Embryo Project Encyclopedia Articles

Wilhelm Johannsen in Denmark first proposed the distinction between genotype and phenotype in the study of heredity in 1909. This distinction is between the hereditary dispositions of organisms (their genotypes) and the ways in which those dispositions manifest themselves in the physical characteristics of those organisms (their phenotypes). This distinction was an outgrowth of Johannsen's experiments concerning heritable variation in plants, and it influenced his pure line theory of heredity. While the meaning and significance of the genotype-phenotype distinction has been a topic of debate-among Johannsen's contemporaries, later biological theorists, and historians of science-many consider the distinction one of the conceptual pillars of twentieth century genetics. Moreover some have used it to characterize the relationships between studies of development, genetics, and evolution.

Tooth enamel contains relics of its formation process, in the form of microstructures, which indicate the incremental way in which it forms. These microstructures, called cross-striations and striae of Retzius, develop as enamel-forming cells called ameloblasts, whcih cyclically deposit enamel on developing teeth in accordance with two different biological clocks. Cross-striations result from a twenty-four hour cycle, called a Circadian rhythm, in the enamel deposition process, while striae of Retzius have a longer periodicity. Unlike other tissues, enamel does not remodel after it forms, leaving those microstructures intact after deposition. Cross-striations and striae of Retzius thus provide evidence of the timing and processes of tooth development, and they indicate how organisms in a lineage differently grow and develop across generations. Researchers have examined those microstructures to investigate human evolution.

In 1868 in England, Charles Darwin proposed his pangenesis theory to describe the units of inheritance between parents and offspring and the processes by which those units control development in offspring. Darwin coined the concept of gemmules, which he said referred to hypothesized minute particles of inheritance thrown off by all cells of the body. The theory suggested that an organism's environment could modify the gemmules in any parts of the body, and that these modified gemmules would congregate in the reproductive organs of parents to be passed on to their offspring. Darwin's theory of pangenesis gradually lost popularity in the 1890s when biologists increasingly abandoned the theory of inheritance of acquired characteristics (IAC), on which the pangenesis theory partially relied. Around the turn of the twentieth century, biologists replaced the theory of pangenesis with germ plasm theory and then with chromosomal theories of inheritance, and they replaced the concept of gemmules with that of genes.

The principal work of St. Thomas Aquinas, the Summa Theologica is divided into three parts and is designed to instruct both beginners and experts in all matters of Christian Truth. It discusses topics central to Christian morality, ethics, law, and the life of Christ, providing philosophical and theological solutions to common arguments and questions surrounding the Christian faith. The views presented in this body of writing are currently upheld in large part by the modern doctrines of the Roman Catholic Church. Interesting references to and insights on ensoulment and embryology, as well as other topics discussed in Summa Theologica, indicate a strong Aristotelian and Augustinian influence.

Among his myriad scientific and artistic contributions, Leonardo da Vinci's work in embryology was groundbreaking. He observed and diagramed the previously undemonstrated position of the fetus in the womb with detailed accompanying annotations of his observations. Leonardo was highly paranoid of plagiarism and wrote all of his notes in mirror-like handwriting laden with his own codes, making his writing difficult to discern and delaying its impact. Although he carried out his studies in embryology from 1510-1512, it was not until the 1900s that his work was popularized among the scientific community. Leonardo's embryological annotations found in the third volume of his private notebooks represent his notable contributions to and explanations of human development and embryology.

In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice, nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of eighteen months. After extensively studying the abnormal characteristics of the infant, Niemann came to the conclusion that the disease was a variant of Gaucher's disease. Gaucher's disease, described by the French dermatologist Philippe Gaucher in 1882, is a lipid storage disorder resulting in an excessive accumulation of lipids in the spleen, kidneys, liver, lungs, bone marrow, and brain. Niemann was able to connect the infant's disease to Gaucher's disease because it displayed similar symptoms: a noticeable accumulation of fatty substances in the brain, liver, and spleen.

Historically the exact age of human embryo specimens has long perplexed embryologists. With the menstrual history of the mother often unknown or not exact, and the premenstrual and postmenstrual phases varying considerably among women, age sometimes came down to a best guess based on the weight and size of the embryo. Wilhelm His was one of the first to write comparative descriptions of human embryos in the late 1800s. Soon afterward, Franklin P. Mall, the first director of the Carnegie Institution of Washington's (CIW) Department of Embryology, expanded upon His' work. Mall's first efforts were to place embryos into stages based on menstrual ages and body length. This method ran into problems however when it became apparent that obtaining menstrual ages was often impossible or simply too inaccurate even if the information could be obtained from the women who carried the embryos. Mall decided instead to look for patterns among embryos to come up with some type of staging system whereby embryo age could be more accurately determined.

Calvin Blackman Bridges studied chromosomes and heredity in the US throughout the early twentieth century. Bridges performed research with Thomas Hunt Morgan at Columbia University in New York City, New York, and at the California Institute of Technology in Pasadena, California. Bridges and Morgan studied heredity in Drosophila, the common fruit fly. Throughout the early twentieth century, researchers were gathering evidence that genes, or what Gregor Mendel had called the factors that control heredity, are located on chromosomes. At Columbia, Morgan disputed the theory, but in 1916, Calvin Bridges published evidence that, according to Morgan, did much to convince skeptics of that theory. Bridges also established that specific chromosomes function in determining sex in Drosophila.

Alfred Henry Sturtevant studied heredity in fruit flies in the US throughout the twentieth century. From 1910 to 1928, Sturtevant worked in Thomas Hunt Morgan’s research lab in New York City, New York. Sturtevant, Morgan, and other researchers established that chromosomes play a role in the inheritance of traits. In 1913, as an undergraduate, Sturtevant created one of the earliest genetic maps of a fruit fly chromosome, which showed the relative positions of genes along the chromosome. At the California Institute of Technology in Pasadena, California, he later created one of the first fate maps, which tracks embryonic cells throughout their development into an adult organism. Sturtevant’s contributions helped scientists explain genetic and cellular processes that affect early organismal development.

From 1913 to 1916, Calvin Bridges performed experiments that indicated genes are found on chromosomes. His experiments were a part of his doctoral thesis advised by Thomas Hunt Morgan in New York, New York. In his experiments, Bridges studied Drosophila, the common fruit fly, and by doing so showed that a process called nondisjunction caused chromosomes, under some circumstances, to fail to separate when forming sperm and egg cells. Nondisjunction, as described by Bridges, caused sperm or egg cells to contain abnormal amounts of chromosomes. In some cases, that caused the offspring produced by the sperm or eggs to display traits that they would typically not have. His research on nondisjunction provided evidence that chromosomes carry genetic traits, including those that determine the sex of an organism.