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Angelman syndrome is a disorder in humans that causes neurological symptoms such as lack of speech, jerky movements, and insomnia. A human cell has two copies of twenty-three chromosomes for a total of forty-six-one copy from its mother and one from its father. But in the case of Angelman syndrome, the maternal chromosome numbered 15 has a mutation or deletion in its DNA and a gene on the paternal chromosome 15 is inactivated in some parts the brain. The result is the paternal gene is silenced during development of the sperm, which is called genetic imprinting.
Beadle and Ephrussi's Transplantation Technique for Drosophila
Boris Ephrussi and George Wells Beadle developed a transplantation technique on flies, Drosophila melanogaster, which they described in their 1936 article A Technique of Transplantation for Drosophila. The technique of injecting a tissue from one fly larva into another fly larva, using a micropipette, to grow that tissue in the second larvae, was a means for investigating development of Drosophila. Through this technique, Beadle and Ephrussi studied the role of genes in embryological processes.
"Development, Plasticity and Evolution of Butterfly Eyespot Patterns" (1996), by Paul M. Brakefield et al.
Paul M. Brakefield and his research team in Leiden, the Netherlands, examined the development, plasticity, and evolution of butterfly eyespot patterns, and published their findings in Nature in 1996. Eyespots are eye-shaped color patterns that appear on the wings of some butterflies and birds as well as on the skin of some fish and reptiles. In butterflies, such as the peacock butterfly Aglais, the eyespots resemble the eyes of birds and help butterflies deter potential predators.
The Carapacial Ridge of Turtles
Two main elements characterize the skeletal morphology of turtles: the carapace and the plastron. For a turtle, the carapacial ridge begins in the embryo as a bulge posterior to the limbs but on both sides of the body. Such outgrowths are the first indication of shell development in turtle embryos. While the exact mechanisms underpinning the formation of the carapacial ridge are still not entirely known, some biologists argue that understanding these embryonic mechanisms is pivotal to explaining both the development of turtles and their evolutionary history.
The Source-Sink Model
The source-sink model, first proposed by biologist Francis Crick in 1970, is a theoretical system for how morphogens distribute themselves across small fields of early embryonic cells. A morphogen is a substance that determines the fate and phenotype of a group of cells through a concentration gradient of itself across that group. Crick’s theory has been experimentally confirmed with several morphogens, most notably with the protein bicoid , the first discovered morphogen. The model provides a theoretical structure for the understanding of some features of early embryonic development.
Seed Banking 1979-1994
In the early twentieth century, scientists and agriculturalists collected plants in greenhouses, botanical gardens, and fields. Seed collection efforts in the twentieth century coincided with the professionalization of plant breeding. When scientists became concerned over the loss of plant genetic diversity due to the expansion of a few agricultural crops around mid-century, countries and organizations created seed banks for long-term seed storage.
Conrad Hal Waddington (1905-1975)
Conrad Hal Waddington was an embryologist and theoretical biologist. His early experimental work investigated aspects of embryonic induction and the properties of the organizer first identified by Hans Spemann and Hilde Mangold, while his later studies focused on genetic assimilation. Waddington is probably best known for developing the concept of the epigenetic landscape, and he also held significant interest in many different areas ranging from the visual arts and poetry to philosophy.
The Human Genome Project (1990-2003)
The Human Genome Project (HGP) was an international scientific effort to sequence the entire human genome, that is, to produce a map of the base pairs of DNA in the human chromosomes, most of which do not vary among individuals. The HGP started in the US in 1990 as a public effort and included scientists and laboratories located in France, Germany, Japan, China, and the United Kingdom.
Hermann Joseph Muller's Study of X-rays as a Mutagen, (1926-1927)
Hermann Joseph Muller conducted three experiments in 1926 and 1927 that demonstrated that exposure to x-rays, a form of high-energy radiation, can cause genetic mutations, changes to an organism's genome, particularly in egg and sperm cells. In his experiments, Muller exposed fruit flies (Drosophila) to x-rays, mated the flies, and observed the number of mutations in the offspring. In 1927, Muller described the results of his experiments in "Artificial Transmutation of the Gene" and "The Problem of Genic Modification".
Molecular Epigenetics and Development: Histone Conformations, DNA Methylation and Genomic Imprinting
Introduced by Conrad Hal Waddington in 1942, the concept of epigenetics gave scientists a new paradigm of thought concerning embryonic development, and since then has been widely applied, for instance to inheritable diseases, molecular technologies, and indeed the human genome as a whole. A genome contains an embedded intricate coding template that provides a means of genetic expression from the initial steps of embryonic development until the death of the organism. Within the genome there are two prominent components: coding (exons) and non-coding (introns) sequences.
“An Extended Family with a Dominantly Inherited Speech Disorder” (1990), by Jane A. Hurst et al.
In 1990, researcher Jane Hurst and her colleagues published “An Extended Family With a Dominantly Inherited Speech Disorder,” in which they proposed that a single gene was responsible for a language disorder across three generations of a family. Affected individuals of the family, called the KE family, had difficulty producing, expressing and comprehending speech. Hurst and her team studied the KE family and the disorder at the Department of Clinical Genetics at the Great Ormond Street Hospital for Children in London, England.
Subject: Publications, Disorders
Gattaca is a 1997 science fiction film produced in the US that depicts a future society that uses reproductive technology and genetic engineering in order to produce genetically enhanced human beings. By selectively choosing certain genes, scientists and physicians ensure that individuals born using reproductive technologies have desirable physical and psychological traits and prevent undesirable traits.
The Pasteur Institute (1887- )
L'Institut Pasteur (The Pasteur Institute) is a non-profit private research institution founded by Louis Pasteur on 4 June 1887 in Paris, France. The Institute's research focuses on the study of infectious diseases, micro-organisms, viruses, and vaccines. As of 2014, ten scientists have received Nobel Prizes in physiology or medicine for the research they have done at the Pasteur Institute.
The Notch Signaling Pathway in Embryogenesis
The Notch signaling pathway is a mechanism in animals by which adjacent cells communicate with each other, conveying spatial information and genetic instructions for the animal's development. All multicellular animals utilize Notch signaling, which contributes to the formation, growth, and development of embryos (embryogenesis). Notch signaling also contributes to the differentiation of embryonic cells into various types of cells into various types of cells, such as neurons.
Allan Charles Wilson (1934-1991)
Allan C. Wilson studied genes, proteins, and body structures of animals and humans in the US during the second half of the twentieth century. Wilson also studied human evolution. Although morphology and behaviors of humans (Homo sapiens) and great apes differ, Wilson found that they have biochemical and genetic similarities. Wilson and his colleagues calculated the time period of humans' and African apes' common ancestor.
"RNA-Guided Human Genome Engineering via Cas 9" (2013), by Prashant Mali, Luhan Yang, Kevin M. Esvelt, John Aach, Marc Guell, James E. DiCarlo, Julie E. Norville, and George M. Church
In 2013, George Church and his colleagues at Harvard University in Cambridge, Massachusetts published RNA-Guided Human Genome Engineering via Cas 9, in which they detailed their use of RNA-guided Cas 9 to genetically modify genes in human cells. Researchers use RNA-guided Cas 9 technology to modify the genetic information of organisms, DNA, by targeting specific sequences of DNA and subsequently replacing those targeted sequences with different DNA sequences. Church and his team used RNA-guided Cas 9 technology to edit the genetic information in human cells.
“Sex Limited Inheritance in Drosophila” (1910), by Thomas Hunt Morgan
In 1910, Thomas Hunt Morgan performed an experiment at Columbia University, in New York City, New York, that helped identify the role chromosomes play in heredity. That year, Morgan was breeding Drosophila, or fruit flies. After observing thousands of fruit fly offspring with red eyes, he obtained one that had white eyes. Morgan began breeding the white-eyed mutant fly and found that in one generation of flies, the trait was only present in males.
Subject: Experiments, Publications
Doolan v. IVF America [Brief] (2000)
The implication of the court's decision was that Thomas Doolan's identity or personhood existed at the embryo stage in vitro, thus the fact that he was born with cystic fibrosis was not attributable to the decision of the in vitro fertilization providers to implant one embryo instead of another. The other unused embryo may not have carried the cystic fibrosis genes, but that other embryo was not Thomas Doolan. The decision in Doolan has not been publicly tested in other jurisdictions.
Subject: Legal, Reproduction
Edward B. Lewis (1918-2004)
Edward B. Lewis studied embryonic development in Drosophila, including the discovery of the cis-trans test for recessive genes, and the identification of the bithorax complex and its role in development in Drosophila. He shared the 1995 Nobel Prize in Physiology or Medicine with Christiane Nüsslein-Volhard and Eric F. Wieschaus for work on genetic control of early embryonic development.
Andrew Zachary Fire (1959- )
Andrew Zachary Fire is a professor at Stanford University and Nobel Laureate. Fire worked at the Carnegie Institution of Washington's Department of Embryology in Baltimore, Maryland, with colleague Craig Mello, where they discovered that RNA molecules could be used to turn off or knock out the expression of genes. Fire and Mello called the process RNA interference (RNAi), and won the Nobel Prize in Physiology or Medicine in 2006 for their discovery.
Rosalind Elsie Franklin (1920-1958)
Rosalind Elsie Franklin worked with X-ray crystallography at King's College London, UK, and she helped determine the helical structure of DNA in the early 1950s. Franklin's research helped establish molecular genetics, a field that investigates how heredity works on the molecular level. The discovery of the structure of DNA also made future research possible into the molecular basis of embryonic development, genetic disorders, and gene manipulation.
Oswald Theodore Avery (1877-1955)
Oswald Theodore Avery studied strains of pneumococcus of the genus Streptococcus in the US in the first half of the twentieth century. This bacterium causes pneumonia, a common cause of death at the turn of the twentieth century. In a 1944 paper, Avery demonstrated with colleagues Colin Munro MacLeod and Maclyn McCarty that deoxyribonucleic acid, or DNA, instead of protein, formed the material of heritable transformation in bacteria. Avery helped untangle some of the relationships between genes and developmental processes.
Jennifer Doudna and Emmanuelle Charpentier’s Experiment About the CRISPR/cas 9 System’s Role in Adaptive Bacterial Immunity (2012)
In 2012, Jennifer Doudna, Emmanuelle Charpentier from the University of California, Berkeley, in Berkeley, California, and Umeå University in Umeå, Sweden, along with their colleagues discovered how bacteria use the CRISPR/cas 9 system to protect themselves from viruses. The researchers also proposed the idea of using the CRISPR/cas 9 system as a genome editing tool.
George McDonald Church (1954- )
George McDonald Church studied DNA from living and from extinct species in the US during the twentieth and twenty-first centuries. Church helped to develop and refine techniques with which to describe the complete sequence of all the DNA nucleotides in an organism's genome, techniques such as multiplex sequencing, polony sequencing, and nanopore sequencing. Church also contributed to the Human Genome Project, and in 2005 he helped start a company, the Personal Genome Project. Church proposed to use DNA from extinct species to clone and breed new organisms from those species.
Subject: People, Technologies
Bacteria of the genus Wolbachia are
bacteria that live within the cells of their hosts. They infect a
wide range of arthropods (insects, arachnids, and crustaceans) and
some nematodes (parasitic roundworms). Scientists estimate that
Wolbachia exist in between seventeen percent and seventy-six percent of
arthropods and nematodes. The frequency of the bacteria makes them
one of the most widespread parasites. In general, they are divided
into five groups, from A to E, depending of the species of their