Read More

    XPG gene polymorphisms and cancer susceptibility: evidence from 47 studies.
    Oncotarget 2017 Jun;8(23):37263-37277
    Department of Pharmacy, The First Affiliated Hospital of Jinan University, Guangzhou 510630, Guangdong, China.
    Xeroderma pigmentosum group G (XPG) is a single-strand-specific DNA endonuclease that functions in the nucleotide excision repair pathway. Genetic variations in XPG gene can alter the DNA repair capacity of this enzyme. We evaluated the associations between six single nucleotide polymorphisms (SNPs) in XPG (rs1047768 T>C, rs2296147 T>C, rs2227869 G>C, rs2094258 C>T, rs751402 C>T, and rs873601 G>A) and cancer risk. Read More

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