Human xeroderma pigmentosum group D gene encodes a DMA helicase

@article{Sung1993HumanXP,
  title={Human xeroderma pigmentosum group D gene encodes a DMA helicase},
  author={Patrick Sung and Véronique Bailly and Christine A. Weber and Larry H. Thompson and Louise Prakash and Satya Prakash},
  journal={Nature},
  year={1993},
  volume={365},
  pages={852-855}
}
XERODERMA pigmentosum (XP), a genetically heterogeneous human disease, results from a defect in nucleotide excision repair of ultraviolet-damaged DNA. XP patients are extremely sensitive to sunlight and suffer from a high incidence of skin cancers. Cell fusion studies have identified seven XP complementation groups, A–G1–3. Group D is of particular interest as mutations in this gene can also cause Cockayne's syndrome and trichothiodystrophy4. The XPD gene was initially named ERCC2 (excision… Expand
Functional retroviral vector for gene therapy of xeroderma pigmentosum group D patients.
TLDR
The construction of a retroviral vector (LXPDSN) containing the XPD (ERCC2) cDNA is reported, which fully complements the DNA repair deficiency of primary skin fibroblasts and will be used to modify keratinocytes genetically to produce repair proficient reconstituted skin for engraftment to XP patients. Expand
Lethality in Yeast of Trichothiodystrophy (TTD) Mutations in the Human Xeroderma Pigmentosum Group D Gene
TLDR
It is concluded that XPD DNA helicase activity is not essential for transcription and infer that TTD mutations in XPD result in a defect in transcription, suggesting that T TD mutations impair the ability of XPD protein to function normally in RNA polymerase II transcription. Expand
The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.
  • A. Lehmann
  • Biology, Medicine
  • Genes & development
  • 2001
TLDR
The XPD gene, defective in XP individuals assigned to the XP-D complementation group, is the topic of this review. Expand
Xeroderma pigmentosum genes: functions inside and outside DNA repair.
TLDR
Differential functions in XPA through XPG are involved in nucleotide excision repair of DNA damage induced by UV as well as various chemical carcinogens, which explain clinical heterogeneity among different genetic complementation groups and have implications for the promotion of carcinogenic processes in XP patients. Expand
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy
TLDR
This work has identified causative mutations in XPD in four TTD patients and suggested relationships between different domains in the gene and its roles in excision repair and transcription. Expand
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
TLDR
Nucleotide sequence analysis of the ERCC2 cDNA from five XP group D cell strains revealed mutations predominantly affecting previously identified functional domains, including base substitutions resulting in amino acid substitutions, deletions due to splicing alterations, and defects in expression. Expand
Genome wide analysis of dna repair by expression profiling
Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are syndromes characterised by defects iqf nucleotide excision repair (NER), they can be distinguished by contrasting clinical manifestations.Expand
Codominance associated with overexpression of certain XPD mutations.
TLDR
It is concluded that the unscheduled DNA synthesis seen in these mutants is caused by abortive "repair" that does not contribute to cell survival, and Overexpression of mutant XPD alleles may provide a simple means of producing NER deficiency in other cell lines. Expand
Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.
TLDR
A mouse model for trichothiodystrophy is used that mimics an XPD point mutation of a TTD patient in the mouse germline and supports the notion that a NER deficiency enhances cancer susceptibility. Expand
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
TLDR
The mutations which are found in both XP and TTD patients behaved as null alleles, suggesting that the disease phenotype was determined by the other allele, and the remaining mutagenic pattern is consistent with the site of the mutation determining the phenotype. Expand
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TLDR
It is shown that RAD25 (SSL2) is an essential gene that functions in excision repair but not in other repair pathways, and a mutation of the Lys392 residue to arginine in the conserved Walker type A nucleotide-binding motif is lethal, suggesting an essential role of the putative RAD 25 ( SSL2) ATPase/DNA helicase activity in viability. Expand
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TLDR
The XPD group and the defects in cellular DNA repair are reviewed and the lack of correlation between repair and the appearance of neurological abnormalities is examined and the recent awareness that at least some members of two other inherited conditions, trichothiodystrophy and Cockayne's Syndrome, carry mutations in the XPD gene is discussed. Expand
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TLDR
Using the dark repair mechanism in microorganisms as a model, evidence has been presented that XP cells are defective in the incision step of DNA repair3–5. Expand
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TLDR
Findings suggest that transcription and nucleotide excision repair may share common factors and hence may be considered to be functionally related. Expand
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TLDR
The similarity of ERCC2 and RAD3 suggests a role for ER CC2 in both cell viability and DNA repair and provides the first insight into the biochemical function of a mammalian nucleotide excision repair gene. Expand
SSL2, a suppressor of a stem-loop mutation in the HIS4 leader encodes the yeast homolog of human ERCC-3
TLDR
It is proposed that SSL2 and ERCC-3 may have two functions, one defined by a UV repair defect, and a second essential function that is related to gene expression. Expand
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TLDR
In strains containing excision-defective mutations in any of nine genes in combination with the cdc9 mutation, the absence ofLow-molecular-weight DNA at the nonpermissive temperature after ultraviolet treatment suggests that these mutants are incision defective, whereas the presence of low-molescular- Weight DNA indicates that the mutants are defective in a step after incision. Expand
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TLDR
It is shown that the RAD3 protein also possesses a helicase activity that unwinds duplex regions in DNA substrates constructed by annealing DNA fragments of 71-851 nucleotides to circular, single-stranded M13 DNA. Expand
Mutation of lysine‐48 to arginine in the yeast RAD3 protein abolishes its ATPase and DNA helicase activities but not the ability to bind ATP.
TLDR
It is reported here that the point mutation of Lys‐48 to arginine abolishes the RAD3 ATPase and DNA helicase activities but not the ability to bind ATP, and it is indicated that the positive charge onArginine can replace that of the lysine residue in the binding of ATP but not in its hydrolysis. Expand
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TLDR
The results support the idea that phosphorylation of the CTD lies on the pathway of transcription initiation and identify a catalytic activity of a general factor essential for the initiation process. Expand
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