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Dosage balance in gene regulation: biological implications
Trends in Genetics, 2005Classical studies in genetics involving aneuploidy and ploidy comparisons and sex-determination mechanisms indicated a balance phenomenon such that changes of individual chromosomal dosage altered the phenotype more dramatically than changes in ploidy.
James A, Birchler +3 more
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Yeast histone genes show dosage compensation
Cell, 1981The copy number of yeast histone genes was increased by inserting an extra H2A,H2B gene pair into the haploid genome by the technique of yeast transformation. The presence of this extra gene copy has no detectable effect on cell growth. The steady-state levels of histone H2A,H2B mRNAs are not elevated in transformed strains, and they correspond to the ...
M A, Osley, L M, Hereford
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Phospholamban Gene Dosage Effects in the Mammalian Heart
Circulation Research, 1996Abstract Phospholamban ablation has been shown to result in significant increases in cardiac contractile parameters and loss of β-adrenergic stimulation. To determine whether partial reduction in phospholamban levels is also associated with enhancement of cardiac performance and to further examine the sensitivity of the ...
W, Luo +10 more
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Evolutionary constraints imposed by gene dosage balance
Frontiers in Bioscience, 2008The gene dosage balance hypothesis states that a concentration imbalance among components of macromolecules is often deleterious. Thus this notion potentially provides a mechanistic explanation for understanding genetic dominance and gene duplicability.
Han, Liang, Ariel, Fernandez
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Chromosome 18 gene dosage map 2.0
Human Genetics, 2018In 2009, we described the first generation of the chromosome 18 gene dosage maps. This tool included the annotation of each gene as well as each phenotype associated region. The goal of these annotated genetic maps is to provide clinicians with a tool to appreciate the potential clinical impact of a chromosome 18 deletion or duplication. These maps are
Jannine D. Cody +6 more
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Dosage of the Sts gene in the mouse.
American journal of human genetics, 1986In this study we compared steroid sulfatase levels in XO, XX, and XY mice and carried out a clonal analysis in fibroblast cell cultures from mice heterozygous for the steroid sulfatase deficiency gene and heterozygous at the X-linked electrophoretic phosphoglycerate kinase locus.
E, Keitges, S M, Gartler
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Gene dosage balance: deletions, duplications and dominance
Trends in Genetics, 2005The number of known human genes whose heterozygous null alleles lead to disease (i.e. haploinsufficient genes) is increasing. A recent update shows that they encode preferentially structural proteins, transcription regulators, signal transduction elements and various binding factors [1].
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An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genes
American Journal of Human Genetics, 2023exaly