History of genetics

The history of genetics started with the work of the Augustinian friar Gregor Johann Mendel. His work on pea plants, published in 1866, described what came to be known as Mendelian Inheritance. In the centuries before—and for several decades after—Mendel's work, a wide variety of theories of heredity proliferated.

The year 1900 marked the "rediscovery of Mendel" by Hugo de Vries, Carl Correns and Erich von Tschermak, and by 1915 the basic principles of Mendelian genetics had been applied to a wide variety of organisms—most notably the fruit fly Drosophila melanogaster. Led by Thomas Hunt Morgan and his fellow "drosophilists", geneticists developed the Mendelian model, which was widely accepted by 1925. Alongside experimental work, mathematicians developed the statistical framework of population genetics, bringing genetic explanations into the study of evolution.

With the basic patterns of genetic inheritance established, many biologists turned to investigations of the physical nature of the gene. In the 1940s and early 1950s, experiments pointed to DNA as the portion of chromosomes (and perhaps other nucleoproteins) that held genes. A focus on new model organisms such as viruses and bacteria, along with the discovery of the double helical structure of DNA in 1953, marked the transition to the era of molecular genetics.

In the following years, chemists developed techniques for sequencing both nucleic acids and proteins, while others worked out the relationship between the two forms of biological molecules: the genetic code. The regulation of gene expression became a central issue in the 1960s; by the 1970s gene expression could be controlled and manipulated through genetic engineering. In the last decades of the 20th century, many biologists focused on large-scale genetics projects, sequencing entire genomes.

Pre-Mendelian ideas on heredity

See also: Heredity

Ancient theories

The most influential early theories of heredity were that of Hippocrates and Aristotle. Hippocrates' theory (possibly based on the teachings of Anaxagoras) was similar to Darwin's later ideas on pangenesis, involving heredity material that collects from throughout the body. Aristotle suggested instead that the (nonphysical) form-giving principle of an organism was transmitted through semen (which he considered to be a purified form of blood) and the mother's menstrual blood, which interacted in the womb to direct an organism's early development. For both Hippocrates and Aristotle—and nearly all Western scholars through to the late 19th century—the inheritance of acquired characters was a supposedly well-established fact that any adequate theory of heredity had to explain. At the same time, individual species were taken to have a fixed essence; such inherited changes were merely superficial.[1]

In the Charaka Samhita of 300CE, Ayurveda saw the characteristics of the child as determined by four factors: 1) those from the mother’s reproductive material, (2) those from the father’s sperm, (3) those from the diet of the pregnant mother and (4) those accompanying the soul which enters into the foetus. Each of these four factors had four parts creating sixteen factors of which the karma of the parents and the soul determined which attributes predominated and thereby gave the child its characteristics.[2]

In the 9th century CE, the Afro-Arab writer Al-Jahiz considered the effects of the environment on the likelihood of an animal to survive.[3]

In 1000 CE, the Arab physician, Abu al-Qasim al-Zahrawi (known as Albucasis in the West) was the first physician to describe clearly the hereditary nature of haemophilia in his Al-Tasrif.[4]

In 1140 CE, Judah HaLevi described dominant and recessive genetic traits in The Kuzari.[5]

Plant systematics and hybridization

In the 18th century, with increased knowledge of plant and animal diversity and the accompanying increased focus on taxonomy, new ideas about heredity began to appear. Linnaeus and others (among them Joseph Gottlieb Kölreuter, Carl Friedrich von Gärtner, and Charles Naudin) conducted extensive experiments with hybridization, especially species hybrids. Species hybridizers described a wide variety of inheritance phenomena, include hybrid sterility and the high variability of back-crosses.[6]

Plant breeders were also developing an array of stable varieties in many important plant species. In the early 19th century, Augustin Sageret established the concept of dominance, recognizing that when some plant varieties are crossed, certain characters (present in one parent) usually appear in the offspring; he also found that some ancestral characters found in neither parent may appear in offspring. However, plant breeders made little attempt to establish a theoretical foundation for their work or to share their knowledge with current work of physiology,[7] although Gartons Agricultural Plant Breeders in England explained their system.

Mendel

In breeding experiments between 1856 and 1865, Gregor Mendel first traced inheritance patterns of certain traits in pea plants and showed that they obeyed simple statistical rules. Although not all features show these patterns of Mendelian inheritance, his work acted as a proof that application of statistics to inheritance could be highly useful. Since that time many more complex forms of inheritance have been demonstrated.

From his statistical analysis Mendel defined a concept that he described as a character (which in his mind holds also for "determinant of that character"). In only one sentence of his historical paper he used the term "factors" to design the "material creating" the character: " So far as experience goes, we find it in every case confirmed that constant progeny can only be formed when the egg cells and the fertilizing pollen are of like character, so that both are provided with the material for creating quite similar individuals, as is the case with the normal fertilization of pure species. We must therefore regard it as certain that exactly similar factors must be at work also in the production of the constant forms in the hybrid plants."(Mendel, 1866).

Mendel's work was published in 1866 as "Versuche über Pflanzen-Hybriden" (Experiments on Plant Hybridization) in the Verhandlungen des Naturforschenden Vereins zu Brünn (Proceedings of the Natural History Society of Brünn), following two lectures he gave on the work in early 1866.

Post-Mendel, pre-re-discovery

Mendel's work was published in a relatively obscure scientific journal, and it was not given any attention in the scientific community. Instead, discussions about modes of heredity were galvanized by Darwin's theory of evolution by natural selection, in which mechanisms of non-Lamarckian heredity seemed to be required. Darwin's own theory of heredity, pangenesis, did not meet with any large degree of acceptance. A more mathematical version of pangenesis, one which dropped much of Darwin's Lamarckian holdovers, was developed as the "biometrical" school of heredity by Darwin's cousin, Francis Galton. Under Galton and his successor Karl Pearson, the biometrical school attempted to build statistical models for heredity and evolution, with some limited but real success, though the exact methods of heredity were unknown and largely unquestioned.

Emergence of molecular genetics

The significance of Mendel's work was not understood until early in the twentieth century, after his death, when his research was re-discovered by other scientists working on similar problems: Hugo de Vries, Carl Correns and Erich von Tschermak. There was then a feud between Bateson and Pearson over the hereditary mechanism, solved by Fisher in his work "The Correlation Between Relatives on the Supposition of Mendelian Inheritance".

In 1910, Thomas Hunt Morgan showed that genes reside on specific chromosomes. He later showed that genes occupy specific locations on the chromosome. With this knowledge, Morgan and his students began the first chromosomal map of the fruit fly Drosophila. In 1928, Frederick Griffith showed that genes could be transferred. In what is now known as Griffith's experiment, injections into a mouse of a deadly strain of bacteria that had been heat-killed transferred genetic information to a safe strain of the same bacteria, killing the mouse.

A series of subsequent discoveries led to the realization decades later that the genetic material is made of DNA (deoxyribonucleic acid). In 1941, George Wells Beadle and Edward Lawrie Tatum showed that mutations in genes caused errors in specific steps in metabolic pathways. This showed that specific genes code for specific proteins, leading to the "one gene, one enzyme" hypothesis.[8] Oswald Avery, Colin Munro MacLeod, and Maclyn McCarty showed in 1944 that DNA holds the gene's information.[9] In 1952, Rosalind Franklin and Raymond Gosling produced a strikingly clear x-ray diffraction pattern indicating a helical form, and in 1953, James D. Watson and Francis Crick demonstrated the molecular structure of DNA. Together, these discoveries established the central dogma of molecular biology, which states that proteins are translated from RNA which is transcribed from DNA. This dogma has since been shown to have exceptions, such as reverse transcription in retroviruses.

In 1972, Walter Fiers and his team at the University of Ghent were the first to determine the sequence of a gene: the gene for Bacteriophage MS2 coat protein.[10] Richard J. Roberts and Phillip Sharp discovered in 1977 that genes can be split into segments. This led to the idea that one gene can make several proteins. The successful sequencing of many organisms' genomes has complicated the molecular definition of genes. In particular, genes do not seem to sit side by side on DNA like discrete beads. Instead, regions of the DNA producing distinct proteins may overlap, so that the idea emerges that "genes are one long continuum".[11][12] It was first hypothesized in 1986 by Walter Gilbert that neither DNA nor protein would be required in such a primitive system as that of a very early stage of the earth if RNA could perform as simply a catalyst and genetic information storage processor.

The modern study of genetics at the level of DNA is known as molecular genetics and the synthesis of molecular genetics with traditional Darwinian evolution is known as the modern evolutionary synthesis.

Early timeline

1865: Gregor Mendel's paper, Experiments on Plant Hybridization
1869: Friedrich Miescher discovers a weak acid in the nuclei of white blood cells that today we call DNA
1880 - 1890: Walther Flemming, Eduard Strasburger, and Edouard Van Beneden elucidate chromosome distribution during cell division
1889: Hugo de Vries postulates that "inheritance of specific traits in organisms comes in particles", naming such particles "(pan)genes"[13]
1903: Walter Sutton and Theodor Boveri hypothesizes that chromosomes, which segregate in a Mendelian fashion, are hereditary units;[14] see the chromosome theory
1905: William Bateson coins the term "genetics" in a letter to Adam Sedgwick[15] and at a meeting in 1906[16]
1908: Hardy–Weinberg law derived.
1910: Thomas Hunt Morgan shows that genes reside on chromosomes
1913: Alfred Sturtevant makes the first genetic map of a chromosome
1913: Gene maps show chromosomes containing linear arranged genes
1918: Ronald Fisher publishes "The Correlation Between Relatives on the Supposition of Mendelian Inheritance" the modern synthesis of genetics and evolutionary biology starts. See population genetics.
1920 Lysenkoism Started, during Lysenkoism they stated that the hereditary factor are not only in the nucleus, but also in the cytoplasm, though they called it living protoplasm.[17]
1928: Frederick Griffith discovers that hereditary material from dead bacteria can be incorporated into live bacteria (see Griffith's experiment)
1931: Crossing over is identified as the cause of recombination; the first cytological demonstration of this crossing over was performed by Barbara McClintock and Harriet Creighton
1933: Jean Brachet is able to show that DNA is found in chromosomes and that RNA is present in the cytoplasm of all cells.
1941: Edward Lawrie Tatum and George Wells Beadle show that genes code for proteins;[18] see the original central dogma of genetics

The DNA era

1944: The Avery–MacLeod–McCarty experiment isolates DNA as the genetic material (at that time called transforming principle)[19]
1947: Salvador Luria discovers reactivation of irradiated phage,[20] stimulating numerous further studies of DNA repair processes in bacteriophage,[21] and other organisms, including humans
1948: Barbara McClintock discovers transposons in maize
1950: Erwin Chargaff shows that the four nucleotides are not present in nucleic acids in stable proportions, but that some general rules appear to hold (e.g., that the amount of adenine, A, tends to be equal to that of thymine, T).
1952: The Hershey–Chase experiment proves the genetic information of phages (and, by implication, all other organisms) to be DNA.[22]
1953: DNA structure is resolved to be a double helix by James Watson and Francis Crick[23]
1956: Joe Hin Tjio, while working in Albert Levan's lab, established the correct chromosome number in humans to be 46[24]
1958: The Meselson–Stahl experiment demonstrates that DNA is semiconservatively replicated.[25]
1960: Jacob and collaborators discover the operon, a group of genes whose expression is coordinated by an operator.[26][27]
1961 - 1967: Combined efforts of scientists "crack" the genetic code, including Marshall Nirenberg, Har Gobind Khorana, Sydney Brenner & Francis Crick.[28]
1964: Howard Temin showed using RNA viruses that the direction of DNA to RNA transcription can be reversed
1964: Lysenkoism Ended
1970: Restriction enzymes were discovered in studies of a bacterium, Haemophilus influenzae, enabling scientists to cut and paste DNA

The genomics era

Further information: genomics
1972: Walter Fiers and his team at the Laboratory of Molecular Biology of the University of Ghent (Ghent, Belgium) were the first to determine the sequence of a gene: the gene for bacteriophage MS2 coat protein.[29]
1976: Walter Fiers and his team determine the complete nucleotide-sequence of bacteriophage MS2-RNA[30]
1977: DNA is sequenced for the first time by Fred Sanger, Walter Gilbert, and Allan Maxam working independently. Sanger's lab sequence the entire genome of bacteriophage Φ-X174.[31]
1983: Kary Banks Mullis invents the polymerase chain reaction enabling the easy amplification of DNA
1989: The human gene that encodes the CFTR protein was sequenced by Francis Collins and Lap-Chee Tsui. Defects in this gene cause cystic fibrosis.[32]
1995: The genome of bacterium Haemophilus influenzae is the first genome of a free living organism to be sequenced[33]
1996: Saccharomyces cerevisiae , a yeast species, is the first eukaryote genome sequence to be released
1998: The first genome sequence for a multicellular eukaryote, Caenorhabditis elegans, is released
2001: First draft sequences of the human genome are released simultaneously by the Human Genome Project and Celera Genomics.
2003 (14 April): Successful completion of Human Genome Project with 99% of the genome sequenced to a 99.99% accuracy

See also

References

  1. ↑ Mayr, The Growth of Biological Thought, pp 635-640
  2. ↑ Bhagwan, Bhagwan; Sharma, R.K. (January 1, 2009). Charaka Samhita. Chowkhamba Sanskrit Series. pp. sharirasthanam II.26–27. ISBN 978-8170800125.
  3. ↑ Zirkle C (1941). "Natural Selection before the "Origin of Species"". Proceedings of the American Philosophical Society 84 (1): 71–123. JSTOR 984852.
  4. ↑ Cosman, Madeleine Pelner; Jones, Linda Gale. Handbook to life in the medieval world. Infobase Publishing. pp. 528–529. ISBN 0-8160-4887-8.
  5. ↑ HaLevi, Judah, translated and annotated by N. Daniel Korobkin. The Kuzari: In Defense of the Despised Faith, p. 38, I:95: "This phenomenon is common in genetics as well—often we find a son who does not resemble his father at all, but closely resembles his grandfather. Undoubtedly, the genetics and resemblance were dormant within the father even though they were not outwardly apparent. Hebrew by Ibn Tibon, p.375: ונראה כזה בענין הטבעי, כי כמה יש מבני האדם שאינו דומה לאב כלל אך הוא דומה לאבי אביו ואין ספק כי הטבע ההוא והדמיון ההוא היה צפון באב ואף על פי שלא נראה להרגשה
  6. ↑ Mayr, The Growth of Biological Thought, pp 640-649
  7. ↑ Mayr, The Growth of Biological Thought, pp 649-651
  8. ↑ Gerstein MB, Bruce C, Rozowsky JS, Zheng D, Du J, Korbel JO et al. (June 2007). "What is a gene, post-ENCODE? History and updated definition". Genome Research 17 (6): 669–681. doi:10.1101/gr.6339607. PMID 17567988.
  9. ↑ Steinman RM, Moberg CL (February 1994). "A triple tribute to the experiment that transformed biology". The Journal of Experimental Medicine 179 (2): 379–84. doi:10.1084/jem.179.2.379. PMC 2191359. PMID 8294854.
  10. ↑ Min Jou W, Haegeman G, Ysebaert M, Fiers W (May 1972). "Nucleotide sequence of the gene coding for the bacteriophage MS2 coat protein". Nature 237 (5350): 82–8. Bibcode:1972Natur.237...82J. doi:10.1038/237082a0. PMID 4555447.
  11. ↑ Pearson H (May 2006). "Genetics: what is a gene?". Nature 441 (7092): 398–401. Bibcode:2006Natur.441..398P. doi:10.1038/441398a. PMID 16724031.
  12. ↑ Pennisi E (June 2007). "Genomics. DNA study forces rethink of what it means to be a gene". Science 316 (5831): 1556–1557. doi:10.1126/science.316.5831.1556. PMID 17569836.
  13. ↑ Vries, H. de (1889) Intracellular Pangenesis ("pan-gene" definition on page 7 and 40 of this 1910 translation in English)
  14. ↑ Ernest W. Crow & James F. Crow (1 January 2002). "100 years ago: Walter Sutton and the chromosome theory of heredity". Genetics 160 (1): 1–4. PMC 1461948. PMID 11805039.
  15. ↑ Online copy of William Bateson's letter to Adam Sedgwick
  16. ↑ Bateson, William (1907). "The Progress of Genetic Research". In Wilks, W. (editor). Report of the Third 1906 International Conference on Genetics: Hybridization (the cross-breeding of genera or species), the cross-breeding of varieties, and general plant breeding. London: Royal Horticultural Society.
    Although the conference was titled "International Conference on Hybridisation and Plant Breeding", Wilks changed the title for publication as a result of Bateson's speech.
  17. ↑ Online summary of "Real Genetic vs. Lysenko Controversy
  18. ↑ Beadle GW, Tatum EL. Genetic Control of Biochemical Reactions in Neurospora. Proc Natl Acad Sci U S A. 1941 Nov 15;27(11):499-506. PMID 16588492
  19. ↑ Oswald T. Avery; Colin M. MacLeod & Maclyn McCarty (1944). "Studies on the chemical nature of the substance inducing transformation of pneumococcal types: Induction of transformation by a desoxyribonucleic acid fraction isolated from pneumococcus type III". Journal of Experimental Medicine 79 (1): 137–58. doi:10.1084/jem.79.2.137. PMC 2135445. PMID 19871359.35th anniversary reprint available
  20. ↑ Luria SE. Reactivation of Irradiated Bacteriophage by Transfer of Self-Reproducing Units. Proc Natl Acad Sci U S A. 1947 Sep;33(9):253-64. PMID 16588748
  21. ↑ Bernstein C. Deoxyribonucleic acid repair in bacteriophage. Microbiol Rev. 1981 Mar;45(1):72-98. Review. PMID 6261109
  22. ↑ HERSHEY AD, CHASE M. Independent functions of viral protein and nucleic acid in growth of bacteriophage. J Gen Physiol. 1952 May;36(1):39-56. PMID 12981234
  23. ↑ Watson JD, Crick FH (Apr 1953). "Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid". Nature 171 (4356): 737–8. Bibcode:1953Natur.171..737W. doi:10.1038/171737a0. PMID 13054692.
  24. ↑ Wright, Pearce (11 December 2001). "Joe Hin Tjio The man who cracked the chromosome count". The Guardian.
  25. ↑ Meselson M, Stahl FW. THE REPLICATION OF DNA IN ESCHERICHIA COLI. Proc Natl Acad Sci U S A. 1958 Jul 15;44(7):671-82. PMID 16590258
  26. ↑ Jacob F1, Perrin D, Sánchez C, Monod J, Edelstein S. [The operon: a group of genes with expression coordinated by an operator. C.R.Acad. Sci. Paris 250 (1960) 1727-1729]. [Article in English, French] C R Biol. 2005 Jun;328(6):514-20. PMID 15999435
  27. ↑ JACOB F, PERRIN D, SANCHEZ C, MONOD J. [Operon: a group of genes with the expression coordinated by an operator]. C R Hebd Seances Acad Sci. 1960 Feb 29;250:1727-9. French. PMID 14406329
  28. ↑ CRICK FH, BARNETT L, BRENNER S, WATTS-TOBIN RJ. General nature of the genetic code for proteins. Nature. 1961 Dec 30;192:1227-32. PMID 13882203
  29. ↑ Min Jou W, Haegeman G, Ysebaert M, Fiers W (May 1972). "Nucleotide sequence of the gene coding for the bacteriophage MS2 coat protein". Nature 237 (5350): 82–8. Bibcode:1972Natur.237...82J. doi:10.1038/237082a0. PMID 4555447.
  30. ↑ Fiers W, Contreras R, Duerinck F, Haegeman G, Iserentant D, Merregaert J, Min Jou W, Molemans F et al. (1976). "Complete nucleotide-sequence of bacteriophage MS2-RNA - primary and secondary structure of replicase gene". Nature 260 (5551): 500–507. Bibcode:1976Natur.260..500F. doi:10.1038/260500a0. PMID 1264203.
  31. ↑ Sanger F, Air GM, Barrell BG, Brown NL, Coulson AR, Fiddes CA, Hutchison CA, Slocombe PM, Smith M et al. (Feb 1977). "Nucleotide sequence of bacteriophage phi X174 DNA". Nature 265 (5596): 687–95. Bibcode:1977Natur.265..687S. doi:10.1038/265687a0. PMID 870828.
  32. ↑ Kerem B; Rommens JM; Buchanan JA; Markiewicz; Cox; Chakravarti; Buchwald; Tsui (September 1989). "Identification of the cystic fibrosis gene: genetic analysis". Science 245 (4922): 1073–80. Bibcode:1989Sci...245.1073K. doi:10.1126/science.2570460. PMID 2570460.
  33. ↑ Fleischmann RD; Adams MD; White O; Clayton; Kirkness; Kerlavage; Bult; Tomb; Dougherty; Merrick; McKenney; Sutton; Fitzhugh; Fields; Gocyne; Scott; Shirley; Liu; Glodek; Kelley; Weidman; Phillips; Spriggs; Hedblom; Cotton; Utterback; Hanna; Nguyen; Saudek et al. (July 1995). "Whole-genome random sequencing and assembly of Haemophilus influenzae Rd". Science 269 (5223): 496–512. Bibcode:1995Sci...269..496F. doi:10.1126/science.7542800. PMID 7542800.

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