How are genes named after their discovery?
The Jackson Laboratory

How are genes named after their discovery?

The nomenclature of genes is a fascinating and intricate process that reflects the complexity and diversity of life at the molecular level. Naming genes involves a systematic approach that adheres to specific guidelines to ensure consistency, clarity, and universal understanding among the scientific community. In this blog, we will delve into how genes are named, the rules and conventions involved, and some interesting examples of gene names.

The Importance of Gene Nomenclature

Gene nomenclature is crucial for several reasons:

Standardization: Provides a uniform language for scientists worldwide, facilitating clear communication and collaboration.

Identification: Helps in precisely identifying and distinguishing between different genes and their functions.

Research and Documentation: Aids in the accurate documentation and retrieval of genetic information in scientific literature and databases.

General Principles of Gene Nomenclature

The nomenclature of genes varies across different organisms, but there are general principles that guide the process:

1. Unique and Descriptive: Each gene is given a unique name that often describes its function, characteristic, or the phenotype it produces.

2. Species-Specific Conventions: Different organisms have their own specific rules and conventions for naming genes. For instance, the nomenclature for human genes differs from that of bacteria or plants.

3. Format and Style: Gene names are usually written in italics. Protein products of genes are written in regular font, and often the names are capitalized.

Human Gene Nomenclature

The Human Genome Organisation (HUGO) Gene Nomenclature Committee (HGNC) oversees the naming of human genes. Key guidelines include:

Gene Symbols: Typically consist of uppercase letters and are intended to be short (usually three to six characters). For example, TP53, where 'TP' stands for tumor protein and '53' denotes its molecular weight.

Gene Names: Provide a more descriptive identification of the gene’s function or characteristic. For example, TP53 is named "tumor protein p53."

Examples of Human Gene Names

BRCA1 (Breast Cancer 1): This gene is associated with susceptibility to breast cancer. Its name indicates its involvement in breast cancer.

CFTR (Cystic Fibrosis Transmembrane Conductance Regulator): This gene name describes its role in cystic fibrosis and its function as a transmembrane conductance regulator.

APOE (Apolipoprotein E): The name reflects its function in encoding a protein involved in lipid metabolism.

Bacterial Gene Nomenclature

In bacteria, gene names are typically written in lowercase italics and often consist of three-letter codes that describe the gene’s function, followed by a letter that distinguishes different genes within the same family.

lacZ: This gene encodes β-galactosidase, an enzyme involved in lactose metabolism in Escherichia coli.

recA: Refers to a gene involved in DNA repair and genetic recombination.

Drosophila Gene Nomenclature

The fruit fly (Drosophila melanogaster) has its own unique gene naming conventions. Gene names often reflect the phenotype observed when the gene is mutated.

eyeless (ey): The mutation in this gene leads to the development of flies without eyes.

wingless (wg): This gene, when mutated, results in flies with wing defects.

Plant Gene Nomenclature

In plants, gene nomenclature can be quite descriptive and varies among species.

Arabidopsis thaliana (a model plant):

FLC (FLOWERING LOCUS C): This gene is involved in controlling the flowering time of the plant.

GAI (GA-INSENSITIVE): Refers to a gene associated with gibberellin hormone signaling.

Gene Nomenclature in Other Organisms

Yeast (Saccharomyces cerevisiae):

HIS3: Refers to a gene involved in histidine biosynthesis.

Mouse (Mus musculus):

Lepr (Leptin receptor): A gene involved in energy homeostasis and body weight regulation.

The nomenclature of genes is a carefully curated process that ensures precision, consistency, and clarity in genetic research and communication. By adhering to specific guidelines and conventions, scientists can effectively share and build upon each other’s work, advancing our understanding of genetics and its applications in medicine, agriculture, and beyond. From human genes like BRCA1 to bacterial genes like lacZ, the names provide valuable insights into the function and importance of these fundamental biological components.

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