Pseudogene in the context of "Human genome"

Evidence of common descent of living organisms has been discovered by scientists researching in a variety of disciplines over many decades, demonstrating that all life on Earth comes from a single ancestor. This forms an important part of the evidence on which evolutionary theory rests, demonstrates that evolution does occur, and illustrates the processes that created Earth's biodiversity. It supports the modern evolutionary synthesis—the current scientific theory that explains how and why life changes over time. Evolutionary biologists document evidence of common descent, all the way back to the last universal common ancestor, by developing testable predictions, testing hypotheses, and constructing theories that illustrate and describe its causes.

Comparison of the DNA genetic sequences of organisms has revealed that organisms that are phylogenetically close have a higher degree of DNA sequence similarity than organisms that are phylogenetically distant. Genetic fragments such as pseudogenes, regions of DNA that are orthologous to a gene in a related organism, but are no longer active and appear to be undergoing a steady process of degeneration from cumulative mutations support common descent alongside the universal biochemical organization and molecular variance patterns found in all organisms. Additional genetic information conclusively supports the relatedness of life and has allowed scientists (since the discovery of DNA) to develop phylogenetic trees: a construction of organisms' evolutionary relatedness. It has also led to the development of molecular clock techniques to date taxon divergence times and to calibrate these with the fossil record.

Xist (X-inactive specific transcript) is a non-coding RNA transcribed from the X chromosome of the placental mammals that acts as a major effector of the X-inactivation process. It is a component of the Xic – X-chromosome inactivation centre – along with two other RNA genes (Jpx and Ftx) and two protein genes (Tsx and Cnbp2).

The Xist RNA, a large (17 kb in humans) transcript, is expressed on the inactive chromosome and not on the active one. It is processed in a similar way to mRNAs, through splicing and polyadenylation. However, it remains untranslated. It has been suggested that this RNA gene evolved at least partly from a protein-coding gene that became a pseudogene. The inactive X chromosome is coated with this transcript, which is essential for the inactivation. X chromosomes lacking Xist will not be inactivated, while duplication of the Xist gene on another chromosome causes inactivation of that chromosome.

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.)