期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 92, 期 5, 页码 807-819出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2013.04.007
关键词
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资金
- Japan Society for the Promotion of Science [24681008, 24659533]
- Inamori Foundation
- Mochida Memorial Founds for Medical and Pharmaceutical Research
- Daiichi-Sankyo Foundation of Life Science
- Sumitomo Foundation
- Takeda Science Foundation
- Japan Science and Technology Agency
- Associazione Italiana per la Ricerca sul Cancro (AIRC)
- National Commissioning Group of the UK National Health Service (NHS)
- UK Department of Health via the National Institute for Health Research comprehensive Biomedical Research Centre award
- King's College London
- King's College Hospital NHS Foundation Trust
- Grants-in-Aid for Scientific Research [25293084, 25870534, 24390199, 24659533, 22710056, 24681008, 24790321, 25550033] Funding Source: KAKEN
- Medical Research Council [G0801130B] Funding Source: researchfish
Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of photodamage from actively transcribed genes. To date, all identified causative mutations for CS have been in the two known CS-associated genes, ERCC8 (GSA) and ERCC6 (CSB). For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG). In a previous report, we identified several CS cases who did not have mutations in any of these genes. In this paper, we describe three CS individuals deficient in ERCC1 or ERCC4 (XPF). Remarkably, one of these individuals with XP complementation group F (XP-F) had clinical features of three different DNA-repair disorders-CS, XP, and Fanconi anemia (FA). Our results, together with those from Bogliolo et al., who describe XPF alterations resulting in FA alone, indicate a multifunctional role for XPF.
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