Status: Bibliographieeintrag
Standort: ---
Exemplare:
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| Online-Ressource |
Verfasst von: | Schubert, Steffen [VerfasserIn]  |
| Gratchev, Alexei [VerfasserIn]  |
Titel: | A unique chromosomal in-frame deletion identified among seven XP-C patients |
Verf.angabe: | Steffen Schubert, Petra Rieper, Andreas Ohlenbusch, Christina Seebode, Janin Lehmann, Alexei Gratchev and Steffen Emmert |
E-Jahr: | 2016 |
Jahr: | 27 July 2016 |
Umfang: | 8 S. |
Fussnoten: | Gesehen am 04.01.2018 |
Titel Quelle: | Enthalten in: Photodermatology, photoimmunology & photomedicine |
Ort Quelle: | Oxford [u.a.] : Wiley-Blackwell, 1990 |
Jahr Quelle: | 2016 |
Band/Heft Quelle: | 32(2016), 5/6, Seite 276-283 |
ISSN Quelle: | 1600-0781 |
Abstract: | Background The nucleotide excision repair (NER) pathway, defective in xeroderma pigmentosum (XP) patients, removes DNA photolesions in order to prevent carcinogenesis. Complementation group C (XP-C) is the most frequent group of XP patients worldwide. Methods We analyzed seven XP-C patients clinically and molecular-genetically applying: post-UV cell survival (MTT-assay), quantitative Real-time PCR, sequencing on chromosomal as well as cDNA level, and in silico interpretation of sequencing data. Results All cases displayed diminished post-UV cell survival as well as reduced XPC mRNA levels. Five homozygous and two heterozygous disease causing mutations were identified. A large chromosomal deletion of ~5.8 kb identified in XP174MA leads to an unique in frame deletion of XPC exon 2 and exon 3. In silico analysis revealed the deletion of 102 amino acids in the N-terminal part of XPC while leaving the C-terminal domain intact. The novel c.361delA mutation in XP168MA leads to a frameshift in exon 3 resulting in a premature stop codon 27 codons downstream of the deleted adenine. Conclusion Our analysis confirms that XP-C patients without increased sun sensitivity develop non-melanoma skin cancers earlier than sun-sensitive XP-C patients. Reduced cellular mRNA levels are characteristic for XP complementation group C and qRT-PCR represents a rapid diagnostic tool. |
DOI: | doi:10.1111/phpp.12251 |
URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: http://dx.doi.org/10.1111/phpp.12251 |
| Volltext: http://onlinelibrary.wiley.com/doi/10.1111/phpp.12251/abstract |
| DOI: https://doi.org/10.1111/phpp.12251 |
Datenträger: | Online-Ressource |
Sprache: | eng |
Sach-SW: | skin cancer |
| sun sensitivity |
| xeroderma pigmentosum |
| XP complementation group C |
| XPC |
K10plus-PPN: | 1566859581 |
Verknüpfungen: | → Zeitschrift |
¬A¬ unique chromosomal in-frame deletion identified among seven XP-C patients / Schubert, Steffen [VerfasserIn]; 27 July 2016 (Online-Ressource)
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