Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alcohol dehydrogenase activity has been measured in 186 iso-second chromosome lines--104 from seven Australian populations and 82 from six Chinese populations. Restriction endonuclease variation in the Adh gene region in these lines has previously been described (Jiang & Gibson, 1991). The mean ADH activity of AdhF and AdhS lines was significantly higher in the Chinese samples than in the Australian samples. In each population on both continents the mean activity of the AdhF lines is significantly higher than that of the AdhS lines. Six lines homozygous for a thermostability variant, AdhFChD (detected in four of the Chinese populations), had intermediate levels of ADH activity and protein amount. In a subset of the lines with the highest and lowest levels of ADH, there was a correlation of 0.69 between ADH activity and ADH CRM. None of the restriction site variants was consistently associated with the amount of ADH activity. Associations between BamHI (-7.2), the Adh polymorphism and ADH activity suggest that there are modifiers of ADH 5' to the gene. The deletion (0.2) at position -2.8 on the restriction map (Jiang & Gibson, 1991) was associated with increased levels of ADH activity in AdhS lines from China. Two unique insertions in the gene region were associated with low activity in AdhF lines and a null activity allele had a deletion removing most of exon 2. A single line with a duplication of a part of the Adh coding region and of the 5' regulatory section had relatively high ADH activity. Considering all the data, the main factor affecting ADH activity levels in populations is the frequency of AdhF.
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PMID:The alcohol dehydrogenase polymorphism in natural populations of Drosophila melanogaster: ADH activity variation restriction site polymorphism and the Adh cline. 134 40

Alcohol dehydrogenase null-activity alleles extracted from a number of natural populations of Drosophila melanogaster in Tasmania were shown to be molecularly similar by probing, with an oligonucleotide specific to an inserted region in intron 2 of the gene, genomic DNA amplified by the polymerase chain reaction. This insertion had previously been shown to be the cause of the loss of activity in one of the null alleles whose DNA sequence was known. Three Adh null alleles from mainland populations did not contain the insertion. Two of these null alleles, extracted from the Coffs Harbour population in different years, were cloned, and their DNA sequences showed that they were identical and that both had a 438-bp deletion which removed most of exon 2. The third null allele, identified in a sample of flies from Chateau Tahbilk, was shown by 4-bp restriction-endonuclease mapping to contain a 320-bp insertion in intron 1, although this may not be the cause of the loss of activity. The data show that at least three different Adh null alleles have been found in Australian populations and that at least two have been maintained as heterozygotes over a period of years.
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PMID:Molecular relationships between alcohol dehydrogenase null-activity alleles from natural populations of Drosophila melanogaster. 156 Jul 61

Genes that code for products involved in the physiology of a phenotype are logical candidates for explaining interindividual variation in that phenotype. We present a methodology for discovering associations between genetic variation at such candidate loci (assayed through restriction endonuclease mapping) with phenotypic variation at the population level. We confine our analyses to DNA regions in which recombination is very rare. In this case, the genetic variation at the candidate locus can be organized into a cladogram that represents the evolutionary relationships between the observed haplotypes. Any mutation causing a significant phenotypic effect should be imbedded within the same historical structure defined by the cladogram. We showed, in the first paper of this series, how to use the cladogram to define a nested analysis of variance (NANOVA) that was very efficient at detecting and localizing phenotypically important mutations. However, the NANOVA of haplotype effects could only be applied to populations of homozygous genotypes. In this paper, we apply the quantitative genetic concept of average excess to evaluate the phenotypic effect of a haplotype or group of haplotypes stratified and contrasted according to the nested design defined by the cladogram. We also show how a permutational procedure can be used to make statistical inferences about the nested average excess values in populations containing heterozygous as well as homozygous genotypes. We provide two worked examples that investigate associations between genetic variation at or near the Alcohol dehydrogenase (Adh) locus and Adh activity in Drosophila melanogaster, and associations between genetic variation at or near some apolipoprotein loci and various lipid phenotypes in a human population.
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PMID:A cladistic analysis of phenotype associations with haplotypes inferred from restriction endonuclease mapping. II. The analysis of natural populations. 314 19

Bursaphelenchus xylophilus isolate MPSy-1av was subcultured from pathotype MPSy-1. MPSy-1av is nonparasitic and does not establish in Pinus sylvestris, P. strobus, P. nigra, or P. taeda. This isolate produces ethanol as an end product of carbohydrate metabolism, whereas its parent pathotype, MPSy-1, does not. Alcohol dehydrogenase activity was easily detectable in homogenates of MPSy-1av but barely detectable in some homogenates of MPSy-1. Genomic differences were seen between MPSy-1 and M PSy-1av by restriction endonuclease analysis of total nematode DNA, and hybridization of DNA fragments to the alcohol dehydrogenase gene from Drosophila.
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PMID:Characterization of a Nonparasitic Isolate of Bursaphelenchus xylophilus. 1929 Jan 48