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Dosage-Dependent Gene Regulation in Multicellular Eukaryotes: Implications for Dosage Compensation, Aneuploid Syndromes, and Quantitative Traits [PDF]
Developmental Biology, 2001 Evidence from a variety of data suggests that regulatory mechanisms in multicellular eukaryotes have evolved in such a manner that the stoichiometric relationship of the components of regulatory complexes affects target gene expression.
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Gene dosage and pathogenesis of Parkinson's disease
Trends in Molecular Medicine, 2005Four recent papers related specifically to the familial form of Parkinson's disease reinforce the idea that endogenous levels of alpha-synuclein can strongly influence disease phenotype. Two recent publications of alpha-synuclein-duplication mutations show that the severity of familial Parkinsonian phenotype is dependent upon SNCA gene dosage and ...
Jason L, Eriksen +2 more
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Regulation of MAL gene expression in yeast: Gene dosage effects
Molecular and General Genetics MGG, 1987Both the MAL1 and MAL6 loci in Saccharomyces strains have been shown by functional and structural studies to comprise a cluster of at least three genes necessary for maltose utilization. They include regulatory, maltose transport and maltase genes designated MALR, MALT and MALS, respectively.
Goldenthal, M +3 more
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Gene Dosage Compensation in Drosophila Melanogaster
1987The comparative lack of sexual dimorphism of apricot and other [sex-linked] genes studied is due to "sex-limitation", i.e., to a compensatory influence of the dosage difference between the sexes in respect to other genes in the X-chromosome. The facts are of particular interest from an evolutionary standpoint.
J C, Lucchesi, J E, Manning
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The Gene Balance Hypothesis: Dosage Effects in Plants
2014The concept of genomic balance traces to the early days of genetics. In recent years, studies of gene expression have found parallels to the classical phenotypic studies in that aneuploid changes have greater effects than whole genome changes. This has an explanation in terms of potential stoichiometric imbalances of the gene products encoded in the ...
Birchler, James A, Veitia, Reiner A
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Gene modulation in Drosophila: Dosage compensation and relocated v + genes
Biochemical Genetics, 1971The v + gene of Drosophila and its associated enzyme, tryptophan pyrrolase, were employed in a study of the relationship between dosage compensation and the location of the gene in the genome. Enzyme assays performed on various genotypes indicate that although differently positioned genes may specify different enzyme activities, they still show dosage ...
J, Tobler, J T, Bowman, J R, Simmons
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Gene modulation in Drosophila: Dosage compensation of Pgd + and Zw + genes
Biochemical Genetics, 1973The sex-linked Pgd+ and Zw+ genes of Drosophila melanogaster and their associated enzyme activities 6-phosphogluconate dehydrogenase and glucose 6-phosphate dehydrogenase were employed in an analysis of the relationship between dosage compensation and the location of genes in the genome.
J T, Bowman, J R, Simmons
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Gene dosage and susceptibility to insulin‐dependent diabetes
Annals of Human Genetics, 1980Summary1. All members of 33 families in which two or more sibs have insulin‐dependent diabetes mellitus (IDDM) were HLA‐typed. The results strongly support the hypothesis that, closely linked to the HLA region, there is a locus (S) for susceptibility to IDDM.
R S, Spielman, L, Baker, C M, Zmijewski
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CNS myelination and PLP gene dosage
Pharmacogenomics, 2001The phenomenon of gene dosage effects demonstrates that the mechanisms of some genetic diseases are best recognised at the genomic level. Classical gene mutation screening approaches utilising PCR are unsuccessful in unravelling the basis of disease because the gene sequence is unaltered and only the copy number is different.
K, Woodward, S, Malcolm
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Gene dosage effect in human triploid fibroblasts
Human Genetics, 1976The activity of 13 cytoplasmic enzymes has been determined in fibroblast extracts from 9 triploid and 13 control lines. The results show a high activity for 2 X-linked enzymes, glucose 6-phosphate dehydrogenase and phosphoglycerate kinase. These data, together with cytogenetic observations, support the contention that 2 X chromosomes were active in the
C, Junien +6 more
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