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Gene

life science Maturity 9-11 Vital Level 3 Next article →

In biology, the term "gene" is used in two primary ways. The Mendelian gene refers to a basic unit of heredity that passes traits from parents to offspring. The molecular gene refers to a specific sequence of nucleotides within DNA. This molecular definition is more common in biochemistry and molecular biology. It describes the gene as a sequence that is transcribed to produce RNA.

DNA chemical structure 2
DNA chemical structure 2

Scientists use these different definitions to understand how life functions at both large and small scales.

To understand how a gene works, we must look at the process of gene expression. This is the method by which a cell synthesizes RNA or protein from a gene. First, the DNA sequence is copied into a molecule called RNA through transcription. This RNA molecule can then serve two different purposes. It might be directly functional on its own, or it might act as an intermediate template. This template is used to guide the synthesis of a protein.

DNA to protein or ncRNA
DNA to protein or ncRNA

There are two main types of molecular genes: protein-coding genes and non-coding genes.

Protein-coding genes are sequences that provide the instructions to build proteins. Non-coding genes are different because they produce functional RNA molecules instead of proteins. Examples of these include ribosomal RNA and tRNA. For a sequence of DNA to be considered a true gene, it must have a biological function. Some stretches of DNA produce transcripts that have no function, such as pseudogenes or "junk RNA" caused by errors. These non-functional sequences do not qualify as true genes.

RNA-codons-aminoacids
RNA-codons-aminoacids

This distinction is a vital part of modern molecular definitions.

Our understanding of these units began with the work of Gregor Mendel. Between 1857 and 1864, Mendel studied 8,000 common edible pea plants in the Austrian Empire. He tracked how distinct traits moved from parents to their offspring.

Gregor Mendel - American Breeders Magazine, 1910
Gregor Mendel - American Breeders Magazine, 1910

While he did not use the word "gene," he described discrete inherited units. His work helped establish the difference between a genotype and a phenotype. The genotype is the specific set of DNA sequences an individual possesses. The phenotype is the set of observable traits, such as eye color or blood type.

In 1909, the scientist Wilhelm Johannsen introduced the term "gene." He wanted a name that was free of complex hypotheses. He chose it to describe the "plans" or "foundations" that determine an organism's character. Later, in the 1940s and 1950s, scientists discovered that DNA is the molecular repository for this information. Researchers like Rosalind Franklin and Maurice Wilkins used X-ray crystallography to study DNA structure. This led James D. Watson and Francis Crick to propose a model of the double-stranded DNA molecule.

DNA chemical structure 2
DNA chemical structure 2

This discovery revealed how genetic information could be replicated.

Genes vary greatly in their physical size and complexity. In 1965, scientists estimated a typical gene was about 1,500 base pairs long. However, the discovery of introns in the 1970s changed this view. Introns are parts of a gene that are not part of the final functional product. This meant many eukaryotic genes are much larger than previously thought. For example, a typical mammalian protein-coding gene is about 62,000 base pairs in length. There are approximately 20,000 of these genes in a mammal.

Gene numbers
Gene numbers

These genes occupy about 35% to 40% of the mammalian genome.

Genes are also subject to change through mutations. A mutation is a change in the DNA sequence that creates a new variant called an allele. These alleles can lead to different phenotypic traits in a population. Over time, genes evolve through processes like natural selection and genetic drift. Sometimes, a gene can even be duplicated. When this happens, the new copy can eventually evolve to perform a completely new function. This constant change is what allows life to adapt and diversify over many generations.

Autosomal recessive - mini
Autosomal recessive - mini
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🖼️ Images & Media (10)
File:Gregor Mendel - American Breeders Magazine, 1910.jpg
Gregor Mendel - American Breeders...
File:DNA chemical structure 2.svg
DNA chemical structure 2.svg
File:NHGRI human male karyotype.png
NHGRI human male karyotype.png
File:Human karyotype with bands and sub-bands.png
Human karyotype with bands and sub-bands.png
File:RNA-codons-aminoacids.svg
RNA-codons-aminoacids.svg
File:DNA to protein or ncRNA.svg
DNA to protein or ncRNA.svg
File:Autosomal recessive - mini.svg
Autosomal recessive - mini.svg
File:Gene numbers.svg
Gene numbers.svg
File:Syn3 genome.svg
Syn3 genome.svg
File:Breeding transgenesis cisgenesis.svg
Breeding transgenesis cisgenesis.svg
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