Journal of Investigative Dermatology

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XPA tumor variant leads to defects in NER that sensitize cells to cisplatin

NAR Cancer

NMR analysis of the architecture and functional remodeling of a modular multidomain protein, RPA

J Am Chem Soc

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

Journal of medical genetics

Single-molecule visualization reveals the damage search mechanism for the human NER protein XPC-RAD23B

Nucleic Acids Res

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD(ND) ): Time to Move Beyond the Skin

Mov Disord

ApE, A Plasmid Editor: A Freely Available DNA Manipulation and Visualization Program

Front Bioinform

The active site of the DNA repair endonuclease XPF-ERCC1 forms a highly conserved nuclease motif

EMBO J

Mechanism of open complex and dual incision formation by human nucleotide excision repair factors

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Proc Natl Acad Sci U S A

MacroBac: New Technologies for Robust and Efficient Large-Scale Production of Recombinant Multiprotein Complexes

Methods Enzymol

Structural determinants for substrate binding and catalysis by the structure-specific endonuclease XPG

J Biol Chem

Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome

J Dermatol Sci

Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk

Human molecular genetics

XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients

Human mutation

Lesion recognition by XPC, TFIIH and XPA in DNA excision repair

Nature

Two interaction surfaces between XPA and RPA organize the preincision complex in nucleotide excision repair

Mutational analysis of a function of xeroderma pigmentosum group A (XPA) protein in strand-specific DNA repair

Structural basis of TFIIH activation for nucleotide excision repair

Nat Commun

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship

Neuroscience

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

Biochimie

Dynamic in vivo interaction of DDB2 E3 ubiquitin ligase with UV-damaged DNA is independent of damage-recognition protein XPC

J Cell Sci

DDB2 promotes chromatin decondensation at UV-induced DNA damage

J Cell Biol

Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum

Cancer Res

Double-check probing of DNA bending and unwinding by XPA-RPA: an architectural function in DNA repair

The UV-damaged DNA binding protein mediates efficient targeting of the nucleotide excision repair complex to UV-induced photo lesions

DNA Repair (Amst)

Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair

Cell

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

Nat Genet

High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia

American journal of human genetics

PlotsOfData-A web app for visualizing data together with their summaries

PLoS Biol

True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product

The comings and goings of nucleotide excision repair factors on damaged DNA

Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients

PLoS Genet

Characterization of a splicing mutation in group A xeroderma pigmentosum

Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene

Human genetics

Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum

Mutat Res

A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan

J Invest Dermatol

A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma

Br J Dermatol

Sensing of DNA damage by XPC/Rad4: one protein for many lesions

Nat Struct Mol Biol

Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair

Mol Cell

XPA: A key scaffold for human nucleotide excision repair

XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms

A key interaction with RPA orients XPA in NER complexes

The de-ubiquitylating enzymes USP26 and USP37 regulate homologous recombination by counteracting RAP80

A disease-associated XPA allele interferes with TFIIH binding and primarily affects transcription-coupled nucleotide excision repair

Transcription-Coupled DNA Repair: From Mechanism to Human Disorder

Trends in cell biology

Unscheduled DNA Synthesis at Sites of Local UV-induced DNA Damage to Quantify Global Genome Nucleotide Excision Repair Activity in Human Cells

Bio Protoc

ELOF1 is a transcription-coupled DNA repair factor that directs RNA polymerase II ubiquitylation

Nat Cell Biol

The cooperative action of CSB, CSA, and UVSSA target TFIIH to DNA damage-stalled RNA polymerase II

Sequential assembly of the nucleotide excision repair factors in vivo

A xeroderma pigmentosum patient having a high residual activity of unscheduled DNA synthesis after UV is assigned to complementation group A

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by defective nucleotide excision repair (NER), leading to extreme sensitivity to sunlight-induced skin pigmentation changes and increased skin cancer risk. XP patients present with varying severity, often influenced by specific variants in NER-associated genes. Here, we describe two unrelated Cypriot XP-A patients with a mild phenotype linked to a homozygous missense variant (c.389G>A, p.R130K). The older patient, aged 69, developed progressive neurological degeneration in his 40s, while the younger patient, aged 32, has no neurological abnormalities to date. Molecular analysis revealed a severe transcription-coupled NER (TC-NER) defect and reduced global genome repair (GG-NER) in patient fibroblasts, consistent with the XP-A diagnosis. Surprisingly, very low XPA protein levels were detected, despite the conservative amino acid substitution. Further experiments demonstrated that while the XPA

A splicing variant in XPA results in delayed onset of clinical features of xeroderma pigmentosum.

A splicing variant in XPA results in delayed onset of clinical features of xeroderma pigmentosum

A splicing variant in XPA results in delayed onset of clinical features of xeroderma pigmentosum

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