Where Do New Genes Come From and How Do They Form?

Genes are fundamental units of heredity, segments of DNA that guide the production of proteins essential for biological processes. While often seen as stable blueprints, the origin of new genes is a dynamic aspect of life. This involves the emergence of novel genetic material, providing insights into life’s adaptability and diversity.

Gene Duplication

Gene duplication is a key mechanism for generating new genetic material. It involves the accidental copying of an existing gene or chromosome segment during DNA replication, often due to cellular errors like unequal crossing-over or retrotransposition. This results in an extra gene copy.

With two copies, one gene maintains its original function. The duplicate is then free from immediate selective pressure, allowing it to accumulate mutations without harming the organism. This provides evolutionary experimentation, as the spare copy can diverge and potentially acquire a new or altered function. The human globin gene family, specialized in oxygen transport, is a well-known example of successive duplications and divergences.

De Novo Gene Birth

De novo gene birth is another pathway for gene innovation, creating new genes from DNA sequences that previously did not code for proteins. Though less frequent than gene duplication, it shows genome adaptability. This involves non-coding DNA acquiring mutations that enable transcription into RNA and translation into a functional protein.

Mechanisms for these regions to gain necessary expression elements are still under investigation. Research in organisms like yeast shows de novo genes emerging and integrating into cellular networks. This demonstrates the genome’s capacity to repurpose non-functional DNA, leading to novel biological functions.

Other Pathways of Gene Innovation

Beyond duplication and de novo creation, other mechanisms contribute to the emergence of new genes or novel gene functions. These pathways involve reorganizing existing genetic elements, contributing to the genetic diversity that fuels evolutionary change.

Gene Fusion and Fission

Gene fusion and fission are structural changes in gene architecture. Gene fusion occurs when two separate genes merge into a single, hybrid gene, potentially creating a protein with combined or novel functions. Conversely, gene fission involves a single gene splitting into two distinct genes. These events reshape protein domains and are observed across various organisms, including fungi. Fusion genes, like the BCR-ABL gene in certain cancers, can also result from chromosomal rearrangements, altering protein activities.

Exon Shuffling

Exon shuffling is a mechanism where functional gene blocks, called exons, are rearranged or combined to form new genes. This process involves recombination within non-coding regions (introns) flanking exons. It can also be mediated by transposable elements, creating new combinations of protein domains. Proteins like the LDL receptor and tissue plasminogen activator are thought to have evolved through exon shuffling, creating novel functions by combining pre-existing modules.

Horizontal Gene Transfer (HGT)

Horizontal gene transfer (HGT) involves the movement of genetic material between different organisms, rather than from parent to offspring. This mechanism is common among bacteria and archaea, allowing rapid trait acquisition. For instance, HGT is crucial in the spread of antibiotic resistance among bacterial populations. While less frequent in complex organisms, HGT can occur in eukaryotes, allowing acquisition of new genes from another species and contributing to adaptation, as seen in some plants and insects.

The Evolutionary Significance of New Genes

The continuous emergence of new genes is crucial for evolution and life’s diversity. These novel genetic elements provide raw material for natural selection, introducing new functions and capabilities that lead to evolutionary innovations. New genes enable organisms to adapt to changing environments, develop novel traits, and resist diseases. This genetic novelty drives population divergence and contributes to new species formation. The ongoing birth of genes is a driving force behind the biological forms and functions observed across Earth’s ecosystems.