Oswald Theodore Avery studied strains of pneumococcus of the genus Streptococcus in the US in the first half of the twentieth century. This bacterium causes pneumonia, a common cause of death at the turn of the twentieth century. In a 1944 paper, Avery demonstrated with colleagues Colin Munro MacLeod and Maclyn McCarty that deoxyribonucleic acid, or DNA, instead of protein, formed the material of heritable transformation in bacteria. Avery helped untangle some of the relationships between genes and developmental processes.
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.
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.
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.
In 2006, Kazutoshi Takahashi and Shinya Yamanaka reprogrammed mice fibroblast cells, which can produce only other fibroblast cells, to become pluripotent stem cells, which have the capacity to produce many different types of cells. Takahashi and Yamanaka also experimented with human cell cultures in 2007. Each worked at Kyoto University in Kyoto, Japan. They called the pluripotent stem cells that they produced induced pluripotent stem cells (iPSCs) because they had induced the adult cells, called differentiated cells, to become pluripotent stem cells through genetic manipulation. Yamanaka received the Nobel Prize in Physiology or Medicine in 2012, along with John Gurdon, as their work showed scientists how to reprogram mature cells to become pluripotent. Takahashi and Yamanaka's 2006 and 2007 experiments showed that scientists can prompt adult body cells to dedifferentiate, or lose specialized characteristics, and behave similarly to embryonic stem cells (ESCs).
Charles Robert Cantor helped sequence the human genome, and he developed methods to non-invasively determine the genes in human fetuses. Cantor worked in the US during the twentieth and twenty-first centuries. His early research focused on oligonucleotides, small molecules of DNA or RNA. That research enabled the development of a technique that Cantor subsequently used to describe nucleotide sequences of DNA, a process called sequencing, in humans. Cantor was the principal scientist for the Human Genome Project, for which scientists sequenced the entirety of the human genome in 2003. Afterwards, Cantor became the chief scientific officer for Sequenom Inc., a company that provided non-invasive prenatal genetic testing. Such tests use a pregnant woman's blood to identify genetic mutations in a fetus during the first trimester of pregnancy.
Experiments conducted by Elizabeth Blackburn, Carol Greider, and Jack Szostak from 1982 to 1989 provided theories of how the ends of chromosomes, called telomeres, and the enzyme that repairs telomeres, called telomerase, worked. The experiments took place at the Sidney Farber Cancer Institute and at Harvard Medical School in Boston, Massachusetts, and at the University of California in Berkeley, California. For their research on telomeres and telomerase, Blackburn, Greider, and Szostak received the Nobel Prize in Physiology or Medicine in 2009. Telomeres and telomerase affect the lifespan of mammalian cells and ensure that cells rapidly develop within developing embryos.
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 differentiate into more specific cell kinds among different organisms.
Telomeres are sequences of DNA on the ends of chromosomes that protect chromosomes from sticking to each other or tangling, which could cause irregularities in normal DNA functions. As cells replicate, telomeres shorten at the end of chromosomes, which correlates to senescence or cellular aging. Integral to this process is telomerase, which is an enzyme that repairs telomeres and is present in various cells in the human body, especially during human growth and development. Telomeres and telomerase are required for normal human embryonic development because they protect DNA as it completes multiple rounds of replication.
Carol Widney Greider studied telomeres and telomerase in the US at the turn of the twenty-first century. She worked primarily at the University of California, Berkeley in Berkeley, California. She received the Nobel Prize in Physiology or Medicine in 2009, along with Elizabeth Blackburn and Jack Szostak, for their research on telomeres and telomerase. Telomeres are repetitive sequences of DNA at the ends of chromosomes that protect chromosomes from tangling, and they provide some protection from mutations. Greider also studied telomerase, an enzyme that repairs telomeres. Without telomeres, chromosomes are subject to mutations that can lead to cell death, and without telomerase, cells might not reproduce fast enough during embryonic development. Greider's research on telomeres helped scientists explain how chromosomes function within cells.