Results 331 to 340 of about 7,614,096 (384)

Gene dosage effects: nonlinearities, genetic interactions, and dosage compensation.

Trends in Genetics, 2013
High-throughput genomic analyses have shown that many mutations, including loss-of-function (LOF) mutations, are present in diseased as well as in healthy individuals. Gene dosage effects due to deletions, duplications, and LOF mutations provide avenues to explore oligo- and multigenic inheritance. Here, we focus on several mechanisms that mediate gene
R. Veitia, S. Bottani, J. Birchler
semanticscholar   +3 more sources

Gene dosage imbalances: action, reaction, and models.

Trends in Biochemical Sciences, 2015
Single-gene deletions, duplications, and misregulation, as well as aneuploidy, can lead to stoichiometric imbalances within macromolecular complexes and cellular networks, causing their malfunction. Such alterations can be responsible for inherited or somatic genetic disorders including Mendelian diseases, aneuploid syndromes, and cancer. We review the
R. Veitia, M. Potier
semanticscholar   +4 more sources

Yeast histone genes show dosage compensation

Cell, 1981
The 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
openaire   +2 more sources

Chromosome 18 gene dosage map 2.0

Human Genetics, 2018
In 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, Patricia Heard, David Rupert, Minire Hasi-Zogaj, Annice Hill, Courtney Sebold, Daniel E. Hale   +6 more
openaire   +2 more sources

Regulation of MAL gene expression in yeast: Gene dosage effects

Molecular and General Genetics MGG, 1987
Both 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, VANONI, MARCO ERCOLE, Buchferer, B, Marmur, J.   +3 more
openaire   +2 more sources

Gene dosage and pathogenesis of Parkinson's disease

Trends in Molecular Medicine, 2005
Four 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, Serge, Przedborski, Leonard, Petrucelli   +2 more
openaire   +2 more sources

Gene Dosage Compensation in Drosophila Melanogaster

1987
The 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
openaire   +2 more sources

Gene dosage effect in human triploid fibroblasts

Human Genetics, 1976
The 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, H, Rubinson, J C, Dreyfus, M C, Meinenhofer, N, Ravise, J, Boué, A, Boué   +6 more
openaire   +2 more sources

Dosage balance in gene regulation: biological implications

Trends in Genetics, 2005
Classical 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, Nicole C, Riddle, Donald L, Auger, Reiner A, Veitia   +3 more
openaire   +2 more sources

CNS myelination and PLP gene dosage

Pharmacogenomics, 2001
The 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
openaire   +2 more sources