Non-coding DNA in the context of "Transcription (genetics)"

A genome is all the genetic information of an organism or cell. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as regulatory sequences (see non-coding DNA), and often a substantial fraction of junk DNA with no evident function. Almost all eukaryotes have mitochondria and a small mitochondrial genome. Algae and plants also contain chloroplasts with a chloroplast genome.

The study of the genome is called genomics. The genomes of many organisms have been sequenced and various regions have been annotated. The first genome to be sequenced was that of the virus φX174 in 1977; the first genome sequence of a prokaryote (Haemophilus influenzae) was published in 1995; the yeast (Saccharomyces cerevisiae) genome was the first eukaryotic genome to be sequenced in 1996. The Human Genome Project was started in October 1990, and the first draft sequences of the human genome were reported in February 2001.

Neanderthal genetics testing became possible in the 1990s with advances in ancient DNA analysis. In 2008, the Neanderthal genome project published the full sequence Neanderthal mitochondrial DNA (mtDNA), and in 2010 the full Neanderthal genome. Genetic data is useful in testing hypotheses about Neanderthal evolution and their divergence from early modern humans, as well as understanding Neanderthal demography, and interbreeding between archaic and modern humans.

Modern humans and Neanderthals had multiple different interbreeding episodes, but Neanderthal-derived genes in the present-day human genome descends from an episode 250,000 years ago probably in Eurasia, and 47,000 to 65,000 years ago in the Near East. While 20% of the Neanderthal genome survives today, most people only carry about a few percentage points of Neanderthal DNA, and most Neanderthal-derived DNA is non-coding. Neanderthals maintained a low genetic diversity and suffered from inbreeding depression; consequently most Neanderthal genes were probably selected out of the gene pool. Barring hybrid incompatibility or negative selection, most Neanderthal DNA may descend from the children of modern human females and Neanderthal males. Neanderthals also interbred with Denisovans in the Siberian Altai Mountains.

Spacer DNA is a region of non-coding DNA between genes. The terms intergenic spacer (IGS) or non-transcribed spacer (NTS) are used particularly for the spacer DNA between the many tandemly repeated copies of the ribosomal RNA genes.

In bacteria, spacer DNA sequences are only a few nucleotides long. In eukaryotes, they can be extensive and include repetitive DNA, comprising the majority of the DNA of the genome. In ribosomal DNA, there are spacers within and between gene clusters, called internal transcribed spacer (ITS) and external transcribed spacers (ETS), respectively. In animals, the mitochondrial DNA genes generally have very short spacers. In fungi, mitochondrial DNA spacers are common and variable in length, and they may also be mobile.

Junk DNA (non-functional DNA) is a DNA sequence that has no known biological function. Most organisms have some junk DNA in their genomes—mostly pseudogenes and fragments of transposons and viruses—but it is possible that some organisms have substantial amounts of junk DNA.

All protein-coding regions are generally considered to be functional elements in genomes. Additionally, non-protein coding regions such as genes for ribosomal RNA and transfer RNA, regulatory sequences, origins of replication, centromeres, telomeres, and scaffold attachment regions are considered as functional elements. (See Non-coding DNA for more information.)

The human genome is a complete set of DNA sequences for each of the 22 autosomes and the two distinct sex chromosomes (X and Y). A small DNA molecule is found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome.

Human genomes include both genes and various other types of functional DNA elements. The latter is a diverse category that includes regulatory DNA scaffolding regions, telomeres, centromeres, and origins of replication. In addition, there are large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly repetitive sequences. Introns make up a large percentage of the human genome.

Cis-regulatory elements (CREs) or cis-regulatory modules (CRMs) are regions of non-coding DNA which regulate the transcription of neighboring genes. CREs are vital components of genetic regulatory networks, which in turn control morphogenesis, the development of anatomy, and other aspects of embryonic development, studied in evolutionary developmental biology.

CREs are found in the vicinity of the genes that they regulate. CREs typically regulate gene transcription by binding to transcription factors. A single transcription factor may bind to many CREs, and hence control the expression of many genes (pleiotropy). The Latin prefix cis means "on this side", i.e. on the same molecule of DNA as the gene(s) to be transcribed.

A conserved non-coding sequence (CNS) is a DNA sequence of noncoding DNA that is evolutionarily conserved. Sequence conservation is a useful marker of function, so conserved non-coding sequences are functional elements of the genome other than coding DNA.

Some of these functional elements include non-coding genes, regulatory sequences, scaffold attachment regions; origins of DNA replication; centromeres; and telomeres (see Non-coding DNA).

Evolvability is defined as the capacity of a system for adaptive evolution. Evolvability is the ability of a population of organisms to not merely generate genetic diversity, but to generate adaptive genetic diversity, and thereby evolve through natural selection.

In order for a biological organism to evolve by natural selection, there must be a certain minimum probability that new, heritable variants are beneficial. Random mutations, unless they occur in DNA sequences with no function, are expected to be mostly detrimental. Beneficial mutations are always rare, but if they are too rare, then adaptation cannot occur. Early failed efforts to evolve computer programs by random mutation and selection showed that evolvability is not a given, but depends on the representation of the program as a data structure, because this determines how changes in the program map to changes in its behavior. Analogously, the evolvability of organisms depends on their genotype–phenotype map. This means that genomes are structured in ways that make beneficial changes more likely. This has been taken as evidence that evolution has created fitter populations of organisms that are better able to evolve.