Home > A. Molecular pathology > gene


Tuesday 16 September 2003


Definition: A gene is a locus (or region) of DNA that encodes a functional RNA or protein product, and is the molecular unit of heredity.

The transmission of genes to an organism’s offspring is the basis of the inheritance of phenotypic traits. Most biological traits are under the influence of polygenes (many different genes) as well as the gene–environment interactions. Some genetic traits are instantly visible, such as eye colour or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that comprise life.

Genes can acquire mutations in their sequence, leading to different variants, known as alleles, in the population. These alleles encode slightly different versions of a protein, which cause different phenotype traits. Colloquial usage of the term "having a gene" (e.g., "good genes," "hair colour gene") typically refers to having a different allele of the gene. Genes evolve due to natural selection or survival of the fittest of the alleles.

The concept of a gene continues to be refined as new phenomena are discovered. For example, regulatory regions of a gene can be far removed from its coding regions, and coding regions can be split into several exons. Some viruses store their genome in RNA instead of DNA and some gene products are functional non-coding RNAs.

Therefore, a broad, modern working definition of a gene is any discrete locus of heritable, genomic sequence which affect an organism’s traits by being expressed as a functional product or by regulation of gene expression.

See also

- gene evolution, gene duplication
- gene mutation
- gene regulation
- gene imprinting (imprinted genes)
- fusion genes

Open references

- What is a gene, post-ENCODE? History and updated definition.
Gerstein MB, Bruce C, Rozowsky JS, Zheng D, Du J, Korbel JO, Emanuelsson O, Zhang ZD, Weissman S, Snyder M.
Genome Res. 2007 Jun;17(6):669-81. Review.
PMID: 17567988 (Free)


- Carlson EA. Defining the gene: an evolving concept. Am J Hum Genet. 1991 Aug;49(2):475-87. PMID: 1867208