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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
Using Digital PCR to Detect Fetal Chromosomal Aneuploidy in Maternal Blood (2007)
In 2007, Dennis Lo and his colleagues used digital polymerase chain reaction or PCR to detect trisomy 21 in maternal blood, validating the method as a means to detect fetal chromosomal aneuploidies, or an abnormal number of chromosomes in a cell. The team conducted their research at the Chinese University of Hong Kong in Hong Kong, Hong Kong, and at the Boston University in Boston, Massachusetts.
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
The Human Genome Project (1990-2003)
The Human Genome Project (HGP) was an international scientific effort to sequence the entire human genome, that is, to produce a map of the base pairs of DNA in the human chromosomes, most of which do not vary among individuals. The HGP started in the US in 1990 as a public effort and included scientists and laboratories located in France, Germany, Japan, China, and the United Kingdom.
The Shettles Method of Sex Selection
In the 1960s in the United States Landrum B. Shettles developed the Shettles method, which is a procedure for couples to use prior to and during an intercourse to increase their chances of conceiving a fetus of their desired sex. Shettles, a physician, who specialized in obstetrics and gynecology, found a difference in the size and shape of male sperm cells that he correlated with the different sex chromosomes they carry.
Subject: Technologies, Reproduction
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.
John Langdon Down (1828–1896)
John Langdon Down studied medicine in England in the nineteenth century and was one of the first people to develop a complete description of the disorder that would later be known as Trisomy 21, or Down Syndrome. Down Syndrome is a condition caused by the presence of an extra chromosome, which may cause a person to be born with certain impaired learning abilities and physical features such as a short neck, flattened face, and almond-shaped eyes.
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.
Telomeres and Telomerase in Cellular Aging (Senescence)
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.
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.
Your Baby’s Sex: Now You Can Choose (1970), by David M. Rorvik and Landrum B. Shettles
In the book Your Baby’s Sex: Now You Can Choose, David Michael Rorvik and Landrum Brewer Shettles describe methods that couples can use prior to and during conception that will increase the chances of producing a child of their desired sex. Rorvik, a science writer, and Shettles, an obstetrics and gynecology researcher and physician, co-wrote the book. Shettles developed the methods detailed in the book during the 1960s. Although the authors claim a high success rate, some researchers have contested the validity of the methods proposed in Your Baby’s Sex: Now You Can Choose.
The Miracle of Life (1983), by NOVA
The most-watched NOVA documentary ever made and a revolution in the understanding of human development, The Miracle of Life (abbreviated Life) employs the most current developments in endoscopic and microscopic technology to capture the intricacies of human development. Narrated by Anita Sangiolo and vividly illustrating the most minute and hard-to-reach parts and processes of living systems, this film truly flexes the muscles of the newest photographic technology of its time, with esteemed photographer Lennart Nilsson behind the camera.
Subject: Outreach, Reproduction
Serial Cultivation of Human Diploid Cells in the Lab (1958–1961) by Leonard Hayflick and Paul S. Moorhead
From 1958 to 1961, Leonard Hayflick and Paul Moorhead in the US developed a way in the laboratory to cultivate strains of human cells with complete sets of chromosomes. Previously, scientists could not sustain cell cultures with cells that had two complete sets of chromosomes like normal human cells (diploid). As a result, scientists struggled to study human cell biology because there was not a reliable source of cells that represented diploid human cells. In their experiments, Hayflick and Moorhead created lasting strains of human cells that retained both complete sets of chromosomes.
“A Linkage Between DNA Markers on the X Chromosome and Male Sexual Orientation” (1993), by Dean H. Hamer and Charles A. Thomas.
In 1993, Dean H. Hamer and colleagues in the US published results from their research that indicated that men with speicifc genes were more likely to be homosexual than were men without those genes. The study hypothesized that some X chromosomes contain a gene, Xq28, that increases the likelihood of an individual to be homosexual. Prior to those results, researchers had argued that the cause of homosexuality was environmental and that homosexuality could be altered or reversed. Hamer’s research suggested a possible genetic cause of homosexuality.
Julia Bell (1879-1979)
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.
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
"MicroSort, developed in 1990 by the Genetics and IVF Institute, is a form of pre-conception sex selection technology for humans. Laboratories located around the world use MicroSort technology to help couples increase their chances of conceiving a child of their desired sex. MicroSort separates male sperm cells based on which sex chromosome they contain, which results in separated semen samples that contain a higher percentage of sperm cells that carry the same sex chromosome.
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene
The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was identified in 1989 by geneticist Lap-Chee Tsui and his research team as the gene associated with cystic fibrosis (CF). Tsui's research pinpointed the gene, some mutations to which cause CF, and it revealed the underlying disease mechanism. The CFTR gene encodes a protein in the cell membrane in epithelial tissues and affects multiple organ systems in the human body. Mutations in the CFTR gene cause dysfunctional regulation of cell electrolytes and water content.
Subject: Disorders, Reproduction
The Effects of Diethylstilbestrol on Embryonic Development
Estrogen plays a key role in the regulation of gene transcription. This is accomplished by its ability to act as a ligand and to bind to specific estrogen receptor (ER) molecules, such as ERα and ERβ, which act as nuclear transcription factors. There are three major nuclear estrogen receptor protein domains: the estrogen binding domain, the protein interaction domain, and the DNA binding domain.
"Embryonic Stem Cell Lines Derived from Human Blastocytes" (1998), by James Thomson
After becoming chief pathologist at the University of Wisconsin-Madison Wisconsin Regional Primate Center in 1995, James A. Thomson began his pioneering work in deriving embryonic stem cells from isolated embryos. That same year, Thomson published his first paper, "Isolation of a Primate Embryonic Stem Cell Line," in Proceedings of the National Academy of Sciences of the United States of America, detailing the first derivation of primate embryonic stem cells. In the following years, Thomson and his team of scientists - Joseph Itskovitz-Eldor, Sander S. Shapiro, Michelle A.
Subject: Experiments, Publications
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
In humans, multi-fetal pregnancy occurs when a mother carries more than one fetus during the pregnancy. The most common multi-fetal pregnancy is twins, but mothers have given birth to up to eight children (octuplets) from a single pregnancy. Multiple fetusus can result from the release of multiple eggs or multiple ovulations, the splitting of a single fertilized egg, and fertility treatments such as in vitro fertilization (IVF) which involves the insertion of many fertilized eggs into the mother's uterus.
Subject: Processes, Reproduction
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
In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice, nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of eighteen months. After extensively studying the abnormal characteristics of the infant, Niemann came to the conclusion that the disease was a variant of Gaucher's disease.
Human Fertilisation and Embryology Act (1990)
The Human Fertilisation and Embryology Act 1990 established the legal framework that governs infertility treatment, medical services ancillary to infertility treatment such as embryo storage, and all human embryological research performed in the UK. The law also defines a legal concept of the parent of a child conceived with assisted reproductive technologies.
Subject: Legal, Reproduction, Ethics