gene dosage


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gene dosage

the number of copies of a given GENE in a specific CELL or NUCLEUS.
References in periodicals archive ?
The selections that make up the main body of the text are devoted to expression noise, protein misfolding, and gene dosage in the evolution of genomes; transition metals and virulence in bacteria, evolution in the cycles of life, and a wide variety of other related subject areas.
This project confronts these challenges focusing on the paradigmatic case of two rare but uniquely informative disorders caused by symmetric gene dosage imbalances at 7q11.
Furthermore, the quantitative multiplex PCR allowed for the determination of gene dosage and the accurate identification of DMD deletion carriers (6).
PMP22 Gene Dosage Change: Potential Therapy for CMT1A
Mental retardation in DS is mainly a consequence of developmental and functional brain alterations caused by gene dosage imbalance.
The genetic sources of variation can be associated with the presence of the extra maternal set of chromosomes and can involve simple gene dosage (additivity) between chromosome sets or positive or negative dosage compensation effects (heterosis), epigenetic mechanisms, and transcriptional co-suppression (negative gene dosage compensation) [19].
These genomic changes can alter gene dosage (gene gains or losses) resulting in a change in cell function.
Two general hypotheses have been proposed to explain the DS phenotype: (1) the amplified developmental instability hypothesis suggesting that DS is the result of a disturbance of chromosome balance due to the additional chromosome material; and (2) the gene dosage hypothesis proposing that the DS phenotype stems directly from the effects of the overexpression of specific gene products on a portion of chromosome 21 (HSA21) and/or indirectly through the interaction of these genes with the whole genome, transcriptome (transcription events from DNA to RNA), or proteome (protein synthesis following the instructions listed in the genes).
Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects.
Specific topics addressed include riboswitches, catalytic strategies of self-cleaving ribozymes, the synthesis of protein, the world of small nuclear ribonucleoproteins, spliceosome structure and function, the biology of short RNAs, large noncoding RNAs in mammalian gene dosage regulation, automated in vitro selection and microarray applications for functional RNA sequences, and the prediction of RNA secondary structure.
In addition to combining resistance genes, interchange stocks allow evaluation of putative allelic relationships and gene dosage effects.
On the other hand, not every chemical reaction system leads to canalized relationships between gene dosage and phenotypic traits.