In biology, phylogenetics (/ˌfləˈnɛtɪks, -lə-/)[1][2][3] is the study of the evolutionary history and relationships among or within groups of organisms. These relationships are determined by phylogenetic inference methods that focus on observed heritable traits, such as DNA sequences, protein amino acid sequences, or morphology. The result of such an analysis is a phylogenetic tree—a diagram containing a hypothesis of relationships that reflects the evolutionary history of a group of organisms.[4]

The tips of a phylogenetic tree can be living taxa or fossils, and represent the "end" or the present time in an evolutionary lineage. A phylogenetic diagram can be rooted or unrooted. A rooted tree diagram indicates the hypothetical common ancestor of the tree. An unrooted tree diagram (a network) makes no assumption about the ancestral line, and does not show the origin or "root" of the taxa in question or the direction of inferred evolutionary transformations.[5]

In addition to their use for inferring phylogenetic patterns among taxa, phylogenetic analyses are often employed to represent relationships among genes or individual organisms. Such uses have become central to understanding biodiversity, evolution, ecology, and genomes.

Phylogenetics is component of systematics that uses similarities and differences of the characteristics of species to interpret their evolutionary relationships and origins. Phylogenetics focuses on whether the characteristics of a species reinforce a phylogenetic inference that it diverged from the most recent common ancestor of a taxonomic group.[6]

In the field of cancer research, phylogenetics can be used to study the clonal evolution of tumors and molecular chronology, predicting and showing how cell populations vary throughout the progression of the disease and during treatment, using whole genome sequencing techniques.[7] The evolutionary processes behind cancer progression are quite different from those in species and are important to phylogenetic inference; these differences manifest in at least four areas: the types of aberrations that occur, the rates of mutation, the intensity, and high heterogeneity - variability - of tumor cell subclones.[8]

Phylogenetics can also aid in drug design and discovery. Phylogenetics allows scientists to organize species and can show which species are likely to have inherited particular traits that are medically useful, such as producing biologically active compounds - those that have effects on the human body. For example, in drug discovery, venom-producing animals are particularly useful. Venoms from these animals produce several important drugs, e.g., ACE inhibitors and Prialt (Ziconotide). To find new venoms, scientists turn to phylogenetics to screen for closely related species that may have the same useful traits. The phylogenetic tree shows which species of fish have an origin of venom, and related fish they may contain the trait. Using this approach in studying venomous fish, biologists are able to identify the fish species that may be venomous. Biologist have used this approach in many species such as snakes and lizards.[9] In forensic science, phylogenetic tools are useful to assess DNA evidence for court cases. The simple phylogenetic tree of viruses A-E shows the relationships between viruses e.g., all viruses are descendants of Virus A.

HIV forensics uses phylogenetic analysis to track the differences in HIV genes and determine the relatedness of two samples. Phylogenetic analysis has been used in criminal trials to exonerate or hold individuals. HIV forensics does have its limitations, i.e., it cannot be the sole proof of transmission between individuals and phylogenetic analysis which shows transmission relatedness does not indicate direction of transmission.[10]

  1. ^ "phylogenetic". Unabridged (Online). n.d.
  2. ^ "phylogenetic". Dictionary.
  3. ^ from Greek φυλή/φῦλον [phylé/phylon] "tribe, clan, race", and γενετικός [genetikós] "origin, source, birth")Liddell, Henry George; Scott, Robert; Jones, Henry Stuart (1968). A Greek-English lexicon (9 ed.). Oxford: Clarendon Press. p. 1961.
  4. ^ "phylogeny". Biology online. Retrieved 15 February 2013.
  5. ^ Itzik, Peer (1 January 2001). "Phylogenetic Trees".
  6. ^ Harris, Katherine (23 June 2019). Taxonomy & Phylogeny. Biology LibreTexts. Retrieved 19 April 2023.
  7. ^ Herberts, Cameron; Annala, Matti; Sipola, Joonatan; Ng, Sarah W. S.; Chen, Xinyi E.; Nurminen, Anssi; Korhonen, Olga V.; Munzur, Aslı D.; Beja, Kevin; Schönlau, Elena; Bernales, Cecily Q.; Ritch, Elie; Bacon, Jack V. W.; Lack, Nathan A.; Nykter, Matti (August 2022). "Deep whole-genome ctDNA chronology of treatment-resistant prostate cancer". Nature. 608 (7921): 199–208. Bibcode:2022Natur.608..199H. doi:10.1038/s41586-022-04975-9. ISSN 1476-4687. PMID 35859180. S2CID 250730778.
  8. ^ Schwartz, Russell; Schäffer, Alejandro A. (April 2017). "The evolution of tumour phylogenetics: principles and practice". Nature Reviews Genetics. 18 (4): 213–229. doi:10.1038/nrg.2016.170. ISSN 1471-0056. PMC 5886015. PMID 28190876.
  9. ^ Cite error: The named reference :0 was invoked but never defined (see the help page).
  10. ^ Bernard, EJ; Azad, Y; Vandamme, AM; Weait, M; Geretti, AM (2007). "HIV forensics: pitfalls and acceptable standards in the use of phylogenetic analysis as evidence in criminal investigations of HIV transmission". HIV Medicine. 8 (6): 382–387. doi:10.1111/j.1468-1293.2007.00486.x. ISSN 1464-2662. PMID 17661846. S2CID 38883310.

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