Gene dosage

Gene dosage is the number of copies of a gene in a cell or genome. Copy number can affect the amount of RNA or protein produced, though regulation and gene context also matter.

Gene copy number: The number of copies of a particular gene in a cell or genome. It is the direct genomic quantity described by gene dosage.
Aneuploidy: A chromosome-number abnormality in which one or more chromosomes are present in extra or missing copies. Aneuploidy changes dosage for many genes at once.
Haploinsufficiency: A condition in which one functional gene copy does not produce enough gene product for normal function. It is the consequence of too little dosage for a dosage-sensitive gene.
Allele: One of two or more alternative forms of a genetic sequence at a particular genomic location. Alleles are gene copies whose sequence differences can modify dosage effects.
Expression quantitative trait locus: A genomic variant associated with differences in gene-expression levels among individuals. These loci help separate copy-number effects from other genetic influences on expression.
Gene expression: The processes by which information in a gene produces functional RNA or protein. Dosage can influence how much gene product is made, but does not determine expression alone.
Trisomy 21: A chromosome condition caused by an extra copy of chromosome 21. It is a well-known example of genome-wide dosage change affecting many genes.
Dominant-negative mutation: A mutation whose product interferes with the function of the normal product made by the other allele. It can mimic dosage-related dysfunction without changing gene copy number.
Chromosome: A DNA molecule packaged with proteins that carries genetic information in a cell. Chromosome number and structure set the copy counts of many genes.
Single-cell RNA sequencing: A method for measuring RNA abundance separately in individual cells. It can reveal cell-to-cell variation that bulk dosage and expression averages conceal.

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