Evidence for the Occurrence of Intermediates during Mutation
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Journal Article Dinucleotide repeat polymorphisms at the D5S257 and D5S268 loci on chromosome 5p Get access L.E. Bernard, L.E. Bernard Department of Medical Genetics, 6174 University Boulevard, University of British ColumbiaVancouver, BCV6T1Z3, Canada Search for other works by this author on: Oxford Academic PubMed Google Scholar C.N. Kreklywich, C.N. Kreklywich Department of Medical Genetics, 6174 University Boulevard, University of British ColumbiaVancouver, BCV6T1Z3, Canada Search for other works by this author on: Oxford Academic PubMed Google Scholar S. Wood S. Wood Department of Medical Genetics, 6174 University Boulevard, University of British ColumbiaVancouver, BCV6T1Z3, Canada Search for other works by this author on: Oxford Academic PubMed Google Scholar Nucleic Acids Research, Volume 19, Issue 20, 25 October 1991, Page 5794, https://doi.org/10.1093/nar/19.20.5794 Published: 25 October 1991
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To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria.Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing.DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes.Mutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family.
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A compensatory mutation occurs when the fitness loss caused by one mutation is remedied by its epistatic interaction with a second mutation at a different site in the genome. This poorly understood biological phenomenon has important implications, not only for the evolutionary consequences of mutation, but also for the genetic complexity of adaptation. We have carried out the first direct experimental measurement of the average rate of compensatory mutation. An arbitrary selection of 21 missense substitutions with deleterious effects on fitness was introduced by site-directed mutagenesis into the bacteriophage phiX174. For each deleterious mutation, we evolved 8-16 replicate populations to determine the frequency at which a compensatory mutation, instead of the back mutation, was acquired to recover fitness. The overall frequency of compensatory mutation was approximately 70%. Deleterious mutations that were more severe were significantly more likely to be compensated for. Furthermore, experimental reversion of deleterious mutations revealed that compensatory mutations have deleterious effects in a wild-type background. A large diversity of intragenic compensatory mutations was identified from sequencing fitness-recovering genotypes. Subsequent analyses of intragenic mutation diversity revealed a significant degree of clustering around the deleterious mutation in the linear sequence and also within folded protein structures. Moreover, a likelihood analysis of mutation diversity predicts that, on average, a deleterious mutation can be compensated by about nine different intragenic compensatory mutations. We estimate that about half of all compensatory mutations are located extragenically in this organism.
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Arabidopsis DNA hypomethylation mutation, ddm1 , results in a variety of developmental abnormalities by slowly inducing heritable lesions at unlinked loci. Here, late‐flowering traits observed at high frequencies in independently‐established ddm1 lines were genetically characterized. In all of the four late‐flowering lines examined the traits were dominant and mapped to the same chromosomal region, which is close or possibly identical to the FWA locus. The ddm1 ‐induced phenotypic onsets are apparently not random mutation events, but specific to a group of genes, suggesting the underlying epigenetic mechanism. The DNA methylation mutant provide useful system for identifying epigenetically‐regulated genes important for plant development.
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ABSTRACT A mutant producing very high levels of the acetamidase enzyme encoded by the amdS gene has been isolated in a strain containing the amdA7 mutation, which itself causes high levels of this enzyme. Genetic analysis has shown that this mutation, designated amdI66, is adjacent to the amdS gene and is cis-dominant in its effect. The amdI66 mutation has little effect on amdS expression when present in strains not containing the amdA7 mutation. Two other amdA mutations investigated also interact with the amdI66 mutation to result in high acetamidase levels. No interaction between amdI66 and any of the other putative regulatory genes affecting amdS expression has been observed. The amdI66 mutation has been located by fine structure mapping at the extreme end of the controlling region, which has previously been defined by genetic mapping (Hynes 1979). Analysis of this region has been extended by mapping new mutations resulting in loss of amdS expression. One of these defines the most extreme site capable of mutation to loss of gene function found so far.
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Journal Article Viral K-ras detects two TaqI polymorphisms, one for KRAS1 on chromosome 6 and the other for KRAS2 on chromosome 12 Get access M. Okamoto, M. Okamoto Search for other works by this author on: Oxford Academic PubMed Google Scholar C. Sato, C. Sato Search for other works by this author on: Oxford Academic PubMed Google Scholar N. Tsuchida, N. Tsuchida 1Department of Oral Microbiology, Tokyo Medical and Dental UniversityYushima, Tokyo 113, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar M.C. Yoshida, M.C. Yoshida 2Chromosome Research Unit, Hokkaido UniversitySapporo 060, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar C. Ezawa, C. Ezawa Search for other works by this author on: Oxford Academic PubMed Google Scholar M. Miyaki M. Miyaki Search for other works by this author on: Oxford Academic PubMed Google Scholar Nucleic Acids Research, Volume 16, Issue 5, 11 March 1988, Page 2363, https://doi.org/10.1093/nar/16.5.2363 Published: 11 March 1988
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