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Genome

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A genome is the complete set of genetic information for an organism or a cell. This information is stored in molecules called DNA or RNA. The study of these genomes is known as genomics. Scientists use genomics to understand how life functions and evolves.

Genome sizes
Genome sizes

The term was first used in 1920 by Hans Winkler. He was a professor of botany at the University of Hamburg in Germany. The word is likely a blend of "gene" and "chromosome." Understanding the genome is vital because it contains the instructions for building and operating life.

In eukaryotic cells, the genome is organized into several distinct parts. The most important part is the nuclear genome. This consists of linear DNA chromosomes located inside the cell nucleus. Most eukaryotes are diploid, meaning they have two copies of each chromosome. For humans, this includes 22 pairs of autosomes and two sex chromosomes. The standard human reference genome includes one copy of each of the 22 autosomes, plus one X and one Y chromosome.

Human karyotype with bands and sub-bands
Human karyotype with bands and sub-bands

Beyond the nucleus, other organelles hold their own genetic material. Mitochondria contain a small mitochondrial genome. In plants and algae, chloroplasts also contain a genome, often called a plastome. These organelle genomes are typically circular.

Genomes vary greatly in their structure and complexity. Viruses can have genomes made of either DNA or RNA. RNA virus genomes can be single-stranded or double-stranded. They may also be monopartit, meaning one molecule, or multipartit, meaning several segments. Prokaryotes, such as bacteria and archaea, usually have a single circular chromosome. Some bacteria also carry smaller, extra DNA molecules called plasmids. These plasmids carry important genetic information separate from the main chromosome. In some symbiotic bacteria, the genome is reduced, with only about 40% of the DNA encoding proteins.

Scientists study the genome by determining its sequence. A sequence is the specific order of nucleotides, which are the building blocks A, C, G, and T. Sequencing allows researchers to see the differences between individuals. This helps them understand genetic diversity within a species. The history of sequencing is filled with major milestones. In 1976, Walter Fiers established the first complete viral RNA-genome sequence. In 1977, Fred Sanger completed the first DNA-genome sequence for the virus φX174.

Part of DNA sequence prototypification of complete genome of virus 5418 nucleotides
Part of DNA sequence prototypification of complete genome of virus 5418 nucleotides

This was followed by the first bacterial genome in 1995 and the first eukaryotic genome in 1996.

The Human Genome Project represents one of the most significant efforts in science. It began in October 1990. By February 2001, scientists reported the first draft sequences of the human genome. Since then, technology has made sequencing much cheaper and faster. In 2013, researchers achieved a major feat by sequencing a Neanderthal genome. They extracted this DNA from a 130,000-year-old toe bone found in a Siberian cave. This work helps us connect the history of human evolution to our own genetic code.

A genome is not just a list of instructions for proteins. It contains both coding and noncoding sequences. Coding sequences are the parts that provide instructions to make proteins. However, noncoding sequences make up a massive portion of the genome. In humans, noncoding sequences account for 98% of the total DNA. This includes regulatory regions, introns, and repetitive DNA.

Genome size vs protein count
Genome size vs protein count

Interestingly, a larger genome does not always mean an organism has more genes. The size can vary by as much as 64,000-fold due to repetitive elements.

Repetitive DNA includes two main types: tandem repeats and transposable elements. Tandem repeats are short sequences that repeat head-to-tail. For example, telomeres use the repeat TTAGGG to protect chromosome ends. However, expansions in these repeats can cause disease, such as Huntington's disease. Transposable elements, or TEs, are sequences that can change their location. They can move by copying themselves or by cutting and pasting. In humans, these elements make up more than 45% of our DNA. These elements include LINEs, SINEs, and endogenous retroviruses. Their movement helps drive the evolution of eukaryotic genomes.

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🖼️ Images & Media (5)
File:UCSC human chromosome colours.png
UCSC human chromosome colours.png
File:Part of DNA sequence prototypification of complete genome of virus 5418 nucleotides.gif
Part of DNA sequence prototypification of...
File:Human karyotype with bands and sub-bands.png
Human karyotype with bands and sub-bands.png
File:Genome_size_vs_protein_count.svg
Genome_size_vs_protein_count.svg
File:Genome sizes.png
Genome sizes.png
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