scholarly journals Nucleotide excision repair syndromes: molecular basis and clinical symptoms

1995 ◽  
pp. 71-77
Author(s):  
Dirk Bootsma ◽  
Geert Weeda ◽  
Wim Vermeulen ◽  
Hanneke Van Vuuren ◽  
Christine Troelstra ◽  
...  
Keyword(s):  
Nucleotide Excision Repair ◽  
Molecular Basis ◽  
Clinical Symptoms ◽  
Excision Repair ◽  
Nucleotide Excision

scholarly journals Nucleotide excision repair syndromes: molecular basis and clinical symptoms

1995 ◽  
Vol 347 (1319) ◽  
pp. 75-81 ◽  
Keyword(s):  
Nucleotide Excision Repair ◽  
Transcription Initiation ◽  
Clinical Symptoms ◽  
Excision Repair ◽  
Complementation Group ◽  
Molecular Defect ◽  
Cockayne's Syndrome ◽  
Nucleotide Excision ◽  
Group B ◽  
Deficiency Diseases

The phenotypic consequences of a nucleotide excision repair (NER) defect in man are apparent from three distinct inborn diseases characterized by hypersensitivity of the skin to ultraviolet light and a remarkable clinical and genetic heterogeneity. These are the prototype repair syndrome, xeroderma pigmentosum (XP) (seven genetic complementation groups, designated XP-A to XP-G), Cockayne’s syndrome (two groups: CS-A and CS-B) and PIBIDS, a peculiar photosensitive form of the brittle hair disease trichothiodystrophy (TTD, at least two groups of which one equivalent to XP-D). To investigate the mechanism of NER and to resolve the molecular defect in these NER deficiency diseases we have focused on the cloning and characterization of human DNA repair genes. One of the genes that we cloned is ERCC3 . It specifies a chromatin binding helicase. Transfection and microinjection experiments demonstrated that mutations in ERCC3 are responsible for XP complementation group B, a very rare form of XP that is simultaneously associated with Cockayne’s syndrome (CS). The ERCC3 protein was found to be part of a multiprotein complex (TFIIH) required for transcription initiation of most structural genes and for NER . This defines the additional, hitherto unknown vital function of the gene. This ERCC3 gene and several other ner genes involved in transcription initiation will be discussed.

scholarly journals Molecular Basis of DNA Quality Control for Mammalian Nucleotide Excision Repair

2015 ◽  
Vol 55 (3) ◽  
pp. 137-141
Author(s):  
Masaki AKITA ◽  
Kaoru SUGASAWA
Keyword(s):  
Quality Control ◽  
Nucleotide Excision Repair ◽  
Molecular Basis ◽  
Excision Repair ◽  
Dna Quality ◽  
Nucleotide Excision

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

2009 ◽  
Vol 10 (11) ◽  
pp. 756-768 ◽  
Author(s):  
James E. Cleaver ◽  
Ernest T. Lam ◽  
Ingrid Revet
Keyword(s):  
Nucleotide Excision Repair ◽  
Molecular Basis ◽  
Excision Repair ◽  
Nucleotide Excision

scholarly journals Molecular Mechanism of Global Genome Nucleotide Excision Repair

Acta Naturae ◽  
2014 ◽  
Vol 6 (1) ◽  
pp. 23-34 ◽  
Author(s):  
I. O. Petruseva ◽  
A. N. Evdokimov ◽  
O. I. Lavrik
Keyword(s):  
Nucleotide Excision Repair ◽  
Molecular Mechanisms ◽  
Clinical Symptoms ◽  
Excision Repair ◽  
Current Knowledge ◽  
Wide Spectrum ◽  
Double Helix ◽  
Repair Synthesis ◽  
Nucleotide Excision ◽  
Dna Repair Synthesis

Nucleotide excision repair (NER) is a multistep process that recognizes and eliminates a wide spectrum of damage causing significant distortions in the DNA structure, such as UV-induced damage and bulky chemical adducts. The consequences of defective NER are apparent in the clinical symptoms of individuals affected by three disorders associated with reduced NER capacities: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). These disorders have in common increased sensitivity to UV irradiation, greatly elevated cancer incidence (XP), and multi-system immunological and neurological disorders. The eucaryotic NER system eliminates DNA damage by the excision of 24-32 nt single-strand oligonucleotides from a damaged strand, followed by restoration of an intact double helix by DNA repair synthesis and DNA ligation. About 30 core polypeptides are involved in the entire repair process. NER consists of two pathways distinct in initial damage sensor proteins: transcription-coupled repair (TC-NER) and global genome repair (GG-NER). The article reviews current knowledge on the molecular mechanisms underlying damage recognition and its elimination from mammalian DNA.

scholarly journals Molecular basis for damage recognition and verification by XPC-RAD23B and TFIIH in nucleotide excision repair

DNA Repair ◽  
2018 ◽  
Vol 71 ◽  
pp. 33-42 ◽  
Author(s):  
Hong Mu ◽  
Nicholas E. Geacintov ◽  
Suse Broyde ◽  
Jung-Eun Yeo ◽  
Orlando D. Schärer
Keyword(s):  
Nucleotide Excision Repair ◽  
Molecular Basis ◽  
Excision Repair ◽  
Damage Recognition ◽  
Nucleotide Excision

A Molecular Basis for Damage Recognition in Eukaryotic Nucleotide Excision Repair

ChemBioChem ◽  
2008 ◽  
Vol 9 (1) ◽  
pp. 21-23 ◽  
Author(s):  
Orlando D. Schärer
Keyword(s):  
Nucleotide Excision Repair ◽  
Molecular Basis ◽  
Excision Repair ◽  
Damage Recognition ◽  
Nucleotide Excision

MITF controls the interface of nucleotide excision repair and transcription through direct regulation of GTF2H1

2015 ◽  
Vol 227 (03) ◽  
Author(s):  
M Seoane ◽  
J Strauss ◽  
AC Puller ◽  
M Noshiravani ◽  
S Feldhaus ◽  
...  
Keyword(s):  
Nucleotide Excision Repair ◽  
Excision Repair ◽  
Nucleotide Excision ◽  
Direct Regulation
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