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Meiosis in Humans
Meiosis, the process by which sexually-reproducing organisms generate gametes (sex cells), is an essential precondition for the normal formation of the embryo. As sexually reproducing, diploid, multicellular eukaryotes, humans rely on meiosis to serve a number of important functions, including the promotion of genetic diversity and the creation of proper conditions for reproductive success.
Subject: Processes, Reproduction
Andrew Francis Dixon (1868-1936)
Andrew Francis Dixon studied human anatomy and egg cells at the turn of the twentieth century in Ireland and Great Britain. Dixon studied the sensory and motor nervous system of the face, the cancellous bone tissue of the femur, supernumerary kidneys, and the urogenital system. In 1927 Dixon described a mature human ovarian follicle. This follicle, Dixon noted, contained an immature human egg cell (oocyte) with a visible first polar body and the beginnings of the second polar body.
Shoukhrat Mitalipov and Masahito Tachibana’s Mitochondrial Gene Replacement in Primate Offspring and Embryonic Stem Cells (2009)
Shoukhrat Mitalipov, Masahito Tachibana, and their team of researchers replaced the mitochondrial genes of primate embryonic stem cells via spindle transfer. Spindle replacement, also called spindle transfer, is the process of removing the genetic material found in the nucleus of one egg cell, or oocyte, and placing it in another egg that had its nucleus removed. Mitochondria are organelles found in all cells and contain some of the cell’s genetic material. Mutations in the mitochondrial DNA can lead to neurodegenerative and muscle diseases.
Walter Stanborough Sutton (1877-1916)
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.
Shoukhrat Mitalipov and Masahito Tachibana's Mitochondrial Gene Replacement Therapy Technique
In 2009, Shoukhrat Mitalipov, Masahito Tachibana, and their team of researchers developed the technology of mitochondrial gene replacement therapy to prevent the transmission of a mitochondrial disease from mother to offspring in primates. Mitochondria contain some of the body's genetic material, called mitochondrial DNA. Occasionally, the mitochondrial DNA possesses mutations.
The Cell in Development and Inheritance (1900), by Edmund Beecher Wilson
The Cell in Development and Inheritance, by Edmund Beecher Wilson, provided a textbook introduction to cell biology for generations of biologists in the twentieth century. In his book, Wilson integrated information about development, inheritance, chromosomes, organelles, and the structure and functions of cells. First published in 1896, the book started with 371 pages, grew to 483 pages in the second edition that appeared in 1900, and expanded to 1,231 pages by the third and final edition in 1925.
Mitochondrial Diseases in Humans
Mitochondrial diseases in humans result when the small organelles called mitochondria, which exist in all human cells, fail to function normally. The mitochondria contain their own mitochondrial DNA (mtDNA) separate from the cell's nuclear DNA (nDNA). The main function of mitochondria is to produce energy for the cell. They also function in a diverse set of mechanisms such as calcium hemostasis, cell signaling, regulation of programmed cell death (apoptosis), and biosynthesis of heme proteins that carry oxygen.
Subject: Disorders, Reproduction
Curt Jacob Stern (1902-1981)
Curt Jacob Stern studied radiation and chromosomes in humans and fruit flies in the United States during the twentieth century. He researched the mechanisms of inheritance and of mitosis, or the process in which the chromosomes in the nucleus of a single cell, called the parent cell, split into identical sets and yield two cells, called daughter cells. Stern worked on the Drosophila melanogaster fruit fly, and he provided early evidence that chromosomes exchange genetic material during cellular reproduction.
Barbara McClintock's Transposon Experiments in Maize (1931–1951)
Barbara McClintock conducted experiments on corn (Zea mays) in the United States in the mid-twentieth century to study the structure and function of the chromosomes in the cells. McClintock researched how genes combined in corn and proposed mechanisms for how those interactions are regulated. McClintock received the Nobel Prize in Physiology or Medicine in 1983, the first woman to win the prize without sharing it. McClintock won the award for her introduction of the concept of transposons, also called jumping genes.
Trisomy 18 (Edwards Syndrome)
John Hilton Edwards first described the symptoms of the genetic disorder known as Trisomy 18 - one of the most common forms of trisomy, which occurs when cells have an extra copy of a chromosome, in humans - in 1960. Trisomy 18, also known as Edwards Syndrome, occurs approximately once per 6000 live births and is second in frequency only to Trisomy 21, or Down's Syndrome, as an autosomal trisomy. Trisomy 18 causes substantial developmental problems in utero.
Calvin Bridges’ Experiments on Nondisjunction as Evidence for the Chromosome Theory of Heredity (1913-1916)
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.
Subject: Experiments, Publications
Theodor Heinrich Boveri (1862-1915)
Theodor Boveri investigated the mechanisms of heredity. He developed the chromosomal theory of inheritance and the idea of chromosomal individuality. Boveri sought to provide a comprehensive explanation for the hereditary role and behavior of chromosomes. He hoped that his experiments would also help to distinguish the roles of the nucleus and the cytoplasm in embryogenesis. Boveri was particularly interested in how offspring are shaped by the attributes of their parents.
The Effects of Bisphenol A on Embryonic Development
Bisphenol A (BPA) is an organic compound that was first synthesized by Aleksandr Dianin, a Russian chemist from St. Petersburg, in 1891. The chemical nomenclature of BPA is 2,2-bis (4-hydroxyphenyl) propane. The significance of this synthesized compound did not receive much attention until 1936, when two biochemists interested in endocrinology, Edward Dodds and William Lawson, discovered its ability to act as an estrogen agonist in ovariectomized, estrogen-deficient rats.
Subject: Disorders, Reproduction
Barbara McClintock (1902-1992)
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.
Process of Eukaryotic Embryonic Development
All sexually reproducing, multicellular diploid eukaryotes begin life as embryos. Understanding the stages of embryonic development is vital to explaining how eukaryotes form and how they are related on the tree of life. This understanding can also help answer questions related to morphology, ethics, medicine, and other pertinent fields of study. In particular, the field of comparative embryology is concerned with documenting the stages of ontogeny.
Sex Determination in Humans
In humans, sex determination is the process that determines the biological sex of an offspring and, as a result, the sexual characteristics that they will develop. Humans typically develop as either male or female, primarily depending on the combination of sex chromosomes that they inherit from their parents. The human sex chromosomes, called X and Y, are structures in human cells made up of tightly bound deoxyribonucleic acid, or DNA, and proteins.
The Y-Chromosome in Animals
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.
Subject: Reproduction, Theories
Sex-determining Region Y in Mammals
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.
Robert Geoffrey Edwards's Study of in vitro Mammalian Oocyte Maturation, 1960 to 1965
In a series of experiments between 1960 and 1965, Robert Geoffrey Edwards discovered how to make mammalian egg cells, or oocytes, mature outside of a female's body. Edwards, working at several research institutions in the UK during this period, studied in vitro fertilization (IVF) methods. He measured the conditions and timings for in vitro (out of the body) maturation of oocytes from diverse mammals including mice, rats, hamsters, pigs, cows, sheep, and rhesus monkeys, as well as humans.
Subject: Experiments, Reproduction
George Wells Beadle (1903-1989)
George Wells Beadle studied corn, fruit flies, and funguses in the US during the twentieth century. These studies helped Beadle earn the 1958 Nobel Prize in Physiology or Medicine. Beadle shared the prize with Edward Tatum for their discovery that genes help regulate chemical processes in and between cells. This finding, initially termed the one gene-one enzyme hypothesis, helped scientists develop new techniques to study genes and DNA as molecules, not just as units of heredity between generations of organisms.
Keith Henry Stockman Campbell (1954-2012)
Keith Henry Stockman Campbell studied embryo growth and cell differentiation during the twentieth and twenty-first centuries in the UK. In 1995, Campbell and his scientific team used cells grown and differentiated in a laboratory to clone sheep for the first time. They named these two sheep Megan and Morag. Campbell and his team also cloned a sheep from adult cells in 1996, which they named Dolly. Dolly was the first mammal cloned from specialized adult (somatic) cells with the technique of somatic cell nuclear transfer (SCNT).
Life's Greatest Miracle (2001), by Julia Cort and NOVA
The Public Broadcasting Station (PBS) documentary Life's Greatest Miracle (abbreviated Miracle, available at http://www.pbs.org/wgbh/nova/miracle/program.html), is arguably one of the most vivid illustrations of the making of new human life. Presented as part of the PBS television series NOVA, Miracle is a little less than an hour long and was first aired 20 November 2001. The program was written and produced by Julia Cort and features images by renowned Swedish photographer Lennart Nilsson.
Subject: Outreach, Reproduction
Somatic Cell Nuclear Transfer in Mammals (1938-2013)
In the second half of the
twentieth century, scientists learned how to clone organisms in some
species of mammals. Scientists have applied somatic cell nuclear transfer to clone human and
mammalian embryos as a means to produce stem cells for laboratory
and medical use. Somatic cell nuclear transfer (SCNT) is a technology applied in cloning, stem cell
research and regenerative medicine. Somatic cells are cells that
have gone through the differentiation process and are not germ
cells. Somatic cells donate their nuclei, which scientists
Subject: Theories, Technologies, Processes
Trisomy 21 (Down Syndrome)
As of 2022, Trisomy 21 is the most common type of trisomy, or a condition where the person has three instead of the normal two copies of one of the chromosomes. Trisomy occurs when abnormal cell division takes place leading to an extra copy of a chromosome. That extra copy of chromosome 21 results in a congenital disorder called Down syndrome, which is characterized by a cluster of specific traits including intellectual disabilities, atypical facial appearance, and a high risk of heart disease.
Subject: Reproduction, Disorders, Ethics