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  • ASSOCIATION  (2)
  • DNA methylation  (2)
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  • 1
    Keywords: CANCER ; Germany ; COMMON ; POPULATION ; RISK ; GENE ; SAMPLE ; PATIENT ; SKIN ; SEQUENCE ; ASSOCIATION ; polymorphism ; POLYMORPHISMS ; single nucleotide polymorphism ; BREAST-CANCER ; NO ; MUTATION ; ACUTE LYMPHOBLASTIC-LEUKEMIA ; MELANOMA ; PATHOGENESIS ; REGION ; MALIGNANT-MELANOMA ; MELANOMA PATIENTS ; malignant melanoma ; SUSCEPTIBILITY GENE ; SINGLE ; molecular ; ONCOLOGY ; ASSOCIATIONS ; RE ; SINGLE NUCLEOTIDE POLYMORPHISMS ; analysis ; HAPLOTYPE ; HAPLOTYPES ; single-nucleotide ; PREDISPOSITION ; USA ; VITAMIN-D-RECEPTOR ; MEDICINE ; case control ; German ; case-control ; association study ; genetic analysis ; DNA-DAMAGE RESPONSE ; GERMLINE 657DEL5 MUTATION ; NBS1 ; NIJMEGEN-BREAKAGE-SYNDROME
    Abstract: The aim of this study was to investigate the role of NBS1 in the pathogenesis of malignant melanoma of the skin. To exclude the common 657del5 founder mutation, a total of 376 melanoma patients from Southern Germany were analyzed for sequence alterations in exon 6 of NBS1 by direct sequencing. Analyses revealed one 657del5 mutation and three nonsynonymous sequence variations in exon 6 of NBS1 (V210F, R215W, and F222L). Analysis of an additional sample of 629 melanoma patients and 604 controls revealed no F222L mutation, indicating that this newly identified sequence alteration is not a common polymorphism. In a case-control association study including 632 melanoma patients and 615 cancer-free control participants from Southern Germany, three publicly known single nucleotide polymorphisms located in the NBS1 gene region were analyzed. No significant associations between single nucleotide polymorphisms (rs9995, rs867185 and rs1063045) or referring calculated haplotypes and melanoma risk were identified. These results suggest that NBS1 does not play a major role in predisposition to melanoma in the Southern German population but that alterations of this gene might contribute to the risk of this cancer
    Type of Publication: Journal article published
    PubMed ID: 17496786
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  • 2
    Keywords: CANCER ; tumor ; Germany ; RISK ; GENE ; PATIENT ; IMPACT ; ASSOCIATION ; polymorphism ; VARIANTS ; BREAST ; breast cancer ; BREAST-CANCER ; MELANOMA ; TUMOR-SUPPRESSOR GENE ; cancer risk ; HIGH-RISK ; INDIVIDUALS ; familial cancer ; BREAST-CANCER RISK ; RE ; TUMOR-SUPPRESSOR ; VARIANT ; ENHANCEMENT ; tumor suppressor gene ; INCREASED RISK ; CANCER-RISK ; FAMILIAL BREAST ; familial breast cancer ; ARLTS1 ; multiple melanomas
    Abstract: Variants in the tumor suppressor gene ARLTS1 (ADP-ribosylation factor-like tumor-suppressor gene 1) have been shown to influence familial cancer risk. Both Cys148Arg and Trp149Stop were associated with an increased risk of familial or high-risk familial breast cancer, respectively. We studied the impact of these gene variants on melanoma risk, investigating 351 melanoma patients and 804 control subjects. While ARLTS1 Trp149Stop did not influence melanoma risk (OR = 0.83, 95% CI = 0.37-1.88, p = 0.65), Cys148Arg revealed a statistically significant association with an increased risk for heterozygous carriers (OR = 1.43, 95% CI = 1.05-1.95, p = 0.02). An additional risk enhancement, though statistically non-significant, was observed in individuals with multiple melanomas (OR = 2.33, 95 % CI = 0.87-6.26, p = 0.08). (c) 2006 Wiley-Liss, Inc
    Type of Publication: Journal article published
    PubMed ID: 16646072
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  • 3
    ISSN: 1617-4623
    Keywords: Key words Gene silencing ; Chromatin structure ; Transgene stability ; DNA methylation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The chromatin structures of two epigenetic alleles of a transgene were investigated by measuring the local accessibility of transgene chromatin to endonucleases. The two epialleles represented the active, hypomethylated state of a transgene in line 17-I of Petunia hybrida, and a transcriptionally inactive, hypermethylated derivative of the same transgene in line 17-IV. In nuclear preparations the inactive epiallele was significantly less sensitive to DNaseI digestion and nuclease S7 digestion than the transcriptionally active epiallele, whereas no significant differences in accessibility were observed between naked DNA samples of the two epialleles. Our data suggest that a condensed chromatin structure is specifically imposed on transcribed regions of the construct in line 17-IV. In contrast, in both epialleles the plasmid region of the transgene, which is not transcriptionally active in plants, retains the same accessibility to endonucleases as the chromosomal integration site. These data suggest that transcriptional inactivation is linked to the process of transcription, and imply that control of transgene expression via the use of inducible or tissue-specific promoters might prevent transgene silencing and conserve the active state of transgenes during sexual propagation.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1617-4623
    Keywords: DNA methylation ; Transgenic plants ; Isochore organisation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract We analysed de novo DNA methylation occurring in plants obtained from the transgenic petunia line R101-17. This line contains one copy of the maize A1 gene that leads to the production of brick-red pelargonidin pigment in the flowers. Due to its integration into an unmethylated genomic region the A1 transgene is hypomethylated and transcriptionally active. Several epigenetic variants of line 17 were selected that exhibit characteristic and somatically stable pigmentation patterns, displaying fully coloured, marbled or colourless flowers. Analysis of the DNA methylation patterns revealed that the decrease in pigmentation among the epigenetic variants was correlated with an increase in methylation, specifically of the transgene DNA. No change in methylation of the hypomethylated integration region could be detected. A similar increase in methylation, specifically in the transgene region, was also observed among progeny of R101-17del, a deletion derivative of R101-17 that no longer produces pelargonidin pigments due to a deletion in the A1 coding region. Again de novo methylation is specifically directed to the transgene, while the hypomethylated character of neighbouring regions is not affected. Possible mechanisms for transgene-specific methylation and its consequences for long-term use of transgenic material are discussed.
    Type of Medium: Electronic Resource
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