A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype.
J Eur Acad Dermatol Venereol
; 29(12): 2479-82, 2015 Dec.
Article
em En
| MEDLINE
| ID: mdl-25393472
ABSTRACT
BACKGROUND:
The nucleotide excision repair (NER) pathway repairs UV-induced DNA lesions in an accurate fashion and prevents UV-irradiated areas of the skin from tumour formation. The XPA protein plays a major role in DNA damage demarcation as well as stabilization of other NER factors and was found to be defective in xeroderma pigmentosum (XP) complementation group A patients.OBJECTIVE:
Characterization of four new XP-A patients.METHODS:
Genomic and cDNA sequencing, post-UV cell survival of living cells, host-cell reactivation of patients' fibroblasts and Western blotting.RESULTS:
One of the four investigated patients shows a novel mutation leading to two different truncated protein variants. Three patients contain the already described p.R228X mutation. All patient cell lines exhibit a strong UVC sensitivity and reduced NER capability. In most of the cases stable protein expression was detected.CONCLUSION:
We discovered four new XP-A patients and a novel XPA mutation resulting in two diverse patient alleles.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Xeroderma Pigmentoso
/
RNA Mensageiro
/
Reparo do DNA
/
Proteína de Xeroderma Pigmentoso Grupo A
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article