ArticleThe Journal of experimental medicine2009
Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.
Article in The Journal of experimental medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 48 citations in OpenAlex.
- UV damage mapping reveals different impacts of yeast XPD mutations on global genomic and transcription-coupled DNA repair.The Journal of biological chemistry · 2026Article
- Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.PLoS genetics · 2024Article
- Molecular architecture and functional dynamics of the pre-incision complex in nucleotide excision repair.Nature communications · 2024Article
- Dynamic conformational switching underlies TFIIH function in transcription and DNA repair and impacts genetic diseases.Nature communications · 2023Article
- Ercc2/Xpd deficiency results in failure of digestive organ growth in zebrafish with elevated nucleolar stress.iScience · 2022Article
- Phosphorylation of XPD drives its mitotic role independently of its DNA repair and transcription functions.Science advances · 2022Article
- Trichothiodystrophy hair shafts display distinct ultrastructural features.Experimental dermatology · 2022Article
- Case report: Identification of a novel heterozygous germlineFrontiers in oncology · 2022Article
- Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B.Frontiers in genetics · 2022Article
- Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.BMC neurology · 2021Article
- Cytosolic sequestration of the vitamin D receptor as a therapeutic option for vitamin D-induced hypercalcemia.Nature communications · 2020Article
- Transcription preinitiation complex structure and dynamics provide insight into genetic diseases.Nature structural & molecular biology · 2019Article
- Clinical cancer research : an official journal of the American Association for Cancer Research · 2019Article
- Long range haplotyping of paired-homologous chromosomes by single-chromosome sequencing of a single cell.Scientific reports · 2018Article
- GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.American journal of human genetics · 2016Article
- Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- A Drosophila XPD model links cell cycle coordination with neuro-development and suggests links to cancer.Disease models & mechanisms · 2015Article
- Dynamic partnership between TFIIH, PGC-1α and SIRT1 is impaired in trichothiodystrophy.PLoS genetics · 2014Article
- Differences in clinical phenotype among patients with XP complementation group D: 3D structure and ATP-docking of XPD in silico.The Journal of investigative dermatology · 2014Article
- Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.European journal of human genetics : EJHG · 2013Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
Abstract
Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in the rare recessive genetic disorder xeroderma pigmentosum (XP). Many XP patients are compound heterozygotes with a "causative" XPD point mutation R683W and different second mutant alleles, considered "null alleles." However, there is marked clinical heterogeneity (including presence or absence of skin cancers or neurological degeneration) in these XPD/R683W patients, thus suggesting a contribution of the second allele. Here, we report XP patients carrying XPD/R683W and a second XPD allele either XPD/Q452X, /I455del, or /199insPP. We performed a systematic study of the effect of these XPD mutations on several enzymatic functions of TFIIH and found that each mutation exhibited unique biochemical properties. Although all the mutations inhibited the nucleotide excision repair (NER) by disturbing the XPD helicase function, each of them disrupted specific molecular steps during transcription: XPD/Q452X hindered the transactivation process, XPD/I455del disturbed RNA polymerase II phosphorylation, and XPD/199insPP inhibited kinase activity of the cdk7 subunit of TFIIH. The broad range and severity of clinical features in XP patients arise from a broad set of deficiencies in NER and transcription that result from the combination of mutations found on both XPD alleles.
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