Genes (45)
Species: human : 44 mouse : 1 | |
Mouse | ERCC3 | 2071 | excision repair cross-complementing rodent repair deficiency, complementation group 3 | Characterization of the mouse homolog of the XPBC/ERCC-3 gene implicated in xeroderma pigmentosum and Cockayne;s syndrome. | Human | HIST1H2AA | 221613 | histone cluster 1, H2aa | The DDB1-CUL4ADDB2 ubiquitin ligase is deficient in xeroderma pigmentosum group E and targets histone H2A at UV-damaged DNA sites. | Human | POLI | 11201 | polymerase (DNA directed) iota | POLH and POLI are paralogs encoding low-fidelity, class Y, DNA polymerases involved in replication of damaged DNA in the human disease xeroderma pigmentosum variant. | Human | RAD54L | 8438 | RAD54-like (S. cerevisiae) | The hRAD54 protein belongs to a superfamily of DNA helicases, and mutations in genes with DNA helicase function have been found to be responsible for cancer-prone syndromes (xeroderma pigmentosum, Bloom syndrome, Werner syndrome). | Human | XRCC5 | 7520 | X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) | The assay has been validated on cellular systems with known repair defects such as xeroderma pigmentosum defective in nucleotide excision repair, on mutant rodent cell lines defective in DNA single strand break rejoining (XRCC1) (alkaline version) or DNA double strand breaks rejoining (XRCC5/Ku80 and XRCC7/DNAPKcs) (neutral conditions). These are the causative genes for Xeroderma pigmentosum (XPB and XPD), Cockayne syndrome (CSB), diffuse collagen disease (Ku80), alpha-thalassmia (ATR-X), Bloom syndrome (BLM), Werner syndrome (WRN) and Rothmund-Thomson syndrome (RTS). These are the causative genes for Xeroderma pigmentosum (XPB and XPD), Cockayne syndrome (CSB), diffuse collagen disease (Ku80), alpha-thalassmia (ATR-X), Bloom syndrome (BLM), Werner syndrome (WRN) and Rothmund-Thomson syndrome (RTS). The assay has been validated on cellular systems with known repair defects such as xeroderma pigmentosum defective in nucleotide excision repair, on mutant rodent cell lines defective in DNA single strand break rejoining (XRCC1) (alkaline version) or DNA double strand breaks rejoining (XRCC5/Ku80 and XRCC7/DNAPKcs) (neutral conditions). | Human | XRCC3 | 7517 | X-ray repair complementing defective repair in Chinese hamster cells 3 | Covered in the 17 talks were the autoproteolysis of O(6)-methylguanine DNA alkyltransferase in Escherichia coli; identification of new intermediates in meiotic recombination in Saccharomyces cerevisiae; the SMC (structural maintenance of chromosomes) family of proteins in Schizosaccharomyces pombe; transposition and V(D)J recombination; mammalian Rad51 foci formation in Rad54, Rad52, XRCC2 and XRCC3 mutants; biochemical analysis of DNA-PK, ATM (ataxia telangiectasia mutated) and ATR (AT related); other human DNA repair deficiencies and their incidence, including xeroderma pigmentosum and a new DNA ligase IV-deficient patient, and back, once again, to alkyltransferase, this time in humans and its manipulation for engineering drug resistance in bone marrow for cancer treatment. We investigated the association of urinary bladder cancer with genetic polymorphisms in the xeroderma pigmentosum complementation group C (XPC), group D (XPD) and group G (XPG), X-ray repair cross-complementing group 1 (XRCC1) and group 3 (XRCC3), Nijmegen breakage syndrome 1 (NBS1), cyclin D1, methylene-tetrahydrofolate reductase (MTHFR), NAD(P)H dehydrogenase quinone 1 (NQO1), H-ras and glutathione S-transferase theta 1 (GSTT1) genes. | Human | XRCC2 | 7516 | X-ray repair complementing defective repair in Chinese hamster cells 2 | Covered in the 17 talks were the autoproteolysis of O(6)-methylguanine DNA alkyltransferase in Escherichia coli; identification of new intermediates in meiotic recombination in Saccharomyces cerevisiae; the SMC (structural maintenance of chromosomes) family of proteins in Schizosaccharomyces pombe; transposition and V(D)J recombination; mammalian Rad51 foci formation in Rad54, Rad52, XRCC2 and XRCC3 mutants; biochemical analysis of DNA-PK, ATM (ataxia telangiectasia mutated) and ATR (AT related); other human DNA repair deficiencies and their incidence, including xeroderma pigmentosum and a new DNA ligase IV-deficient patient, and back, once again, to alkyltransferase, this time in humans and its manipulation for engineering drug resistance in bone marrow for cancer treatment. | Human | XPC | 7508 | xeroderma pigmentosum, complementation group C | Click here to display 25 evidence detail records. | Human | XPA | 7507 | xeroderma pigmentosum, complementation group A | Xeroderma pigmentosum group A protein loads as a separate factor onto DNA lesions Data suggest that lack of functional Xeroderma Pigmentosum A increases susceptibility of oxidative stress-induced genotoxicity while retaining cell viability posing as a potential cancer risk factor of Xeroderma Pigmentosum A patients In patients, with xeroderma pigmentosum the severity of clinical symptoms depends on the length of the XPA gene products | Human | WRN | 7486 | Werner syndrome, RecQ helicase-like | These are the causative genes for Xeroderma pigmentosum (XPB and XPD), Cockayne syndrome (CSB), diffuse collagen disease (Ku80), alpha-thalassmia (ATR-X), Bloom syndrome (BLM), Werner syndrome (WRN) and Rothmund-Thomson syndrome (RTS). These are the causative genes for Xeroderma pigmentosum (XPB and XPD), Cockayne syndrome (CSB), diffuse collagen disease (Ku80), alpha-thalassmia (ATR-X), Bloom syndrome (BLM), Werner syndrome (WRN) and Rothmund-Thomson syndrome (RTS). | Human | SSX2 | 6757 | synovial sarcoma, X breakpoint 2 | To shed more light on the etiology of spermatocytic seminomas, we undertook an immunohistochemical and molecular approach using SCP1 (synaptonemal complex protein 1), SSX (synovial sarcoma on X chromosome), and XPA (xeroderma pigmentosum type A) as targets. | Human | SMO | 6608 | smoothened, frizzled family receptor | Significantly high levels of ultraviolet-specific mutations in the smoothened gene are found in basal cell carcinomas from DNA repair-deficient xeroderma pigmentosum patients We present data showing unique SHH mutations in BCCs from repair-deficient, skin cancer-prone xeroderma pigmentosum (XP) patients, which are characterized by high levels of UV-specific mutations in key genes involved in skin carcinogenesis, including PATCHED and SMOOTHENED. Significantly high levels of ultraviolet-specific mutations in the smoothened gene in basal cell carcinomas from DNA repair-deficient xeroderma pigmentosum patients. Analysis of sporadic basal cell carcinomas and those from repair deficient xeroderma pigmentosum patients has revealed mutational inactivation of PATCHED and gain of function mutations of the proto-oncogenes, SMOOTHENED and SONIC HEDGEHOG associated with solar UV exposure. | Human | SHH | 6469 | sonic hedgehog | We present data showing unique SHH mutations in BCCs from repair-deficient, skin cancer-prone xeroderma pigmentosum (XP) patients, which are characterized by high levels of UV-specific mutations in key genes involved in skin carcinogenesis, including PATCHED and SMOOTHENED. Mutations in the receptor of SHH, the patched gene, have been characterized in sporadic BCCs as well as those from patients with the rare genetic syndromes nevoid BCC and xeroderma pigmentosum (XP). | Human | RPA1 | 6117 | replication protein A1, 70kDa | HSSB has a role other than generally stimulating synthesis by DNA polymerases, as it does not enhance the residual damage-dependent background synthesis displayed by repair-deficient extracts from xeroderma pigmentosum cells. | Human | RAD51 | 5888 | RAD51 recombinase | Covered in the 17 talks were the autoproteolysis of O(6)-methylguanine DNA alkyltransferase in Escherichia coli; identification of new intermediates in meiotic recombination in Saccharomyces cerevisiae; the SMC (structural maintenance of chromosomes) family of proteins in Schizosaccharomyces pombe; transposition and V(D)J recombination; mammalian Rad51 foci formation in Rad54, Rad52, XRCC2 and XRCC3 mutants; biochemical analysis of DNA-PK, ATM (ataxia telangiectasia mutated) and ATR (AT related); other human DNA repair deficiencies and their incidence, including xeroderma pigmentosum and a new DNA ligase IV-deficient patient, and back, once again, to alkyltransferase, this time in humans and its manipulation for engineering drug resistance in bone marrow for cancer treatment. | Human | RAD23B | 5887 | RAD23 homolog B (S. cerevisiae) | hHR23B is one of two human homologs of the Saccharomyces cerevisiae nucleotide excision repair (NER) gene product RAD23 and a component of a protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-C) cell extracts in vitro. Cells from humans with xeroderma pigmentosum group C do not perform NER in the bulk of the genome and are corrected by XPC protein, which forms a complex with hHR23B protein. hHR23B was originally isolated as a component of a protein complex that specifically complements nucleotide excision repair (NER) defects of xeroderma pigmentosum group C cell extracts in vitro and was identified as one of two human homologs of the Saccharomyces cerevisiae NER gene product Rad23. hHR23B is the human homologue of the yeast protein RAD23 and is known to participate in DNA repair by stabilizing xeroderma pigmentosum group C protein. The HHR23B protein is complexed with the protein defective in the cancer-prone repair syndrome xeroderma pigmentosum, complementation group C, and is specifically involved in the global genome NER subpathway. | Human | RAD23A | 5886 | RAD23 homolog A (S. cerevisiae) | hHR23A regulates the function of xeroderma pigmentosum C by its association with the nucleotide excision repair activator p53 | Human | PRKDC | 5591 | protein kinase, DNA-activated, catalytic polypeptide | The assay has been validated on cellular systems with known repair defects such as xeroderma pigmentosum defective in nucleotide excision repair, on mutant rodent cell lines defective in DNA single strand break rejoining (XRCC1) (alkaline version) or DNA double strand breaks rejoining (XRCC5/Ku80 and XRCC7/DNAPKcs) (neutral conditions). | Human | POLH | 5429 | polymerase (DNA directed), eta | Click here to display 25 evidence detail records. | Human | NPM1 | 4869 | nucleophosmin (nucleolar phosphoprotein B23, numatrin) | Cockayne syndrome patient-derived cell lines, CSAI and CSBI, and the Xeroderma pigmentosum patient-derived cell line, XP2OS(SV), XP13KY, XP3KA, XP6BE(SV), XP101OS and XP3BR(SV), have been investigated for their NPM mRNA expression with Northern blotting analysis. | Human | MRE11A | 4361 | MRE11 meiotic recombination 11 homolog A (S. cerevisiae) | UV-induced replication arrest in the xeroderma pigmentosum variant leads to DNA double-strand breaks, gamma -H2AX formation, and Mre11 relocalization. | Human | MNAT1 | 4331 | MNAT CDK-activating kinase assembly factor 1 | When the ternary Cdk-activating kinase (CAK) complex composed of Cdk7, cyclin H, and MAT1 was used as bait, the xeroderma pigmentosum (XP) D helicase of transcription factor IIH (TFIIH), among other proteins, was identified as an interacting partner. | Human | LIG4 | 3981 | ligase IV, DNA, ATP-dependent | These included cell lines derived from patients with ataxia telangiectasia, Nijmegen breakage syndrome, Fanconi anemia, defective Artemis, DNA ligase I and DNA ligase IV, an immunodeficient patient with a defect in DNA double-strand break repair, and a patient diagnosed with xeroderma pigmentosum who, in addition, showed severe clinical sensitivity to ionizing radiation. These included cell lines derived from patients with ataxia telangiectasia, Nijmegen breakage syndrome, Fanconi anemia, defective Artemis, DNA ligase I and DNA ligase IV, an immunodeficient patient with a defect in DNA double-strand break repair, and a patient diagnosed with xeroderma pigmentosum who, in addition, showed severe clinical sensitivity to ionizing radiation. Accelerated Telomere Shortening and Telomere Abnormalities in Radiosensitive Cell Lines. Radiat. Res. 164, 53-62 (2005).We examined telomere maintenance in cells of 11 primary fibroblast cell lines with differing genetic defects that confer sensitivity to ionizing radiation. | Human | H2AFX | 3014 | H2A histone family, member X | UV-induced replication arrest in the xeroderma pigmentosum variant (XPV) but not in normal cells leads to an accumulation of the Mre11/Rad50/Nbs1 complex and phosphorylated histone H2AX (gamma-H2AX) in large nuclear foci at sites of stalled replication forks. | Human | GTF2H4 | 2968 | general transcription factor IIH, polypeptide 4, 52kDa | The dysfunction of TFIIH could result in a large panel of genetic disorders, such as xeroderma pigmentosum, Cockayne;s syndrome and trichothiodystrophy. Mutations in some components of TFIIH are associated with three hereditary human syndromes: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). Mutations in the basal transcription initiation/DNA repair factor TFIIH are responsible for three human disorders: xeroderma pigmentosum (XP), cockayne syndrome (CS) and trichothiodystrophy (TTD). The involvement of some if not all of the TFIIH subunits in transcription and repair may explain the heterogeneity of the various and sometimes completely unrelated symptoms observed in xeroderma pigmentosum, Cockayne Syndrome and trichothiodystrophy disorders. TFIIH is a multiprotein factor involved in transcription and DNA repair and is implicated in DNA repair/transcription deficiency disorders such as xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Different mutations in genes encoding TFIIH subunits can result in the highly cancer-prone repair disorder xeroderma pigmentosum, or the noncancer-prone multisystem disorder trichothiodystrophy, the features of which are probably a consequence of abnormalities in transcription. |
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