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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.

Format: Articles

Subject: Disorders, Reproduction

Cystic Fibrosis

Cystic fibrosis (CF) is a fatal, inherited disease found in humans and characterized by buildup of thick, sticky mucus, particularly in the respiratory and digestive tracts. The abnormally thick mucus prevents the pancreas from functioning normally; it often leads to digestive problems and chronic lung infections. Cystic fibrosis is most prevalent in Caucasian individuals, and approximately 1 in every 29 individuals in the US is a carrier for the mutated CF gene.

Format: Articles

Subject: Disorders

Lap-Chee Tsui (1950-)

Lap-Chee Tsui is a geneticist who discovered the cystic fibrosis (CF) gene, and his research team sequenced human chromosome 7. As the location of the cystic fibrosis gene is now known, it is possible for doctors and specialists to identify in human fetuses the mutation that causes the fatal disease. Tsui's research also outlined the mechanisms for the development of cystic fibrosis, which were previously unknown.

Format: Articles

Subject: People, Reproduction

The Effects of Gene Regulation on Aging in Caenorhabditis elegans (2003)

In 2003, molecular biology and genetics researchers Coleen T. Murphy, Steven A. McCarroll, Cornelia I. Bargmann, Andrew Fraser, Ravi S. Kamath, Julie Ahringer, Hao Li, and Cynthia Kenyon conducted an experiment that investigated the cellular aging in, Caenorhabditis elegans (C. elegans) nematodes. The researchers investigated the interactions between the transcription factor DAF-16 and the genes that regulate the production of an insulin-like growth factor 1 (IGF-1-like) protein related to the development, reproduction, and aging in C. elegans.

Format: Articles

Subject: Experiments

Lysogenic Bacteria as an Experimental Model at the Pasteur Institute (1915-1965)

Lysogenic bacteria, or virus-infected bacteria, were the primary experimental models used by scientists working in the laboratories of the Pasteur Institute in Paris, France, during the 1950s and 1960s. Historians of science have noted that the use of lysogenic bacteria as a model in microbiological research influenced the scientific achievements of the Pasteur Institute's scientists.

Format: Articles

Subject: Organisms, Experiments

Cornelia Isabella Bargmann (1961- )

Cornelia Isabella Bargmann studied the relationship between genes, neural circuits, and behavior in the roundworm Caenorhabditis elegans (C. elegans) during the twentieth and twenty-first centuries in the US. Bargmann’s research focused on how the sense of smell (olfaction) in the nematode word Caenorhabditis elegans. She provided a model to study how neural circuits develop and function in the human brain, as the genetic regulatory pathways are similar.

Format: Articles

Subject: People

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.

Format: Articles

Subject: Legal, Reproduction

Alec Jeffreys’s Experiments to Identify Individuals by Their Beta-globin Genes (1977-1979)

In a series of experiments in the late 1970s, Alec J. Jeffreys in the UK and Richard A. Flavell in the Netherlands developed a technique to detect variations in the DNA of different individuals. They compared fragments of DNA from individuals’ beta-globin genes, which produce a protein in hemoglobin. Previously, to identify biological material, scientists focused on proteins rather than on genes. But evidence about proteins enabled scientists only to exclude, but not to identify, individuals as the sources of the biological samples.

Format: Articles

Subject: Experiments

"Genetic Control of Biochemical Reactions in Neurospora" (1941), by George W. Beadle and Edward L. Tatum

George Wells Beadle and Edward Lawrie Tatum's 1941 article Genetic Control of Biochemical Reactions in Neurospora detailed their experiments on how genes regulated chemical reactions, and how the chemical reactions in turn affected development in the organism. Beadle and Tatum experimented on Neurospora, a type of bread mold, and they concluded that mutations to genes affected the enzymes of organisms, a result that biologists later generalized to proteins, not just enzymes.

Format: Articles

Subject: Experiments

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.

Format: Articles

Subject: Experiments

"A Genomic Regulatory Network for Development" (2002), by Eric H. Davidson, et al.

In 2002 Eric Davidson and his research team published 'A Genomic Regulatory Network for Development' in Science. The authors present the first experimental verification and systemic description of a gene regulatory network. This publication represents the culmination of greater than thirty years of work on gene regulation that began in 1969 with 'A Gene Regulatory Network for Development: A Theory' by Roy Britten and Davidson. The modeling of a large number of interactions in a gene network had not been achieved before.

Format: Articles

Subject: Publications

Dorothy Andersen (1901–1963)

Dorothy Andersen studied cystic fibrosis in the United States during the early 1900s. In 1935, Andersen discovered lesions in the pancreas of an infant during an autopsy, which led her to classify a condition she named cystic fibrosis of the pancreas. In 1938, Andersen became the first to thoroughly describe symptoms of the medical condition cystic fibrosis.

Format: Articles

Subject: People

Roy John Britten (1919-2012)

Roy John Britten studied DNA sequences in the US in the second
half of the twentieth century, and he helped discover repetitive
elements in DNA sequences. Additionally, Britten helped propose
models and concepts of gene regulatory networks. Britten studied the
organization of repetitive elements and, analyzing data from the
Human Genome Project, he found that the repetitive elements in DNA
segments do not code for proteins, enzymes, or cellular parts.
Britten hypothesized that repetitive elements helped cause cells to

Format: Articles

Subject: People

Hox Genes and the Evolution of Vertebrate Axial Morphology Experiment (1995)

In 1995, researchers Ann Burke, Craig Nelson, Bruce Morgan, and Cliff Tabin in the US studied the genes that regulate the construction of vertebra in developing chick and mouse embryos, they showed similar patterns of gene regulation across both species, and they concluded that those patterns were inherited from an ancestor common to all vertebrate animals. The group analyzed the head-to-tail (anterior-posterior) axial development of vertebrates, as the anterior-posterior axis showed variation between species over the course of evolutionary time.

Format: Articles

Subject: Experiments

Digit Regeneration Is Regulated by Msx1 and BMP4 in Fetal Mice (2003), by Manjong Han et al.

In the early 2000s, Manjong Han, Xiaodang Yang, Jennifer Farrington, and Ken Muneoka investigated how genes and proteins in fetal mice (Mus musculus) influenced those fetal mice to regenerate severed toes at Tulane University in New Orleans, Louisiana. The group used hind limbs from mice to show how the gene Msx1 (Homeobox 7) functions in regenerating amputated digits.

Format: Articles

Subject: Experiments

Paretta v. Medical Offices for Human Reproduction [Brief] (2003)

The court decided a child of in vitro fertilization born with cystic fibrosis does not have the right to sue for wrongful life even in the presence of demonstrable acts of medical negligence because to allow such a case would grant the IVF child rights not possessed by naturally born children. The decision in Paretta has not been publicly tested in other jurisdictions.

Format: Articles

Subject: Legal, Reproduction

Walter Jakob Gehring (1939-2014)

Walter Jakob Gehring discovered the homeobox, a DNA segment found in a specific cluster of genes that determine the body plan of animals, plants, and fungi. Gehring identified the homeobox in 1983, with the help of colleagues while isolating the Antennapedia (Antp) gene in fruit flies (Drosophila) at the University of Basel in Basel, Switzerland. Hox genes, a family of genes that have the homeobox, determine the head-to-tail (anterior-posterior) body axis of both vertebrates and invertebrates.

Format: Articles

Subject: People

"Gene Regulation for Higher Cells: A Theory" (1969), by Roy J. Britten and Eric H. Davidson

In 1969, Roy J. Britten and Eric H. Davidson published Gene Regulation for Higher Cells: A Theory, in Science. A Theory proposes a minimal model of gene regulation, in which various types of genes interact to control the differentiation of cells through differential gene expression. Britten worked at the Carnegie Institute of Washington in Washington, D.C., while Davidson worked at the California Institute of Technology in Pasadena, California. Their paper was an early theoretical and mechanistic description of gene regulation in higher organisms.

Format: Articles

Subject: Publications

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.

Format: Articles

Subject: Experiments

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.

Format: Articles

Subject: Theories

Sheldon Clark Reed (1910-2003)

Sheldon Clark Reed helped establish the profession of genetic counseling in the US during the twentieth century. In 1947 Reed coined the term genetic counseling to describe the interaction of a doctor explaining to a patient the likelihood of passing a certain trait to their offspring. With physicians being able to test for genetic abnormalities like cystic fibrosis, Reed helped trained individuals give patients the tools to make informed decisions. In 1955 Reed published the book Counseling in Medical Genetics.

Format: Articles

Subject: People

"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.

Format: Articles

Subject: Experiments

"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.

Format: Articles

Subject: Experiments

George Wells Beadle (1903-1989)

George Wells Beadle studied corn, fruit flies, and funguses in the US during the twentieth century. These studies helped Beadle earn the 1958 Nobel Prize in Physiology or Medicine. Beadle shared the prize with Edward Tatum for their discovery that genes help regulate chemical processes in and between cells. This finding, initially termed the one gene-one enzyme hypothesis, helped scientists develop new techniques to study genes and DNA as molecules, not just as units of heredity between generations of organisms.

Format: Articles

Subject: People

The Effects of Diethylstilbestrol on Embryonic Development

Estrogen plays a key role in the regulation of gene transcription. This is accomplished by its ability to act as a ligand and to bind to specific estrogen receptor (ER) molecules, such as ERα and ERβ, which act as nuclear transcription factors. There are three major nuclear estrogen receptor protein domains: the estrogen binding domain, the protein interaction domain, and the DNA binding domain.

Format: Articles

Subject: Disorders

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