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.

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.

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.

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. Through more breeding analysis, Morgan found that the genetic factor controlling eye color in the flies was on the same chromosome that determined sex. That result indicated that eye color and sex were both tied to chromosomes and helped Morgan and colleagues establish that chromosomes carry the genes that allow offspring to inherit traits from their parents.

In 1913, Alfred Henry Sturtevant published the results of experiments in which he showed how genes are arranged along a chromosome. Sturtevant performed those experiments as an undergraduate at Columbia University, in New York, New York, under the guidance of Nobel laureate Thomas Hunt Morgan. Sturtevant studied heredity using Drosophila, the common fruit fly. In his experiments, Sturtevant determined the relative positions of six genetic factors on a fly’s chromosome by creating a process called gene mapping. Sturtevant’s work on gene mapping inspired later mapping techniques in the twentieth and twenty-first centuries, techniques that helped scientists identify regions of the chromosome that when mutated cause organisms to develop abnormally and to create treatments to cure those kinds of disorders.

Katharina Dorothea Dalton was a physician in England in the twentieth century who defined premenstrual syndrome (PMS) as a cluster of symptoms suspected to begin one to two weeks before menstruation and disappear upon the onset of a new menstrual cycle. Prior to Dalton, there was little research on pre-menstrual issues and those that existed linked the problem to excessive water retention or estrogen. Dalton hypothesized that PMS resulted from a deficiency in the hormone progesterone and advocated for hormone replacement therapy to lessen the symptoms of the syndrome. Dalton established an early PMS clinic in London, England, and she testified on behalf of women in over fifty court cases claiming to have committed crimes while suffering from PMS.

In the early twentieth century US, Jean Paul Pratt and Edgar Allen conducted clinical experiments on women who had abnormal menstrual cycles. During the clinical tests, researchers injected the hormone estrogen into their patients to alleviate their menstrual ailments, which ranged from irregular cycles to natural menopause. The hormone estrogen plays a prominent role in the menstrual cycle by signaling the tissue lining the uterus (endometrium) to thicken in preparation for possible pregnancy. In their clinical tests, Pratt and Allen showed that injecting estrogen into female human subjects restored their normal menstrual cycle, removed symptoms such as hot flashes, and caused uterine tissue to grow. The clinical tests conducted by Pratt and Allen provided experimental evidence and justification for the injection of isolated estrogen in women to alleviate, for a short amount of time, different menstrual problems, and it contributed to later hormone therapy research.

Polycystic ovarian syndrome or PCOS is one of the most common reproductive conditions in women, and its symptoms include cystic ovaries, menstrual irregularities, and elevated androgen or male sex hormone levels. During the 1930s, Irving Freiler Stein and Michael Leventhal identified the syndrome and its symptoms. Women who experience symptoms of PCOS may also experience secondary symptoms, including infertility and diabetes. Though estimates vary and the causes of the syndrome are not clear as of 2017, PCOS affects approximately ten percent of women of reproductive age. Women who suspect they have symptoms of PCOS should see a doctor, as early treatment may help prevent long-term implications such as infertility, diabetes, and some types of cancers.