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. Looking for evidence that SRY was the TDF, Goodfellow and colleagues examined people who were anatomically female, but whose cells had Y chromosomes. Females normally have cells with two X sex chromosomes (XX), while males normally have cells with one X and one Y chromosome (XY). Goodfellow's team discovered that individuals with Y chromosomes developed as female instead of as male due to inactive SRY sequences on the Y chromosome. Goodfellow and colleagues compiled the results of their experiment in a paper titled Genetic Evidence Equating SRY and the Testis-Determining Factor in 1990. Their results showed that the SRY gene is necessary for male characteristics to develop in embryos, and that SRY encodes the TDF protein.

Julia Bell worked in twentieth-century Britain, discovered Fragile X Syndrome, and helped find heritable elements of other developmental and genetic disorders. Bell also wrote much of the five volume Treasury of Human Inheritance, a collection about genetics and genetic disorders. Bell researched until late in life, authoring an original research article on the effects of the rubella virus of fetal development (Congenital Rubella Syndrome) at the age of 80.

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. The Sry protein is also called the testis-determining factor (TDF), a protein that initiates male development in humans, placental mammals, and marsupials. The Sry protein is a transcription factor that can bind to regions of testis-specific DNA, bending specific DNA and activating or enhancing its abilities to promote testis formation, marking the first step towards male, rather than female, development in the embryo.

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. The Notch signaling pathway is active in multiple aspects of somitogenesis, and it continues to be a critical regulator during myogenesis. Throughout the life of an organism, Notch signaling prevents the differentiation of muscle progenitor cells into muscle cells. Such preventions help maintain populations of progenitor cells that can remain dormant until the growth or repair of muscle is necessary, at which point the Notch signal to the muscle progenitor cells is disrupted, and the muscle progenitor cells differentiate into muscle fibers and cells. Without Notch signaling, myogenesis proceeds prematurely and dissipates before mature muscle can form.

Edmund Beecher Wilson contributed to cell biology, the study of cells, in the US during the end of the nineteenth and the beginning of the twentieth centuries. His three editions of The Cell in Development and Inheritance (or Heredity) in 1896, 1900, and 1925 introduced generations of students to cell biology. In The Cell, Wilson described the evidence and theories of his time about cells and identified topics for future study. He helped show how each part of the cell works during cell division and in every step of early development of an organism. Developmental biologists trained in the mid-twentieth century reported WilsonÕs text as their foundation for understanding biology, including about how cells, development, heredity, and evolution interact. Wilson considered cells as the center of all biological phenomena.

Francis Harry Compton Crick, who co-discovered the structure of deoxyribonucleic acid (DNA) in 1953 in Cambridge, England, also developed The Central Dogma of Molecular Biology, and further clarified the relationship between nucleotides and protein synthesis. Crick received the Nobel Prize in Physiology or Medicine that he shared with James Watson and Maurice Wilkins in 1962 for their discovery of the molecular structure of DNA. Crick's results on the genetic material found in all living organisms advanced theories of inheritance and spurred further studies into the field of genetics and embryology.

Walter Stanborough Sutton studied grasshoppers and connected the phenomena of meiosis, segregation, and independent assortment with the chromosomal theory of inheritance in the early twentieth century in the US. Sutton researched chromosomes, then called inheritance mechanisms. He confirmed a theory of Wilhelm Roux, who studied embryos in Breslau, Germany, in the late 1880s, who had argued that chromosomes and heredity were linked. Theodor Boveri, working in Munich, Germany, independently reached similar conclusions about heredity as Sutton. Later scientists named the theory The Sutton-Boveri Theory, or The chromosomal theory of inheritance.

Barbara McClintock worked on genetics in corn (maize) plants and spent most of her life conducting research at the Cold Spring Harbor Laboratory in Laurel Hollow, New York. McClintock's research focused on reproduction and mutations in maize, and described the phenomenon of genetic crossover in chromosomes. Through her maize mutation experiments, McClintock observed transposons, or mobile elements of genes within the chromosome, which jump around the genome. McClintock received the Nobel Prize for Physiology or Medicine in 1983 for her research on chromosome transposition. McClintock's work helped explain the behavior of chromosomes in organismal development and identified transposition as a cause of genetic variation.

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. Koopman's team published their results in 1991 in Male Development of Chromosomally Female Mice Transgenic for Sry gene. Their results showed that Sry gene partly determines the sex of an embryo and is the only gene on the Y chromosome necessary for initiation of male development in mice.

Angelman syndrome is a disorder in humans that causes neurological symptoms such as lack of speech, jerky movements, and insomnia. A human cell has two copies of twenty-three chromosomes for a total of forty-six-one copy from its mother and one from its father. But in the case of Angelman syndrome, the maternal chromosome numbered 15 has a mutation or deletion in its DNA and a gene on the paternal chromosome 15 is inactivated in some parts the brain. The result is the paternal gene is silenced during development of the sperm, which is called genetic imprinting. Angelman syndrome was one of the first disorders described as caused by genetic imprinting.