cytidylyl-3--5--guanosine has been researched along with Phenylketonurias* in 2 studies
2 other study(ies) available for cytidylyl-3--5--guanosine and Phenylketonurias
Article | Year |
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Sequence specificity in CpG mutation hotspots.
CpG dinucleotides are efficiently methylated in vertebrate genomes except in the CpG islands having a high C+G content. Methylated CpGs are the single most mutated dinucleotide. Sequences surrounding disease causing CpG mutation sites were analyzed from locus-specific mutation databases. Both tetra- and heptanucleotide analyses indicated clear overall sequence preference for having pyrimidines 5' and purines 3' to the mutated 5-methylcytosine. The most mutated tetranucleotides are TCGA and TCGG, the former being also a frequent restriction and modification site. The results will help in elucidating the still controversial mutation mechanism of CpG doublets. Topics: Agammaglobulinaemia Tyrosine Kinase; Agammaglobulinemia; Base Sequence; Dinucleoside Phosphates; DNA Methylation; Factor VIII; Genes, p53; Genetic Linkage; Hemophilia A; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Protein-Tyrosine Kinases; X Chromosome | 1996 |
CpG dinucleotides are mutation hot spots in phenylketonuria.
The coding region of the phenylalanine hydroxylase (PAH) gene contains 22 CpG dinucleotides, including five doublets in the seventh exon of the gene. We hypothesized that CpG doublets could represent mutation hot spots in PAH deficiencies and we carried out the systematic sequence analysis of exon 7 in 20 unrelated PAH-deficient kindreds of Mediterranean ancestry. This procedure resulted in the detection of two novel missense mutations whose location and nature (CG to CA and CG to TG) were consistent with the accidental deamination of a 5-methylcytosine in a CpG doublet (codon 261arg----gln and codon 252arg----trp). Moreover, the codon 261 mutation was found to be associated with mutant restriction fragment length polymorphism (RFLP) haplotype 1, the most frequent mutant RFLP haplotype at the PAH locus in the studies reported thus far. However, since the mutation was detected in only 36% of haplotype 1 mutant alleles, it appears that this haplotype at the PAH locus is genotypically heterogeneous in Mediterranean countries. Topics: Amino Acid Sequence; Base Sequence; Dinucleoside Phosphates; Exons; Haplotypes; Humans; Molecular Sequence Data; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Polymorphism, Restriction Fragment Length | 1989 |