What is a gene?

What is a gene?

Genes are the basic physical and functional units of inheritance. Genes are made up of DNA. Some genes act as instructions for making molecules called proteins. However, many genes do not encode proteins. In humans, genes vary in size from a few hundred DNA bases to over 2 million bases. An international research effort called the Human Genome Project is devoted to determining the sequence of the human genome and identifying the genes contained within it, with an estimated 20,000 to 25,000 genes in humans.

Everyone has two copies of each gene, one inherited from both parents. Most genes are the same in all people, but a few (less than 1% of the total) vary slightly from person to person. Alleles are forms of the same gene with small differences in the sequence of DNA bases. These small differences contribute to each person's unique physical characteristics.

Scientists track genes by giving them names. Because gene names can be long, genes are also assigned symbols, which are short combinations of letters (and sometimes numbers) that represent abbreviated forms of gene names. For example, the gene associated with cystic fibrosis on chromosome 7 is called cystic fibrosis transmembrane conductance regulator; its symbol is CFTR.

How do genes direct the production of proteins?

Most genes contain the information needed to make functional molecules called proteins. (Some genes make regulatory molecules that help cells assemble proteins.) The process from gene to protein is complex and tightly controlled within each cell. It consists of two main steps: transcription and translation. Transcription and translation together are called gene expression.

During transcription, the information stored in the DNA of a gene is passed to a similar molecule called RNA (ribonucleic acid) in the nucleus of the cell. Both RNA and DNA are made up of strands of building blocks called nucleotides, but they have slightly different chemical properties. The type of RNA that contains the information to make proteins is called messenger RNA (mRNA) because it carries the message, or information, from the DNA out of the nucleus into the cytoplasm.

Translation, the second step from gene to protein, takes place in the cytoplasm. mRNA interacts with special complexes called ribosomes, which "read" the mRNA nucleotide sequence. Each sequence of three nucleotides, called a codon, usually encodes a specific amino acid. (Amino acids are the building blocks of proteins.) A type of RNA called transfer RNA (tRNA) assembles the protein, one amino acid at a time. Protein assembly continues until the ribosome encounters a "stop" codon (a sequence of three nucleotides that does not encode an amino acid).

The flow of information from DNA to RNA to protein is one of the fundamental principles of molecular biology. It is so important that it is sometimes called the "central dogma."

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