Embryo Project Encyclopedia

Published in 2002, prostate cancer researcher John R. Masters authored a review article HeLa Cells 50 Years On: The Good, The Bad, and The Ugly that described the historical and contemporary context of the HeLa cell line in research in Nature Reviews Cancer. The HeLa cell line was one of the first documented immortal cell lines, isolated from cervical cancer patient Henrietta Lacks in 1951 at The Johns Hopkins Hospital in Baltimore, Maryland. An immortal cell line is a cluster of cells that continuously multiply on their own outside of the original host. Though the HeLa cell line has contributed to many biomedical research advancements such as the polio vaccine, its usage in research has been controversial for many reasons, including that Lacks was a Black woman who did not knowingly donate her cells to science. In the article “HeLa Cells 50 Years On: The Good, The Bad, and The Ugly,” Masters describes that, despite the benefits of the HeLa cell line, it has caused significant negative impacts on research due to its propensity to contaminate other cell lines, which can potentially invalidate research findings.

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. Gehring also identified the homeobox-containing Pax-6 gene as the master control gene in eye development of Drosophila, the same gene that, when mutated or absent in humans, leads to aniridia, or lack of the iris, in humans. Gehring's work with the homeobox suggested to biologists that widely different species share a similar and evolutionarily conserved genetic pathway that controls the development of overall body plans, from fruit flies to humans.

Friedrich Leopold August Weismann published Das
Keimplasma: eine Theorie der Vererbung (The Germ-Plasm: a
Theory of Heredity, hereafter The Germ-Plasm) while
working at the University of Freiburg in Freiburg, Germany in 1892.
William N. Parker, a professor in the University College of South
Wales and Monmouthshire in Cardiff, UK, translated The
Germ-Plasm into English in 1893. In The Germ-Plasm,
Weismann proposed a theory of heredity based on the concept of the
germ plasm, a substance in the germ cell that carries hereditary information. The
Germ-Plasm compiled Weismann's theoretical work and analyses of
other biologists' experimental work in the 1880s, and it provided a
framework to study development, evolution and heredity. Weismann
anticipated that the germ-plasm theory would enable researchers to
investigate the functions and material of hereditary substances.

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". His discovery indicated the causes of mutation and for that research he later received the Nobel Prize in Physiology or Medicine in 1946. Muller's experiments with x-rays established that x-rays mutated genes and that egg and sperm cells are especially susceptible to such genetic mutations.

Curt Jacob Stern studied radiation and chromosomes in humans and fruit flies in the United States during the twentieth century. He researched the mechanisms of inheritance and of mitosis, or the process in which the chromosomes in the nucleus of a single cell, called the parent cell, split into identical sets and yield two cells, called daughter cells. Stern worked on the Drosophila melanogaster fruit fly, and he provided early evidence that chromosomes exchange genetic material during cellular reproduction. During World War II, he provided evidence for the harmful effects of radiation on developing organisms. That research showed that mutations can cause problems in developing fetuses and can lead to cancer. He helped explain how genetic material transmits from parent to progeny, and how it functions in developing organisms.

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.

Theophilus Shickel Painter studied the structure and
function of chromosomes in the US during in the early to mid-twentieth century. Painter worked at
the University of Texas at Austin in Austin, Texas. In the 1920s
and 1930s, Painter studied the chromosomes of the salivary gland
giant chromosomes of the fruit fly (Drosophila
melanogaster), with Hermann J. Muller. Muller and Painter
studied the ability of X-rays to cause changes in the chromosomes
of fruit flies. Painter also studied chromosomes in mammals.
He investigated the development of the male gamete, a process
called spermatogenesis, in several invertebrates and vertebrates,
including mammals. In addition, Painter studied the role the
Y-chromosome plays in the determination and development of the male
embryo. Painter's research concluded that egg cells fertilized by
sperm cell bearing an X-chromosome resulted in a female embryo,
whereas egg cells fertilized by a sperm cell carrying a
Y-chromosome resulted in a male embryo. Painter's work with
chromosomes helped other researchers determine that X- and
Y-chromosomes are responsible for sex determination.

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. Reed educated patients about how certain genetically transmitted traits could adversely affect their offspring and provided options for remedying those effects.

Apoptosis, or programmed cell death, is a mechanism in embryonic development that occurs naturally in organisms. Apoptosis is a different process from cell necrosis, which is uncontrolled cell death usually after infection or specific trauma. As cells rapidly proliferate during development, some of them undergo apoptosis, which is necessary for many stages in development, including neural development, reduction in egg cells (oocytes) at birth, as well as the shaping of fingers and vestigial organs in humans and other animals. Sydney Brenner, H. Robert Horvitz, and John E. Sulston received the Nobel Prize in Physiology or Medicine in 2002 for their work on the genetic regulation of organ development and programmed cell death. Research on cell lineages before and after embryonic development may lead to new ways to reduce or promote cell death, which can be important in preventing diseases such as Alzheimer's or cancer.

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. HIV is a virus that attacks the immune cells of its host and weakens their ability to fight off diseases. At the time of He’s experiment, various treatments already existed at that could prevent the fetuses from contracting HIV without the need for gene surgery. Nonetheless, He’s experiment led to one of the first successful births of fetuses resulting from genetically modified embryos. He kept his experiment secret until he uploaded the videos announcing the birth of the fetuses, born as two twin girls. The experiment discussed in the videos was successful, but many scientists criticized the experiment due to ethical concerns with the way He conducted it.