• Seven xeroderma pigmentosum repair genes, XPA through XPG, have been identified. (medscape.com)
  • Seven complementation groups, XPA through XPG, corresponding to defects in the corresponding gene products of XPA through XPG genes, have been described. (medscape.com)
  • In addition to the defects in the repair genes, UV-B radiation also has immunosuppressive effects that may be involved in the pathogenesis of xeroderma pigmentosum. (medscape.com)
  • Briefly, miRNAs are expected to account for 1-5% of the human genome and to interfere with at least 30% of the protein-coding genes ( 4 , 5 ). (frontiersin.org)
  • Yet another group of genes associated with cancer formation regulates programmed cell death, or apoptosis. (the-scientist.com)
  • The normal function of the proteins expressed by these genes is to recognize superfluous, damaged, aged, or aberrant cells that must be eliminated. (the-scientist.com)
  • This domain occurred 2 times on human genes ( 5 proteins). (umbc.edu)
  • Many of the xeroderma pigmentosum genes are involved in a DNA-repair mechanism called nucleotide excision repair (NER). (news-medical.net)
  • In this process, the proteins produced by these genes have a variety of activities. (news-medical.net)
  • It plays an essential role in NUCLEOTIDE EXCISION REPAIR , and mutations in this protein are associated with XERODERMA PIGMENTOSUM . (online-medical-dictionary.org)
  • The basic defect in xeroderma pigmentosum is in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation. (medscape.com)
  • This protein is known to act as an important sensor in the Global Genome Nucleotide Excision Repair (GG-NER) by recognizing sites of UV-induced DNA lesions [ 2 ]. (biomedcentral.com)
  • One of the most versatile defense mechanisms against the accumulation of DNA damage is nucleotide excision repair, in which, among others, the Xeroderma pigmentosum group C (XPC) and group A (XPA) proteins are involved. (aacrjournals.org)
  • Centrin2 binds to xeroderma pigmentosum group C protein (XPC), stabilising it, and its presence slightly increases nucleotide excision repair (NER) activity in vitro. (nuigalway.ie)
  • This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. (sitoolsbiotech.com)
  • Versatile DNA damage detection by the global genome nucleotide excision repair protein XPC. (childrensmercy.org)
  • This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. (neobioscience.com)
  • Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. (medscape.com)
  • Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. (sitoolsbiotech.com)
  • Xeroderma pigmentosum is an autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. (abcam.cn)
  • Two complementation groups have been identified in CS and seven in XP. (arizona.edu)
  • This protein is an essential part (subunit) of a group of proteins known as the general transcription factor 2 H (TFIIH) complex. (medlineplus.gov)
  • Folding of proteins with WD-repeats: comparison of six members of the WD-repeat superfamily to the G protein beta subunit. (embl.de)
  • Members of this family include the signal-transducing G protein beta subunit, as well as other proteins that regulate signal transduction, transcription, pre-mRNA splicing, cytoskeletal organization, and vesicular fusion. (embl.de)
  • The XPB and XPD gene products are part of a 9-subunit protein complex (TFIIH) that is also needed for the open complex formation. (medscape.com)
  • Recognition of DNA Termini by the C-Terminal Region of the Ku80 and the DNA-Dependent Protein Kinase Catalytic Subunit. (proquest.com)
  • The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. (sitoolsbiotech.com)
  • Studies suggest that the XPB protein works together with XPD, another protein in the TFIIH complex that is produced from the ERCC2 gene, to start (initiate) gene transcription. (medlineplus.gov)
  • However, the only studied example of a WD-repeat protein, G beta, synthesized in vitro in a rabbit reticulocyte lysate, is unable to fold into a native structure without its partner protein G gamma. (embl.de)
  • They form into a protein complex that has helicase activity and is involved in a variety of DNA-related functions including replication elongation, RNA transcription, chromatin remodeling, and genome stability. (bvsalud.org)
  • Researchers at The Scripps Research Institute and Berkeley Lab including life scientists Priscilla Cooper , John Tainer (guest) and Li Fan (formerly with the Lab, now at Scripps) have determined the crystal structure of an enzyme called xeroderma pigmentosum group B (XPB) helicase. (lbl.gov)
  • Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. (nih.gov)
  • Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. (neobioscience.com)
  • Both mutations impact excision-repair cross-complementing proteins important for DNA repair during replication. (arizona.edu)
  • Mini-F protein that binds to a unique region for partition of mini-F plasmid DNA. (fred.net)
  • This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. (neobioscience.com)
  • We have cloned and characterized the Dictyostelium discoideum repE gene, a homolog of the human xeroderma pigmentosum (XP) group E gene which encodes a UV-damaged DNA binding protein. (nih.gov)
  • The predicted protein encodes a leucine zipper motif. (nih.gov)
  • Clinical studies of the skin of patients with xeroderma pigmentosum indicate prominent depletion of Langerhans cells induced by UV radiation. (medscape.com)
  • The UV-damaged DNA-binding protein (UV-DDB), which is impaired in XP group E patients, has also been implicated in damage recognition in global genomic NER, but its precise functions and its relationship to the XPC complex have not been elucidated. (embl-heidelberg.de)
  • When he's not caring for his patients, Dr. Bunick, who is an assistant professor of dermatology for Yale School of Medicine, conducts research on the three-dimensional protein structures that form the skin's barrier. (yalemedicine.org)
  • These patients were then divided into three groups for analysis: patients without BM (No-BM), patients with PM and patients with LM. (bvsalud.org)
  • Some patients have combined phenotypical features of Cockayne syndrome (CS) and xeroderma pigmentosum (XP) known as the XP-CS complex ( 216400 ). (arizona.edu)
  • XP patients with CS features fall into only three (B, D, G) of the XP groups. (arizona.edu)
  • Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients. (cdc.gov)
  • Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging. (cdc.gov)
  • Molecular analysis directs the prognosis, management and treatment of patients with xeroderma pigmentosum. (cdc.gov)
  • Previously we have shown that DDB2, a protein involved in the Global Genome Repair, interacts directly with PCNA and, in human cells, the loss of this interaction affects DNA repair machinery. (biomedcentral.com)
  • In this work, we have investigated whether DDB2 protein may influence the repair of a UV-damaged DNA plasmid into the cellular environment by applying the HCR method. (biomedcentral.com)
  • Moreover, the co-localization between DDB2 proteins and different NER factors recruited at DNA damaged sites was analysed by immunofluorescence and confocal microscopy. (biomedcentral.com)
  • The results have shown that DDB2 Wt recognize and repair the UV-induced lesions in plasmidic DNA transfected in the cells, whereas a delay in these processes were observed in the presence of DDB2 PCNA- , as also confirmed by the different extent of co-localization of DDB2 Wt and some NER proteins (such as XPG), vs the DDB2 mutant form. (biomedcentral.com)
  • To clarify this issue, we decided to apply a transfection-based assay, named Host Cell Reactivation (HCR), to investigate DNA lesions removal efficacy in the presence of DDB2 Wt protein or DDB2 mutated one. (biomedcentral.com)
  • WD-repeat proteins are a large family found in all eukaryotes and are implicated in a variety of functions ranging from signal transduction and transcription regulation to cell cycle control and apoptosis. (embl.de)
  • Centrosomes, the principal microtubule-organising centres in animal cells, contain centrins, small, conserved calcium-binding proteins unique to eukaryotes. (nuigalway.ie)
  • Identification and isolation of damage-recognition protein complexes from zebrafish(Danio rerio) early embryos. (ncl.edu.tw)
  • The mission of the Pittsburgh Center for HIV Protein Interactions (PCHPI) is to understand HIV maturation and the early cellular events of HIV infection by characterizing HIV-host cell protein interactions/complexes at a high-resolution, molecular level. (pitt.edu)
  • These complexes function in DNA repair pathways, primarily DNA MISMATCH REPAIR , where MutL/MLH1 and the MUTS DNA MISMATCH-BINDING PROTEIN are targeted to damaged DNA . (nih.gov)
  • Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. (wikipedia.org)
  • A rare inherited disorder, Xeroderma Pigmentosum (XP) is a photosensitive condition characterized by high susceptibility to skin cancers. (news-medical.net)
  • Unraveling the complexities of DNA-dependent protein kinase autophosphorylation. (proquest.com)
  • The SAD1/RAD53 protein kinase controls multiple checkpoints and DNA damage-induced transcription in yeast. (academicinfluence.com)
  • For initiation of the repair reaction at the genome-wide level, a complex containing one of the gene products involved in XP, the XPC protein, must bind to the damaged DNA site. (embl-heidelberg.de)
  • Following the m 6 A modification, methylated binding proteins precisely identify and bind to the modified RNA. (biomedcentral.com)
  • High information conservation implies that at least three proteins bind independently to F plasmid incD repeats. (fred.net)
  • A family of inhibitory proteins which bind to the REL PROTO-ONCOGENE PROTEINS and modulate their activity. (bvsalud.org)
  • In the CYTOPLASM, I-kappa B proteins bind to the transcription factor NF-KAPPA B. Cell stimulation causes its dissociation and translocation of active NF-kappa B to the nucleus. (bvsalud.org)
  • Several polymorphisms in TS may influence TS mRNA transcription, stability, or protein expression. (biomedcentral.com)
  • Contribution of xeroderma pigmentosum complementation group D gene polymorphisms in breast and ovarian cancer susceptibility: A protocol for systematic review and meta analysis. (cdc.gov)
  • Interestingly, we found that overexpression of the centrin interactor POC5 leads to the assembly of linear, centrin-dependent structures that recruit other centrosomal proteins such as PCM-1 and NEDD1. (nuigalway.ie)
  • Full length human recombinant protein of human XPF produced in HEK293 cell. (thermofisher.com)
  • The binding of 12-hr-old and 84-hr-old extracts to CPD- and 6-4PPs under various concentration of NaCl supported the possibility that different damage-recognition protein were expressed in zebrafish according to their developmental condition. (ncl.edu.tw)
  • several WD40-containing proteins act as key regulators of plant-specific developmental events. (embl.de)
  • The continued presence of repair proteins at sites of DNA damage may also contribute to the pathogenesis of cutaneous cancer, as has been shown in XPD. (medscape.com)
  • The distortion of the double helix caused by the CPDs is smaller than that of 6-4PPs, and their recognition is performed by the synchronized work of UV-DDB complex and XPC protein [ 3 ]. (biomedcentral.com)
  • A hexameric protein complex of minichromosome maintenance proteins. (bvsalud.org)
  • The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. (sitoolsbiotech.com)
  • Current projects are focused on CA and capsid interactions, proteins involved in trafficking and nuclear import, retroviral intasome structure, and analyses of the HIV-1 pre-integration complex. (pitt.edu)
  • Okuda Y, Nishi R, Ng JM, Vermeulen W, van der Horst GT, Mori T, Hoeijmakers JH, Hanaoka F, Sugasawa K. Relative levels of the two mammalian Rad23 homologs determine composition and stability of the xeroderma pigmentosum group C protein complex. (childrensmercy.org)
  • specifically, it replaces the amino acid threonine with the amino acid proline at protein position 119 (written as Thr119Pro or T119P). (medlineplus.gov)
  • Specifically, the variant replaces the amino acid phenylalanine with the amino acid serine at protein position 99 (written as Phe99Ser or F99S). (medlineplus.gov)
  • We chose proteins that include amino and carboxyl extensions as well as proteins that are made up entirely of WD-repeats. (embl.de)
  • Quinolines substituted in any position by one or more amino groups. (lookformedical.com)
  • We show that unlike G beta, several proteins with WD-repeats are able to fold into globular proteins in a rabbit reticulocyte lysate. (embl.de)
  • however, the XPF gene product functions as an endonuclease when complexed to another protein. (medscape.com)
  • Chemical inhibitor targeting the replication protein A-DNA interaction increases the efficacy of Pt-based chemotherapy in lung and ovarian cancer. (proquest.com)
  • The binding activity expressed in embryos was apparently unrelated to human DNA repair damage-recognition proteins XPA、RPA-70 and RPA-32, since those polypeptides recognized by an anti-human XPA、RPA-70 and RPA-32 antibody were detected only in 84-h-old zebrafish extracts. (ncl.edu.tw)
  • The DNA damage-recognition problem in human and other eukaryotic cell: the XPA damage binding protein. (ncl.edu.tw)
  • Characterization of DNA recognition by the human UV-damaged DNA-binding protein. (ncl.edu.tw)
  • DNA repair proteins that include the bacterial MutL protein and its eukaryotic homologs. (nih.gov)
  • WD40 repeats usually assume a 7-8 bladed beta-propeller fold, but proteins have been found with 4 to 16 repeated units, which also form a circularised beta-propeller structure. (embl.de)
  • The specificity of the proteins is determined by the sequences outside the repeats themselves. (embl.de)
  • Studies suggest that the XPB protein may act as a wedge, holding open the two strands of DNA so other proteins can snip out (excise) the abnormal section and replace the damaged area with the correct DNA. (medlineplus.gov)
  • If WD proteins form structures similar to G beta, their hydrodynamic properties should be those of compact, globular proteins, and they should be resistant to cleavage by trypsin. (embl.de)
  • Our working definition of folding was that the proteins from globular, trypsin-resistant structures because, except for G beta gamma, their functions are not known or cannot be assayed in reticulocyte lysates. (embl.de)
  • XPC as breast cancer susceptibility gene: evidence from genetic profiling, statistical inferences and protein structural analysis. (cdc.gov)
  • Exploring a structural protein-drug interactome for new therapeutics in lung cancer. (proquest.com)
  • Cancer stem cells (CSCs) represent a distinct group of cells within cancerous tissue that possess the ability to initiate tumorigenesis and exhibit potency, self-renewal, and drug resistance. (bmrat.org)
  • Effects of Xeroderma pigmentosum group C polymorphism on the likelihood of prostate cancer. (cdc.gov)
  • Immune surveillance plays a major role in the defense against virus-associated tumors, where the virally encoded transforming proteins provide readily recognizable foreign targets. (the-scientist.com)
  • Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequences. (fred.net)