In 1987 Rebecca Louise Cann, Mark Stoneking, and Allan Charles Wilson published Mitochondrial DNA and Human Evolution in the journal Nature. The authors compared mitochondrial DNA from different human populations worldwide, and from those comparisons they argued that all human populations had a common ancestor in Africa around 200,000 years ago. Mitochondria DNA (mtDNA) is a small circular genome found in the subcellular organelles, called mitochondria. Mitochondria are organelles found outside of the nucleus in the watery part of the cell, called cytoplasm, of most complex cells (eukaryotes). Cann, Stoneking and Wilson collected mtDNA from 147 individuals from five different human geographical populations. Cann, Stoneking, and Wilson used mtDNA sequences to study the genetic differences and migration patterns of the human population through female inheritance. Mammals inherit mitochondria and mtDNA from their mothers through the egg cell (oocyte), and mitochondria are responsible for several maternally inherited diseases.
The Hayflick Limit is a concept that helps to explain the mechanisms behind cellular aging. The concept states that a normal human cell can only replicate and divide forty to sixty times before it cannot divide anymore, and will break down by programmed cell death or apoptosis. The concept of the Hayflick Limit revised Alexis Carrel's earlier theory, which stated that cells can replicate themselves infinitely. Leonard Hayflick developed the concept while at the Wistar Institute in Philadelphia, Pennsylvania, in 1965. In his 1974 book Intrinsic Mutagenesis, Frank Macfarlane Burnet named the concept after Hayflick. The concept of the Hayflick Limit helped scientists study the effects of cellular aging on human populations from embryonic development to death, including the discovery of the effects of shortening repetitive sequences of DNA, called telomeres, on the ends of chromosomes. Elizabeth Blackburn, Jack Szostak and Carol Greider received the Nobel Prize in Physiology or Medicine in 2009 for their work on genetic structures related to the Hayflick Limit.
Ontogeny and Phylogeny is a book published in 1977, in which the author Stephen J. Gould, who worked in the US, tells a history of the theory of recapitulation. A theory of recapitulation aims to explain the relationship between the embryonic development of an organism (ontogeny) and the evolution of that organism's species (phylogeny). Although there are several variations of recapitulationist theories, most claim that during embryonic development an organism repeats the adult stages of organisms from those species in it's evolutionary history. Gould suggests that, although fewer biologists invoked recapitulation theories in the twentieth century compared to those in the nineteenth and eighteenth centuries, some aspects of the theory of recapitulation remained important for understanding evolution. Gould notes that the concepts of acceleration and retardation during development entail that changes in developmental timing (heterochrony) can result in a trait appearing either earlier or later than normal in developmental processes. Gould argues that these changes in the timing of embryonic development provide the raw materials or novelties upon which natural selection acts.
The Spandrels of San Marco and the Panglossian Paradigm: A Critique of the Adaptationist Programme, hereafter called The Spandrels, is an article written by Stephen J. Gould and Richard C. Lewontin published in the Proceedings of the Royal Society of London in 1979. The paper emphasizes issues with what the two authors call adaptationism or the adaptationist programme as a framework to explain how species and traits evolved. The paper is one in a series of works in which Gould emphasized the role of development in evolutionary theories. The article suggests that constraints on how organisms can develop and constraints on how species can evolve from others play a central role in explaining the how species and traits evolve. The authors note that organisms from different species develop as embryos through stages similar across species, genera, and higher classes. Gould and Lewontin hypothesize that those stages constrained the possible pathways of evolution and has therefore guided the history of life. Throughout the paper, the authors rely on analogy of some parts of organisms to architectural structures called spandrels, marked in this image as 'a'."
Mitochondrial DNA (mtDNA) is located outside the nucleus in the liquid portion of the cell (cytoplasm) inside cellular organelles called Mitochondria. Mitochondria are located in all complex or eukaryotic cells, including plant, animal, fungi, and single celled protists, which contain their own mtDNA genome. In animals with a backbone, or vertebrates, mtDNA is a double stranded, circular molecule that forms a circular genome, which ranges in size from sixteen to eighteen kilo-base pairs, depending on species. Each mitochondrion in a cell can have multiple copies of the mtDNA genome. In humans, the mature egg cell, or oocyte, contains the highest number of mitochondria among human cells, ranging from 100,000 to 600,000 mitochondria per cell, but each mitochondrion contains only one copy of mtDNA. In human embryonic development, the number of mitochondria, the content of mtDNA in each mitochondrion, and the subsequent mtDNA activity affects the production of the oocytes, fertilization of the oocytes, and early embryonic growth and development.
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.
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.
Telomerase is an enzyme that regulates the lengths of telomeres in the cells of many organisms, and in humans it begins to function int the early stages of embryonic development. Telomeres are repetitive sequences of DNA on the ends of chromosomes that protect chromosomes from sticking to each other or tangling. In 1989, Gregg Morin found that telomerase was present in human cells. In 1996, Woodring Wright and his team examined human embryonic cells and found that telomerase was active in them. Scientists manipulate telomerase in cells to give cells the capacity to replicate infinitely. Telomerase is also necessary for stem cells to replicate themselves and to develop into more specialized cells in embryos and fetuses.
The Y-chromosome is one of a pair of chromosomes that determine the genetic sex of individuals in mammals, some insects, and some plants. In the nineteenth and twentieth centuries, the development of new microscopic and molecular techniques, including DNA sequencing, enabled scientists to confirm the hypothesis that chromosomes determine the sex of developing organisms. In an adult organism, the genes on the Y-chromosome help produce the male gamete, the sperm cell. Beginning in the 1980s, many studies of human populations used the Y-chromosome gene sequences to trace paternal lineages. In mammals, the Y-chromosomes contain the master-switch gene for sex determination, called the sex-determining region Y, or the SRY gene in humans. In most normal cases, if a fertilized egg cell, called a zygote, has the SRY gene, the zygote develops into an embryos that has male sex traits. If the zygote lacks the SRY gene or if the SRY gene is defective, the zygote develops into an embryo that has female sex traits.
Revive and Restore is a California-based nonprofit that uses genetic engineering to help solve conservation problems, such as saving endangered species and increasing the biodiversity of ecosystems. To facilitate their solutions, Revive and Restore utilizes genetic engineering, which is the process of making changes to an organism’s DNA, or the set of instructions for how an organism develops and functions. One of their broad solutions is genetic rescue, which involves imbuing populations of endangered species with a wider variety of traits to make them more adaptable to a changing environment. Their other solution is de-extinction, which takes a more radical approach by attempting to recreate extinct species that performed important roles in their ecosystems. While scientists working with Revive and Restore have helped advance genome editing technology on a theoretical and technical level, their research has also prompted practical and ethical concerns over the extent of permissible human interference with nature, even when attempting to conserve it.