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    Control of structure-specific endonucleases to maintain genome stability.
    Nat Rev Mol Cell Biol 2017 Mar 22. 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

    Lack of XPC leads to a shift between respiratory complexes I and II but sensitizes cells to mitochondrial stress.
    Sci Rep 2017 Dec 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 Feb 23. Epub 2017 Feb 23.
    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

    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

    NADPH oxidase-1 plays a key role in keratinocyte responses to ultraviolet radiation and UVB-induced skin carcinogenesis.
    J Invest Dermatol 2017 Jan 26. Epub 2017 Jan 26.
    Inserm U 1035, 33076 Bordeaux, France; Université de Bordeaux, 146 rue Léo Saignat, 33076 Bordeaux, France; Référence pour les Maladies Rares de la Peau, CHU de Bordeaux, France. Electronic address:
    The NADPH oxidase (NOX) family enzymes are involved in several physiological functions. However, their roles in keratinocyte responses to ultraviolet (UV) radiation have not been clearly elucidated. This study demonstrates that, among other NOX family members, UVB irradiation results in a biphasic activation of NOX1 that plays a critical role in defining keratinocyte fate through the modulation of the DNA damage response (DDR) network. 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 Jan 27. 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 Jan 24. Epub 2017 Jan 24.
    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

    A novel role for transcription-coupled nucleotide excision repair for the in vivo repair of 3,N4-ethenocytosine.
    Nucleic Acids Res 2017 Jan 23. Epub 2017 Jan 23.
    Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Etheno (ε) DNA base adducts are highly mutagenic lesions produced endogenously via reactions with lipid peroxidation (LPO) products. Cancer-promoting conditions, such as inflammation, can induce persistent oxidative stress and increased LPO, resulting in the accumulation of ε-adducts in different tissues. Using a recently described fluorescence multiplexed host cell reactivation assay, we show that a plasmid reporter bearing a site-specific 3,N(4)-ethenocytosine (εC) causes transcriptional blockage. Read More

    Sunlight damage to cellular DNA: Focus on oxidatively generated lesions.
    Free Radic Biol Med 2017 Jan 18. Epub 2017 Jan 18.
    Núcleo de Pesquisa em Ciências Biológicas & Departamento de Ciências Biológicas, Instituto de Ciências Exatas e Biológicas, Universidade Federal de Ouro Preto, 35400-000 Ouro Preto, MG, Brazil. Electronic address:
    The routine and often unavoidable exposure to solar ultraviolet (UV) radiation makes it one of the most significant environmental DNA-damaging agents to which humans are exposed. Sunlight, specifically UVB and UVA, triggers various types of DNA damage. Although sunlight, mainly UVB, is necessary for the production of vitamin D, which is necessary for human health, DNA damage may have several deleterious consequences, such as cell death, mutagenesis, photoaging and cancer. Read More

    Exopolysaccharides Isolated from Milk Fermented with Lactic Acid Bacteria Prevent Ultraviolet-Induced Skin Damage in Hairless Mice.
    Int J Mol Sci 2017 Jan 13;18(1). Epub 2017 Jan 13.
    Saisei Mirai Clinic Kobe, Kobe Commerce, Industry and Trade Center Building 23F, 5-1-14 Hamabedori, Chuo-ku, Kobe-shi, Hyogo 651-0083, Japan.
    Background: We studied the mechanism by which fermented milk ameliorates UV-B-induced skin damage and determined the active components in milk fermented with lactic acid bacteria by evaluating erythema formation, dryness, epidermal proliferation, DNA damage and cytokine mRNA levels in hairless mice exposed to acute UV-B irradiation.

    Methods: Nine week-old hairless mice were given fermented milk (1.3 g/kg BW/day) or exopolysaccharide (EPS) concentrate (70 mg/kg BW/day) orally for ten days. Read More

    MiR-488 inhibits proliferation and cisplatin sensibility in non-small-cell lung cancer (NSCLC) cells by activating the eIF3a-mediated NER signaling pathway.
    Sci Rep 2017 Jan 11;7:40384. Epub 2017 Jan 11.
    Departments of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, P. R. China.
    Our previous studied indicated that eukaryotic translation initiation factor 3a (eIF3a) increases the sensitive of platinum-based chemotherapy in lung cancer. MiRNAs play an important role in lung carcinogenesis and drug response. In this study, we aimed to identify potential endogenous miRNAs that inhibit eIF3a expression and determine their influence of this inhibition on cisplatin resistance. Read More

    Noise Stress Induces an Epidermal Growth Factor Receptor/Xeroderma Pigmentosum-A Response in the Auditory Nerve.
    J Histochem Cytochem 2017 Mar 5;65(3):173-184. Epub 2017 Jan 5.
    Cell & Molecular Pathology Laboratory, Department of Communication Sciences and Disorders, Northern Arizona University, Flagstaff, Arizona (OWG).
    In response to toxic stressors, cancer cells defend themselves by mobilizing one or more epidermal growth factor receptor (EGFR) cascades that employ xeroderma pigmentosum-A (XPA) to repair damaged genes. Recent experiments discovered that neurons within the auditory nerve exhibit basal levels of EGFR+XPA co-expression. This finding implied that auditory neurons in particular or neurons in general have the capacity to mobilize an EGFR+XPA defense. Read More

    Detailed Audiological Evaluation of a Patient with Xeroderma Pigmentosum with Neural Degeneration.
    J Am Acad Audiol 2017 Jan;28(1):80-90
    Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA.
    Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized by extreme sensitivity to ultraviolet light. Individuals with XP lack the ability to repair DNA (deoxyribonucleic acid) damage caused by ultraviolet radiation, leading to sunburn and increased susceptibility to skin cancers. Approximately 25% of patients also exhibit neural degeneration, which includes progressive mental deterioration, cortical thinning, and sensorineural hearing loss. Read More

    ERCC2/XPD Lys751Gln alter DNA repair efficiency of platinum-induced DNA damage through P53 pathway.
    Chem Biol Interact 2017 Feb 24;263:55-65. Epub 2016 Dec 24.
    Dept. of Toxicology, School of Public Health, China Medical University, Shenyang, PR China. Electronic address:
    Platinum-based treatment causes Pt-DNA adducts which lead to cell death. The platinum-induced DNA damage is recognized and repaired by the nucleotide excision repair (NER) system of which ERCC2/XPD is a critical enzyme. Single nucleotide polymorphisms in ERCC2/XPD have been found to be associated with platinum resistance. Read More

    The cyclopurine deoxynucleosides: DNA repair, biological effects, mechanistic insights, and unanswered questions.
    Free Radic Biol Med 2016 Dec 21. Epub 2016 Dec 21.
    Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, 5625 Fishers Lane, Rockville, MD 20852, USA.
    Patients with the genetic disease xeroderma pigmentosum (XP) who lack the capacity to carry out nucleotides excision repair (NER) have a dramatically elevated risk of skin cancer on sun exposed areas of the body. NER is the DNA repair mechanism responsible for the removal of DNA lesions resulting from ultraviolet light. In addition, a subset of XP patients develop a progressive neurodegenerative disease, referred to as XP neurologic disease, which is thought to be the result of accumulation of endogenous DNA lesions that are repaired by NER but not other repair pathways. Read More

    Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.
    Photodermatol Photoimmunol Photomed 2017 Jan;33(1):58-63
    Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
    Background: Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by exaggerated sunburn reactions, freckle-like pigmentation, and a high possibility of developing cutaneous tumors. XP comprised seven complementation groups (from XP-A to XP-G) and a variant form XP-V.

    Methods: This study was based on five unrelated Chinese families with six patients clinically suspected to be XP. Read More

    Association between genetic variants in the XPG gene and gastric cancer risk in a Southern Chinese population.
    Aging (Albany NY) 2016 Dec;8(12):3311-3320
    Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Department of Experimental Research, Collaborative Innovation Center for Cancer Medicine, Guangzhou 510060, Guangdong, China.
    Xeroderma pigmentosum group G (XPG) recognizes and excises DNA damage on the 3' side during the DNA repair process. Previous studies indicated that XPG gene polymorphisms may associate with gastric cancer susceptibility, but results were inconsistent. We evaluated the association of five potentially functional XPG polymorphisms (rs2094258 C>T, rs751402 C>T, rs2296147 T>C, rs1047768 T>C, and rs873601 G>A) with gastric cancer susceptibility in 1142 gastric cancer cases and 1173 controls. Read More

    Squamous Cell Carcinoma in African Children with Xeroderma Pigmentosum: Three Case Reports.
    Case Rep Dermatol 2016 Sep-Dec;8(3):311-318. Epub 2016 Nov 15.
    Dermatology, Faculty of Health Sciences, University of Thies, Thies, Senegal.
    Introduction: Xeroderma pigmentosum is a rare autosomal recessive genetic disease. This disease predisposes patients to early-onset skin cancers, particularly squamous cell carcinoma. Here, we report 3 pediatric cases, including 2 deaths. Read More

    Correlation of DNA Repair Gene Polymorphisms With Clinical Outcome in Patients With Locally Advanced Non-Small-Cell Lung Cancer Receiving Induction Chemotherapy Followed by Surgery.
    Clin Lung Cancer 2017 Mar 9;18(2):178-188.e4. Epub 2016 Nov 9.
    Cancer Biology and Precision Medicine Program, Hospital Germans Trias i Pujol, Catalan Institute of Oncology, Badalona, Spain; Dr Rosell Oncology Institute, Quirón Dexeus University Hospital, Barcelona, Spain; Germans Trias i Pujol Health Sciences Institute and Hospital, Campus Can Ruti, Badalona, Spain.
    Objective: The aim of this study was to evaluate whether xeroderma pigmentosum group D (XPD) and ribonucleotide reductase subunit M1 (RRM1) polymorphisms influenced clinical outcome in patients with stage IIIA-B non-small-cell lung cancer (NSCLC) treated with neoadjuvant gemcitabine/cisplatin/docetaxel followed by surgery.

    Materials And Methods: A total of 109 patients with stage IIIA and IIIB NSCLC were prospectively genotyped to examine a potential association between XPD 312 (aspartic acid [Asp]/asparagine [Asn]), XPD 751 (lysine [Lys]/glutamine [Gln]), and RRM1 (-37 C/A) polymorphisms with response and survival.

    Results: The median survival was 32. Read More

    Pretreatment of Ferulic Acid Protects Human Dermal Fibroblasts against Ultraviolet A Irradiation.
    Ann Dermatol 2016 Dec 23;28(6):740-748. Epub 2016 Nov 23.
    Department of Biological Engineering, Graduate School of Engineering, Konkuk University, Seoul, Korea.
    Background: Approximately 90%~99% of ultraviolet A (UVA) ray reaches the Earth's surface. The deeply penetrating UVA rays induce the formation of reactive oxygen species (ROS), which results in oxidative stress such as photoproducts, senescence, and cell death. Thus, UVA is considered a primary factor that promotes skin aging. Read More

    Photo-enzymatic repair of UVB-induced DNA damage in the two-spotted spider mite Tetranychus urticae.
    Exp Appl Acarol 2017 Jan 21;71(1):15-34. Epub 2016 Nov 21.
    Laboratory of Ecological Information, Graduate School of Agriculture, Kyoto University, Kyoto, 606-8502, Japan.
    Ambient ultraviolet-B (UVB) radiation induces lethal effects in the two-spotted spider mite Tetranychus urticae, whereas photoreactivation by irradiation with ultraviolet-A and visible light (VIS) plays an important role to increase survival of mites irradiated by UVB. The physiological mechanisms and ecological significance of photoreactivation in terrestrial arthropods have not been shown clearly. We verified the biological impact and accumulation of DNA lesions by UVB irradiation and the repair of them by photoreactivation in T. Read More

    Impact of the Circadian Clock on UV-Induced DNA Damage Response and Photocarcinogenesis.
    Photochem Photobiol 2017 Jan 18;93(1):296-303. Epub 2016 Dec 18.
    Experimental and Systems Pharmacology, College of Pharmacy, Washington State University, Spokane, WA.
    The skin is in constant exposure to various external environmental stressors, including solar ultraviolet (UV) radiation. Various wavelengths of UV light are absorbed by the DNA and other molecules in the skin to cause DNA damage and induce oxidative stress. The exposure to excessive ultraviolet (UV) radiation and/or accumulation of damage over time can lead to photocarcinogenesis and photoaging. Read More

    The DNA-binding box of human SPARTAN contributes to the targeting of Polη to DNA damage sites.
    DNA Repair (Amst) 2017 Jan 29;49:33-42. Epub 2016 Oct 29.
    Institute of Genetics, Biological Research Centre, Hungarian Academy of Sciences, Szeged, Hungary. Electronic address:
    Inappropriate repair of UV-induced DNA damage results in human diseases such as Xeroderma pigmentosum (XP), which is associated with an extremely high risk of skin cancer. A variant form of XP is caused by the absence of Polη, which is normally able to bypass UV-induced DNA lesions in an error-free manner. However, Polη is highly error prone when replicating undamaged DNA and, thus, the regulation of the proper targeting of Polη is crucial for the prevention of mutagenesis and UV-induced cancer formation. Read More

    Transcriptional and Posttranslational Regulation of Nucleotide Excision Repair: The Guardian of the Genome against Ultraviolet Radiation.
    Int J Mol Sci 2016 Nov 4;17(11). Epub 2016 Nov 4.
    Department of Biological Science, Dong-A University, Busan 49315, Korea.
    Ultraviolet (UV) radiation from sunlight represents a constant threat to genome stability by generating modified DNA bases such as cyclobutane pyrimidine dimers (CPD) and pyrimidine-pyrimidone (6-4) photoproducts (6-4PP). If unrepaired, these lesions can have deleterious effects, including skin cancer. Mammalian cells are able to neutralize UV-induced photolesions through nucleotide excision repair (NER). Read More

    Correlation between gene polymorphisms of CYP1A1, GSTP1, ERCC2, XRCC1, and XRCC3 and susceptibility to lung cancer.
    Genet Mol Res 2016 Nov 3;15(4). Epub 2016 Nov 3.
    Guangdong Vocational College of Food and Drugs, Guangzhou, China.
    Lung cancer is a common malignant tumor that is characterized by high morbidity and poor prognosis. Studies suggest that an individual's genetic background affects the risk of developing lung cancer. Therefore, we investigated the relationship between gene polymorphisms and susceptibility to lung cancer. Read More

    Kinetics and thermodynamics of zinc(II) and arsenic(III) binding to XPA and PARP-1 zinc finger peptides.
    J Inorg Biochem 2016 Oct 2;163:45-52. Epub 2016 Aug 2.
    Department of Pharmaceutical Sciences, College of Pharmacy, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, USA. Electronic address:
    Inhibition of DNA repair is an established mechanism of arsenic co-carcinogenesis, and may be perpetuated by the binding of As(III) to key zinc finger (zf) DNA repair proteins. Validated molecular targets of As(III) include the first zinc finger domain of Poly (ADP-Ribose) Polymerase 1 (PARP-1), and the zinc finger domain of Xeroderma Pigmentosum Complementation Group A (XPA). In order to gain an understanding of the thermodynamic and kinetic parameters of the interaction of As(III) with these two zinc finger motifs, a fluorescence based approach was used to investigate Zn(II) and As(III) binding to synthetic model peptides corresponding to the zf motif of XPA and first zf motif of PARP-1, referred to in this paper as XPAzf and PARP-1zf-1, respectively. Read More

    Neurodegeneration in accelerated aging.
    Dan Med J 2016 Nov;63(11)
    The growing proportion of elderly people represents an increasing economic burden, not least because of age-associated diseases that pose a significant cost to the health service. Finding possible interventions to age-associated disorders therefore have wide ranging implications. A number of genetically defined accelerated aging diseases have been characterized that can aid in our understanding of aging. Read More

    Analysis of Drosophila p8 and p52 mutants reveals distinct roles for the maintenance of TFIIH stability and male germ cell differentiation.
    Open Biol 2016 Oct;6(10)
    Departamento de Genética del Desarrollo, Instituto de Biotecnología, Universidad Nacional Autónoma de México, Av Universidad 2001, Cuernavaca Morelos 62250, Mexico
    Eukaryotic gene expression is activated by factors that interact within complex machinery to initiate transcription. An important component of this machinery is the DNA repair/transcription factor TFIIH. Mutations in TFIIH result in three human syndromes: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Read More

    Role of DNA Repair Factor Xeroderma Pigmentosum Protein Group C in Response to Replication Stress As Revealed by DNA Fragile Site Affinity Chromatography and Quantitative Proteomics.
    J Proteome Res 2016 Dec 9;15(12):4505-4517. Epub 2016 Nov 9.
    Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University , Olomouc, Czech Republic.
    Replication stress (RS) fuels genomic instability and cancer development and may contribute to aging, raising the need to identify factors involved in cellular responses to such stress. Here, we present a strategy for identification of factors affecting the maintenance of common fragile sites (CFSs), which are genomic loci that are particularly sensitive to RS and suffer from increased breakage and rearrangements in tumors. A DNA probe designed to match the high flexibility island sequence typical for the commonly expressed CFS (FRA16D) was used as specific DNA affinity bait. Read More

    Epidemiological trends and clinicopathological features of cutaneous melanoma in sporadic and xeroderma pigmentosum Tunisian patients.
    Int J Dermatol 2017 Jan 26;56(1):40-48. Epub 2016 Oct 26.
    LR11IPT05 Laboratoire de Génomique Biomédicale et Oncogénétique, Université Tunis El Manar, Institut Pasteur de Tunis, Tunis, Tunisia.
    Background: Epidemiological features and trends of cutaneous melanoma (CM) in North-African populations remain unclear. Those populations are of particular interest as they belong to a mosaic of various other origins (sub-Saharan, European Ancestry, and North-African Berbers). The aim of this study is to draw epidemiological profile and clinicopathological features of CM in the Tunisian population. Read More

    Two mammalian homologs of yeast Rad23, HR23A and HR23B, as multifunctional proteins.
    Gene 2017 Jan 20;597:1-9. Epub 2016 Oct 20.
    Faculty of Science, Gakushuin University, Toshima-ku, Tokyo 171-8588, Japan; TARA Center, University of Tsukuba, Tsukuba, Ibaraki 305-8577, Japan. Electronic address:
    Mammalian cells express two homologs of yeast Rad23, the so-called homolog of Rad23 (HR23) proteins. The HR23 proteins were identified more than two decades ago as factors involved in initiation of global genome nucleotide excision repair (GG-NER) along with their interacting partner, xeroderma pigmentosum group C (XPC) protein. Because the HR23 genes encode proteins harboring ubiquitin-like (UBL) domains at their N-termini and two ubiquitin-associated (UBA) domains in their central- and C-terminal regions, the link between HR23 proteins and proteolytic degradation has been widely explored by several methods, including yeast two-hybrid screening and co-affinity purification. Read More

    Primary gingival squamous cell carcinoma in a xeroderma pigmentosum type C patient.
    J Eur Acad Dermatol Venereol 2016 Nov 9;30(11):e157-e158. Epub 2015 Nov 9.
    Service de dermatologie, Centre de référence des maladies génétiques à expression cutanée, Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Université Paris Descartes-Sorbonne Paris-Cité, Paris, France.

    Nucleotide excision repair of oxidised genomic DNA is not a source of urinary 8-oxo-7,8-dihydro-2'-deoxyguanosine.
    Free Radic Biol Med 2016 Oct 30;99:385-391. Epub 2016 Aug 30.
    Oxidative Stress Group, University of Leicester, Leicester, United Kingdom; Department of Genetics, University of Leicester, United Kingdom. Electronic address:
    Urinary 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodGuo) is a widely measured biomarker of oxidative stress. It has been commonly assumed to be a product of DNA repair, and therefore reflective of DNA oxidation. However, the source of urinary 8-oxodGuo is not understood, although potential confounding contributions from cell turnover and diet have been ruled out. Read More

    O(6)-2'-Deoxyguanosine-butylene-O(6)-2'-deoxyguanosine DNA Interstrand Cross-Links Are Replication-Blocking and Mutagenic DNA Lesions.
    Chem Res Toxicol 2016 Nov 4;29(11):1872-1882. Epub 2016 Nov 4.
    Department of Chemistry and Biochemistry, Concordia University , 7141 Sherbrooke Street West, Montréal, Québec H4B 1R6, Canada.
    DNA interstrand cross-links (ICLs) are cytotoxic DNA lesions derived from reactions of DNA with a number of anti-cancer reagents as well as endogenous bifunctional electrophiles. Deciphering the DNA repair mechanisms of ICLs is important for understanding the toxicity of DNA cross-linking agents and for developing effective chemotherapies. Previous research has focused on ICLs cross-linked with the N7 and N2 atoms of guanine as well as those formed at the N6 atom of adenine; however, little is known about the mutagenicity of O(6)-dG-derived ICLs. Read More

    Single-Molecule Imaging Reveals that Rad4 Employs a Dynamic DNA Damage Recognition Process.
    Mol Cell 2016 Oct 6;64(2):376-387. Epub 2016 Oct 6.
    Department of Pharmacology and Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA; University of Pittsburgh Cancer Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA. Electronic address:
    Nucleotide excision repair (NER) is an evolutionarily conserved mechanism that processes helix-destabilizing and/or -distorting DNA lesions, such as UV-induced photoproducts. Here, we investigate the dynamic protein-DNA interactions during the damage recognition step using single-molecule fluorescence microscopy. Quantum dot-labeled Rad4-Rad23 (yeast XPC-RAD23B ortholog) forms non-motile complexes or conducts a one-dimensional search via either random diffusion or constrained motion. Read More

    Cockayne syndrome: Clinical features, model systems and pathways.
    Ageing Res Rev 2017 Jan 6;33:3-17. Epub 2016 Aug 6.
    Laboratory of Molecular Gerontology, National Institute on Aging, Baltimore, MD, USA. Electronic address:
    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. Read More

    DNA repair genes polymorphisms and risk of colorectal cancer in Saudi patients.
    Arab J Gastroenterol 2016 Sep 27;17(3):117-120. Epub 2016 Sep 27.
    Department of Anatomy and Histology, Faculty of Medicine, Taif University, Al Taif, Saudi Arabia; Departments of Histology, Faculty of Medicine, Zagazig University, Zagazig, Egypt. Electronic address:
    Background And Study Aims: Polymorphisms in the DNA repair genes may influence individual capacity to repair DNA damage, which may be associated with increased genetic instability and carcinogenesis. Our aim was to evaluate the relation of genetic polymorphisms in 2 DNA repair genes, XPD Lys751Gln and XRCC1 (A399G), with colorectal cancer (CRC) susceptibility. We further investigated the potential effect of these DNA repair variants on clinicopathological parameters of CRC patients. Read More

    Understanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition.
    J Am Acad Dermatol 2016 Nov;75(5):855-870
    Department of Dermatology, Henry Ford Hospital, Detroit, Michigan. Electronic address:
    Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. This review will focus specifically on the syndromes with malignant potential, including xeroderma pigmentosum, Bloom syndrome, and Rothmund-Thomson syndrome. Read More

    XAB2 functions in mitotic cell cycle progression via transcriptional regulation of CENPE.
    Cell Death Dis 2016 Oct 13;7(10):e2409. Epub 2016 Oct 13.
    Institute of Cancer Stem Cell, Cancer Center, Dalian Medical University, Dalian, China.
    Xeroderma pigmentosum group A (XPA)-binding protein 2 (XAB2) is a multi-functional protein that plays critical role in processes including transcription, transcription-coupled DNA repair, pre-mRNA splicing, homologous recombination and mRNA export. Microarray analysis on gene expression in XAB2 knockdown cells reveals that many genes with significant change in expression function in mitotic cell cycle regulation. Fluorescence-activated cell scanner analysis confirmed XAB2 depletion led to cell arrest in G2/M phase, mostly at prophase or prometaphase. Read More

    Oxidative stress intensity-related effects of cadmium (Cd) and paraquat (PQ) on UV-damaged-DNA binding and excision repair activities in zebrafish (Danio rerio) embryos.
    Chemosphere 2017 Jan 2;167:10-18. Epub 2016 Oct 2.
    Department of Bioscience and Biotechnology and Center of Excellence for the Oceans, National Taiwan Ocean University, No.2, Pei-Ning Rd., Keelung 20224, Taiwan, Republic of China. Electronic address:
    Our earlier studies showed the inhibitory effects of cadmium (Cd) and paraquat (PQ) on the gene expression of DNA mismatch recognition proteins in zebrafish (Danio rerio) embryos. This study explored the effects of Cd and PQ on nucleotide excision repair (NER) capacity in zebrafish embryos. Exposure of embryos at 1 h post fertilization (hpf) to 3-5 μM Cd or 30-100 μM PQ for 9 h induced a 2-3-fold increase of oxidative stress, while a 6. Read More

    XPG Gene Polymorphisms Contribute to Colorectal Cancer Susceptibility: A Two-Stage Case-Control Study.
    J Cancer 2016 6;7(12):1731-1739. Epub 2016 Aug 6.
    Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Department of Experimental Research, Collaborative Innovation Center for Cancer Medicine, Guangzhou 510060, Guangdong, China.
    Previous studies have reported that xeroderma pigmentosum group G (XPG) gene polymorphisms may modulate colorectal cancer (CRC) susceptibility. In this study, we performed a two-stage case-control study to comprehensively investigate the associations of five polymorphisms in the XPG gene with CRC risk in 1,901 cases and 1,976 controls from Southern China, including rs2094258 C>T, rs751402 C>T, rs2296147 T>C, rs1047768 T>C and rs873601 G>A. After combining data from two stages, we found that three of the studied polymorphisms (rs2094258 C>T, rs751402 C>T, and rs873601 G>A) were significantly associated with CRC susceptibility. Read More

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