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Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene
The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was identified in 1989 by geneticist Lap-Chee Tsui and his research team as the gene associated with cystic fibrosis (CF). Tsui's research pinpointed the gene, some mutations to which cause CF, and it revealed the underlying disease mechanism. The CFTR gene encodes a protein in the cell membrane in epithelial tissues and affects multiple organ systems in the human body. Mutations in the CFTR gene cause dysfunctional regulation of cell electrolytes and water content.
Subject: Disorders, Reproduction
Organisers and Genes (1940), by Conrad Hal Waddington
Conrad Hal Waddington's Organisers and Genes, published in 1940, is a summary of available research and theoretical framework for many concepts related to tissue differentiation in the developing embryo. The book is composed of two main conceptual sections. The first section explores the action and nature of the organizer, while the second section delves into genes and their influence on development.
"Male Development of Chromosomally Female Mice Transgenic for Sry gene" (1991), by Peter Koopman, et al.
Early 1990s research conducted by Peter Koopman, John Gubbay, Nigel Vivian, Peter Goodfellow, and Robin Lovell-Badge, showed that chromosomally female (XX) mice embryos can develop as male with the addition of a genetic fragment from the Y chromosome of male mice. The genetic fragment contained a segment of the mouse Sry gene, which is analogous to the human SRY gene. The researchers sought to identify Sry gene as the gene that produced the testis determining factor protein (Tdf protein in mice or TDF protein in humans), which initiates the formation of testis.
Sex-determining Region Y in Mammals
The Sex-determining Region Y (Sry in mammals but SRY in humans) is a gene found on Y chromosomes that leads to the development of male phenotypes, such as testes. The Sry gene, located on the short branch of the Y chromosome, initiates male embryonic development in the XY sex determination system. The Sry gene follows the central dogma of molecular biology; the DNA encoding the gene is transcribed into messenger RNA, which then produces a single Sry protein.
"Genetic Evidence Equating SRY and the Testis-Determining Factor" (1990), by Phillippe Berta et al.
In the late 1980s, Peter Goodfellow in London, UK led a team of researchers who showed that the SRY gene in humans codes a protein that causes testes to develop in embryos. During this time, scientists in London and Paris, including Peter Koompan and John Gubbay, proposed that SRY was the gene on the Y chromosome responsible for encoding the testis-determining factor (TDF) protein. The TDF is a protein that initiates embryo to develop male characteristics.
The Hedgehog Signaling Pathway in Vertebrates
The hedgehog signaling pathway is a mechanism that regulates cell growth and differentiation during embryonic development, called embryogenesis, in animals. The hedgehog signaling pathway works both between cells and within individual cells.
The Genetic Control and Cytoplasmic Expression of 'Inducibility' in the synthesis of B-galactosidase" (1959), by Arthur B. Pardee, Francois Jacob, and Jacques Monod
Between 1957 and 1959, Arthur Pardee, Francois Jacob, and Jacques Monod conducted a set of experiments at the Pasteur Institute in Paris, France, that was later called the PaJaMa Experiments, a moniker derived from the researchers' last names. In these experiments, they described how genes of a species of single-celled bacteria, called Escherichia coli (E. coli), controlled the processes by which enzymes were produced in those bacteria.
Barbara McClintock's Transposon Experiments in Maize (1931–1951)
Barbara McClintock conducted experiments on corn (Zea mays) in the United States in the mid-twentieth century to study the structure and function of the chromosomes in the cells. McClintock researched how genes combined in corn and proposed mechanisms for how those interactions are regulated. McClintock received the Nobel Prize in Physiology or Medicine in 1983, the first woman to win the prize without sharing it. McClintock won the award for her introduction of the concept of transposons, also called jumping genes.
Shoukhrat Mitalipov and Masahito Tachibana's Mitochondrial Gene Replacement Therapy Technique
In 2009, Shoukhrat Mitalipov, Masahito Tachibana, and their team of researchers developed the technology of mitochondrial gene replacement therapy to prevent the transmission of a mitochondrial disease from mother to offspring in primates. Mitochondria contain some of the body's genetic material, called mitochondrial DNA. Occasionally, the mitochondrial DNA possesses mutations.
Beadle and Tatum's 1941 Experiments with Neurospora Revealed that Genes Produce Enzymes
This illustration shows George Beadle and Edward Tatum's experiments with Neurospora crassa that indicated that single genes produce single enzymes. The pair conducted the experiments at Stanford University in Palo Alto, California. Enzymes are types of proteins that can catalyze reactions inside cells, reactions that produce a number of things, including nutrients that the cell needs. Neurospora crassa is a species of mold that grows on bread.
Subject: Theories, Experiments
The Role of the Notch signaling pathway in Somitogenesis
Among other functions, the Notch signaling pathway contributes to the development of somites in animals. It involves a cell signaling mechanism with a wide range of functions, including cellular differentiation, and the formation of the embryonic structures (embryogenesis). All multicellular animals use Notch signaling, which is involved in the development, maintenance, and regeneration of a range of tissues. The Notch signaling pathways spans two cells, and consists of receptor proteins, which cross one cell's membrane and interacts with proteins on adjacent cells, called ligands.
Golden Rice was engineered from normal rice by Ingo Potrykus and Peter Beyer in the 1990s to help improve human health. Golden Rice has an engineered multi-gene biochemical pathway in its genome. This pathway produces beta-carotene, a molecule that becomes vitamin A when metabolized by humans. Ingo Potrykus worked at the Swiss Federal Institute of Technology in Zurich, Switzerland, and Peter Beyer worked at University of Freiburg, in Freiburg, Germany. The US Rockefeller Foundation supported their collaboration.
A Series of YouTube Videos Detailing the “CRISPR Babies” Experiment (2018), by He Jiankui
In 2018, He Jiankui uploaded a series of videos to a YouTube channel titled “The He Lab” that detailed one of the first instances of a successful human birth after genome editing had been performed on an embryo using CRISPR-cas9. CRISPR-cas9 is a genome editing tool derived from bacteria that can be used to cut out and replace specific sequences of DNA. He genetically modified embryos at his lab in Shenzhen, China, to make them immune to contracting HIV through indirect perinatal transmission from their father, who was infected with the virus.
Subject: Publications, Experiments, Ethics
The e-Mouse Atlas Project (1992- )
The Edinburgh Mouse Atlas, also called the e-Mouse Atlas Project (EMAP), is an online resource comprised of the e-Mouse Atlas (EMA), a detailed digital model of mouse development, and the e-Mouse Atlas of Gene Expression (EMAGE), a database that identifies sites of gene expression in mouse embryos. Duncan Davidson and Richard Baldock founded the project in 1992, and the Medical Research Council (MRC) in Edinburgh, United Kingdom, funds the project.
"A molecular wound response program associated with regeneration initiation in planarians" (2012), by Danielle Wenemoser et al.
In 2012, a team of scientists across the US conducted an experiment to find the mechanism that allowed a group of flatworms, planarians, to regenerate any body part. The group included Danielle Wenemoser, Sylvain Lapan, Alex Wilkinson, George Bell, and Peter Reddien. They aimed to identify genes that are expressed by planarians in response to wounds that initiated a regenerative mechanism. The researchers determined several genes as important for tissue regeneration.
“Explaining Recent Declines in Adolescent Pregnancy in the United States: The Contribution of Abstinence and Improved Contraceptive Use” (2007), by John S. Santelli, Laura Duberstein Lindberg, Lawrence B. Finer, and Susheela Singh
In “Explaining Recent Declines in Adolescent Pregnancy in the United States: The Contribution of Abstinence and Improved Contraceptive Use,” hereafter “Explaining Recent Declines,” researchers John S. Santelli, Laura Duberstein Lindberg, Lawrence B. Finer, and Susheela Singh discuss what led to the major decline in US adolescent pregnancy rates from 1995 to 2002. Working with the Guttmacher Institute, a reproductive health research organization, they found that the decline in US adolescent pregnancy rates between 1995 and 2002 was primarily due to improved contraceptive use.
Subject: Publications, Reproduction
China's First Baby Conceived through In Vitro Fertilization-Embryonic Transfer, by Zhang Lizhu's Research Team
On 10 March 1988, China's first baby conceived through human in vitro fertilization (IVF) and embryo transfer (ET), commonly referred to as a test-tube baby, was born at the Peking Hospital (PUTH) in Beijing. This birth was reported in numerous media reports as a huge step forward in China's long march to keep pace with global advances in science and technology. Led by gynecologist Zhang Lizhu, the PUTH research team had devoted more than four years to the human IVF-ET project.
Subject: Experiments, Reproduction
"CRISPR /Cas9-mediated Gene Editing in Human Tripronuclear Zygotes" (2015), by Junjiu Huang et al.
In 2015, Junjiu Huang and his colleagues reported their attempt to enable CRISPR/cas 9-mediated gene editing in nonviable human zygotes for the first time at Sun Yat-Sen University in Guangzhou, China. Their article, CRISPR /Cas9-mediated Gene Editing in Human Tripronuclear Zygotes, was published in Protein and Cell. Nonviable zygotes are sperm-fertilized eggs that cannot develop into a fetus. Researchers previously developed the CRISPR/cas 9 gene editing tool, which is a system that originated from bacteria as a defense mechanism against viruses.
Subject: Publications, Experiments
Sonja Vernes, et al.'s Experiments On the Gene Networks Affected by the Foxp2 Protein (2011)
In 2011, Sonja Vernes and Simon Fisher performed a series of experiments to determine which developmental processes are controlled by the mouse protein Foxp2. Previous research showed that altering the Foxp2 protein changed how neurons grew, so Vernes and Fisher hypothesized that Foxp2 would affect gene networks that involved in the development of neurons, or nerve cells. Their results confirmed that Foxp2 affected the development of gene networks involved in the growth of neurons, as well as networks that are involved in cell specialization and cell communication.
Shoukhrat Mitalipov and Masahito Tachibana’s Mitochondrial Gene Replacement in Primate Offspring and Embryonic Stem Cells (2009)
Shoukhrat Mitalipov, Masahito Tachibana, and their team of researchers replaced the mitochondrial genes of primate embryonic stem cells via spindle transfer. Spindle replacement, also called spindle transfer, is the process of removing the genetic material found in the nucleus of one egg cell, or oocyte, and placing it in another egg that had its nucleus removed. Mitochondria are organelles found in all cells and contain some of the cell’s genetic material. Mutations in the mitochondrial DNA can lead to neurodegenerative and muscle diseases.
The Role of the Notch Signaling Pathway in Myogenesis
Among other functions, the Notch signaling pathway forestalls the process of myogenesis in animals. The Notch signaling pathway is a pathway in animals by which two adjacent cells within an organism use a protein named Notch to mechanically interact with each other. Myogenesis is the formation of muscle that occurs throughout an animal's development, from embryo to the end of life. The cellular precursors of skeletal muscle originate in somites that form along the dorsal side of the organism.
Mechanism of Notch Signaling
Mechanism of Notch Signaling: The image depicts a type of cell signaling, in which two animal cells interact and transmit a molecular signal from one to the other. The process results in the production of proteins, which influence the cells as they differentiate, move, and contribute to embryological development. In the membrane of the signaling cell, there is a ligand (represented by a green oval). The ligand functions to activate a change in a receptor molecule. In the receiving cell, there are receptors; in this case, Notch proteins (represented by orange forks).
Simon Edward Fisher (1970-)
Simon Edward Fisher studied the genes that control speech and language in England and the Netherlands in the late twentieth and early twenty-first centuries. In 2001, Fisher co-discovered the FOXP2 gene with Cecilia Lai, a gene related to language acquisition in humans and vocalization in other mammals. When damaged, the human version of the gene leads to language disorders that disrupt language and speech skills. Fisher's discovery validated the hypothesis that genes influence language, resulting in further investigations of language disorders and their heritability.
Nancy Goodman Brinker (1946– )
Nancy Goodman Brinker founded the largest breast cancer organization in the US, Susan G. Komen for the Cure, during the twentieth century. In 1982, Brinker created the organization, Susan G. Komen for the Cure, in memory of her sister, who had died of breast cancer two years earlier. During the early twentieth century, breast cancer was socially stigmatized, very few people discussed the disease, and there were limited treatment options available for those diagnosed with the disease.
Multiplex Automated Genome Engineering (MAGE)
Multiplex Automated Genome Engineering, or MAGE, is a genome editing technique that enables scientists to quickly edit an organism’s DNA to produce multiple changes across the genome. In 2009, two genetic researchers at the Wyss Institute at Harvard Medical School in Boston, Massachusetts, Harris Wang and George Church, developed the technology during a time when researchers could only edit one site in an organism’s genome at a time.
Subject: Technologies, Processes