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    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 Jun 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 Jul 8. 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 Jun 29. 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

    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 May 25. 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 May 17. Epub 2017 May 17.
    Division of Dermatology, Department of Internal Related, Graduate School of Medicine, Kobe University, Kobe, Japan. Electronic address:
    Xeroderma pigmentosum complementation group A (XP-A) is a hereditary disease characterized by early onset of skin cancers and freckles-like pigmented maculae in the sun-exposed sites. Although etiology of predisposition to UV-induced skin tumors in XP-A is well investigated as a repair deficiency in UV-induced DNA damage, the mechanism of exaggerated sunburn in patients with XP-A and whether UV-induced inflammation relates to skin tumor-prone phenotype remains to be elucidated. Using gene profiling of XP-A model mice, Xpa-deficient mice, we found that expression of CXCL1 in the skin and blood levels of in Xpa-deficient mice increased significantly after UVB exposure at an even a limited area in comparison to those 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

    [Light protection for xeroderma pigmentosum].
    Hautarzt 2017 May;68(5):359-363
    Universitätsklinik für Dermatologie, Franz-Josef-Strauß Allee 11, 93053, Regensburg, Deutschland.
    Xeroderma pigmentosum is a rare autosomal recessive disorder which is caused by germinal mutations responsible for the repair of ultraviolet (UV) radiation-induced DNA lesions. It is characterized by hypersensitivity to UV radiation, poikiloderma, ocular surface disease, and in some patients pronounced sunburn and neurological disease. Patients have a very high risk of developing ocular and skin cancer on exposed body sites. Read More

    Conjunctival Tumors: Review of Clinical Features, Risks, Biomarkers, and Outcomes--The 2017 J. Donald M. Gass Lecture.
    Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):109-120
    Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA.
    Conjunctival tumors encompass a broad range of diagnoses. The 3 most important malignant tumors include ocular surface squamous neoplasia (OSSN) (14%), melanoma (12%), and lymphoma (7%). Conjunctival malignancies are rarely found in children. Read More

    Xeroderma pigmentosum-Cockayne syndrome complex.
    Orphanet J Rare Dis 2017 Apr 4;12(1):65. Epub 2017 Apr 4.
    Forgotten Diseases Research Foundation, Santa Clara, CA, 95050, USA.
    Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. Read More

    NEIL1 protects against aflatoxin-induced hepatocellular carcinoma in mice.
    Proc Natl Acad Sci U S A 2017 Apr 3;114(16):4207-4212. Epub 2017 Apr 3.
    Oregon Institute of Occupational Health Sciences, Oregon Health & Science University, Portland, OR 97239;
    Global distribution of hepatocellular carcinomas (HCCs) is dominated by its incidence in developing countries, accounting for >700,000 estimated deaths per year, with dietary exposures to aflatoxin (AFB1) and subsequent DNA adduct formation being a significant driver. Genetic variants that increase individual susceptibility to AFB1-induced HCCs are poorly understood. Herein, it is shown that the DNA base excision repair (BER) enzyme, DNA glycosylase NEIL1, efficiently recognizes and excises the highly mutagenic imidazole ring-opened AFB1-deoxyguanosine adduct (AFB1-Fapy-dG). Read More

    Facile preparation of a fluorescent probe to detect the cellular ability of nucleotide excision repair.
    Anal Biochem 2017 Jun 30;526:71-74. Epub 2017 Mar 30.
    Division of Chemistry, Graduate School of Engineering Science, Osaka University, Toyonaka, Osaka 560-8531, Japan. Electronic address:
    We previously developed a method to detect the cellular ability of nucleotide excision repair, which functions to remove UV-induced lesions in DNA, using a plasmid-type fluorescent probe. A drawback to the popular use of this method was that the oligonucleotide containing the (6-4) photoproduct, which was used as a primer in the plasmid preparation, must be synthesized chemically. In this study, we prepared the probe using a post-synthetically UV-irradiated oligonucleotide as the primer. Read More

    Control of structure-specific endonucleases to maintain genome stability.
    Nat Rev Mol Cell Biol 2017 05 22;18(5):315-330. Epub 2017 Mar 22.
    Centre de Recherche en Cancérologie de Marseille, CRCM, CNRS, Aix Marseille Université, INSERM, Institut Paoli-Calmettes, 27 Boulevard Leï Roure, 13009 Marseille, France.
    Structure-specific endonucleases (SSEs) have key roles in DNA replication, recombination and repair, and emerging roles in transcription. These enzymes have specificity for DNA secondary structure rather than for sequence, and therefore their activity must be precisely controlled to ensure genome stability. In this Review, we discuss how SSEs are controlled as part of genome maintenance pathways in eukaryotes, with an emphasis on the elaborate mechanisms that regulate the members of the major SSE families - including the xeroderma pigmentosum group F-complementing protein (XPF) and MMS and UV-sensitive protein 81 (MUS81)-dependent nucleases, and the flap endonuclease 1 (FEN1), XPG and XPG-like endonuclease 1 (GEN1) enzymes - during processes such as DNA adduct repair, Holliday junction processing and replication stress. Read More

    XPG genetic polymorphisms and clinical outcome of patients with advanced non-small cell lung cancer under platinum-based treatment: a meta-analysis of 12 studies.
    Cancer Chemother Pharmacol 2017 Apr 17;79(4):791-800. Epub 2017 Mar 17.
    Department of Respiratory Diseases, The First Affiliated Hospital of Nanchang University, Nanchang, China.
    Purpose: A number of studies on the relationship between xeroderma pigmentosum group G (XPG) polymorphisms and clinical outcomes in non-small cell cancer (NSCLC) have led to inconclusive results. This meta-analysis evaluates the predictive value of XPG polymorphisms on the treatment response rate and overall survival of patients with NSCLC.

    Methods: To measure the correlative strength of the relationship between XPG polymorphisms and outcomes of patients with NSCLC, we searched electronic databases, including PubMed and China National Knowledge Infrastructure, to retrieve studies up to August 2016. Read More

    Vismodegib Therapy for Basal Cell Carcinoma in an 8-Year-Old Chinese Boy with Xeroderma Pigmentosum.
    Pediatr Dermatol 2017 Mar;34(2):163-165
    Nellis Air Force Base, Mike O'Callaghan Federal Medical Center, Las Vegas, Nevada.
    Vismodegib is an oral inhibitor of the Hedgehog signaling pathway and has been used to treat basal cell carcinoma (BCC) in adults. This article reports clearance of a nodular BCC of the nasal tip in an 8-year-old boy with xeroderma pigmentosum (XP). BCC can pose therapeutic challenges when located in areas that are not amenable to traditional therapies such as Mohs micrographic surgery or topical agents. Read More

    Mismatch repair proteins recruited to ultraviolet light-damaged sites lead to degradation of licensing factor Cdt1 in the G1 phase.
    Cell Cycle 2017 Apr 22;16(7):673-684. Epub 2017 Feb 22.
    a Graduate School of Life Science , University of Hyogo , Kamigori, Ako-gun , Hyogo , Japan.
    Cdt1 is rapidly degraded by CRL4(Cdt2) E3 ubiquitin ligase after UV (UV) irradiation. Previous reports revealed that the nucleotide excision repair (NER) pathway is responsible for the rapid Cdt1-proteolysis. Here, we show that mismatch repair (MMR) proteins are also involved in the degradation of Cdt1 after UV irradiation in the G1 phase. Read More

    Lack of XPC leads to a shift between respiratory complexes I and II but sensitizes cells to mitochondrial stress.
    Sci Rep 2017 03 13;7(1):155. Epub 2017 Mar 13.
    Departamento de Bioquímica, Instituto de Química, Universidade de São Paulo (USP), São Paulo, SP, Brazil.
    Genomic instability drives tumorigenesis and DNA repair defects are associated with elevated cancer. Metabolic alterations are also observed during tumorigenesis, although a causal relationship between these has not been clearly established. Xeroderma pigmentosum (XP) is a DNA repair disease characterized by early cancer. Read More

    Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.
    Case Rep Med 2017 1;2017:7162737. Epub 2017 Feb 1.
    Unidad de Genetica Médica, Facultad de Medicina, Universidad de Antioquia, Carrera 51D 62-29, Medellín, Colombia.
    Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis-Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Read More

    Hearing Dysfunction in Xpa-Deficient Mice.
    Front Aging Neurosci 2017 10;9:19. Epub 2017 Feb 10.
    Department of Otolaryngology-Head and Neck Surgery, Kobe University Graduate School of Medicine Kobe, Japan.
    Xeroderma pigmentosum (XP) is a rare recessive heredity disease caused by DNA repair impairment characterized by photosensitivity and neurologic symptoms in half of the cases. There are eight subtypes of XP: XP-A-XP-G and XP variant. Among eight subtypes, XP complementation group A (XP-A) display the lowest DNA repair ability and the severest cutaneous and neurologic symptoms. Read More

    ARID2 modulates DNA damage response in human hepatocellular carcinoma cells.
    J Hepatol 2017 May 24;66(5):942-951. Epub 2017 Feb 24.
    Department of Molecular Oncology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan; Department of Hepato-Biliary-Pancreatic Surgery, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address:
    Background & Aims: Recent genomic studies have identified frequent mutations of AT-rich interactive domain 2 (ARID2) in hepatocellular carcinoma (HCC), but it is not still understood how ARID2 exhibits tumor suppressor activities.

    Methods: We established the ARID2 knockout human HCC cell lines by using CRISPR/Cas9 system, and investigated the gene expression profiles and biological functions.

    Results: Bioinformatic analysis indicated that UV-response genes were negatively regulated in the ARID2 knockout cells, and they were sensitized to UV irradiation. Read More

    Xeroderma pigmentosum group C protein interacts with histones: regulation by acetylated states of histone H3.
    Genes Cells 2017 Mar 24;22(3):310-327. Epub 2017 Feb 24.
    Division of Genomic Functions and Dynamics, Biosignal Research Center, Kobe University, 1-1 Rokkodai-cho, Nada-ku, Kobe, Hyogo, 657-8501, Japan.
    In the mammalian global genome nucleotide excision repair pathway, two damage recognition factors, XPC and UV-DDB, play pivotal roles in the initiation of the repair reaction. However, the molecular mechanisms underlying regulation of the lesion recognition process in the context of chromatin structures remain to be understood. Here, we show evidence that damage recognition factors tend to associate with chromatin regions devoid of certain types of acetylated histones. Read More

    Polymorphism of DNA repair gene XPD Lys751Gln and chromosome aberrations in lymphocytes of thyroid cancer patients exposed to ionizing radiation due to the Chornobyl accident.
    Exp Oncol 2016 Dec;38(4):257-260
    State Institution «National Research Centre for Radiation Medicine of National Academy of Medical Sciences of Ukraine», Kyiv 04050, Ukraine.
    The aim of this work was to analyze the relationship between polymorphisms of DNA repair gene XPD Lys751Gln and frequency and spectrum of chromosome aberrations in the culture of peripheral blood lymphocytes of thyroid cancer (TC) patients having been exposed to ionizing radiation due to the Chornobyl accident.

    Materials And Methods: XPD Lys751Gln polymorphisms were detected by polymerase chain reaction in 102 TC patients including 38 patients exposed to ionizing radiation due to Chornobyl disaster (Chornobyl recovery workers, evacuees, and the residents of contaminated areas), 64 patients without history of ionizing radiation exposure and 45 healthy residents of Ukraine as control group.

    Results: In homozygous carriers of the minor allele XPD Gln751Gln, exposed to ionizing radiation, the significantly increased risk of TC (odds ratio = 3. Read More

    Downregulated XPA promotes carcinogenesis of bladder cancer via impairment of DNA repair.
    Tumour Biol 2017 Feb;39(2):1010428317691679
    Urology Institute of People Liberation Army, Southwest Hospital, Third Military Medical University, Chongqing, China.
    Bladder cancer is the most common malignant tumor of urinary system, largely resulting from failure of repair of DNA damage to the environmental insults. The function of XPA in nucleotide excision repair pathway has been well documented. However, participation of XPA in the repair of DNA double-strand break remains unknown. Read More

    XPF knockout via CRISPR/Cas9 reveals that ERCC1 is retained in the cytoplasm without its heterodimer partner XPF.
    Cell Mol Life Sci 2017 Jun 27;74(11):2081-2094. Epub 2017 Jan 27.
    Clinic and Policlinic for Dermatology and Venereology, University Medical Centre Rostock, Strempelstrasse 13, 18057, Rostock, Germany.
    The XPF/ERCC1 heterodimeric complex is essentially involved in nucleotide excision repair (NER), interstrand crosslink (ICL), and double-strand break repair. Defects in XPF lead to severe diseases like xeroderma pigmentosum (XP). Up until now, XP-F patient cells have been utilized for functional analyses. Read More

    DNA-Damaging Anticancer Drugs - A Perspective for DNA Repair- Oriented Therapy.
    Curr Med Chem 2017 ;24(15):1488-1503
    Department of Molecular Genetics, University of Lodz, Lodz, Poland.
    DNA-damaging drugs in cancer present two main problems: therapeutic resistance and side effects and both can associate with DNA repair, which can be targeted in cancer therapy. Bleomycin (BLM) induces complex DNA damages, including strand breaks, base loss and 3'-phosphoglycolate (3'PG) residues repaired by several pathways, but 3'PGs must be processed to the 3'-OH ends, usually by tyrosyl-DNA phosphodiesterase 1 (Tdp1). Therefore, targeting Tdp1 can improve anticancer therapy with BLM. Read More

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