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DNA and X and Y Chromosomes

Y-chromosomes exist in the body cells of many kinds of male animals. Found in the nucleus of most living animal cells, the X and Y-chromosomes are condensed structures made of DNA wrapped around proteins called histones. The individual histones bunch into groups that the coiled DNA wraps around called a nucleosome, which are roughly 10 nano-meters (nm) across. The histones bunch together to form a helical fiber (30 nm) that spins into a supercoil (200 nm). During much of a cell's life, DNA exists in the 200 nm supercoil phase.

Format: Graphics

Subject: Theories, Processes

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.

Format: Articles

Subject: Reproduction, Theories

Theophilus Shickel Painter (1889-1969)

Theophilus Shickel Painter studied the structure and
function of chromosomes in the US during in the early to mid-twentieth century. Painter worked at
the University of Texas at Austin in Austin, Texas. In the 1920s
and 1930s, Painter studied the chromosomes of the salivary gland
giant chromosomes of the fruit fly (Drosophila
melanogaster), with Hermann J. Muller. Muller and Painter
studied the ability of X-rays to cause changes in the chromosomes
of fruit flies. Painter also studied chromosomes in mammals.

Format: Articles

Subject: People

Angelman Syndrome

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.

Format: Articles

Subject: Disorders

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.

Format: Articles

Subject: Outreach, Reproduction

In the Womb (2005), by Toby Mcdonald and National Geographic Channel

Written, produced, and directed by Toby Mcdonald, the 2005 National Geographic Channel film In the Womb uses the most recent technology to provide an intricate glimpse into the prenatal world. The technologies used, which include advanced photography, computer graphics, and 4-D ultrasound imaging, help to realistically illustrate the process of development and to answer questions about the rarely seen development of a human being.

Format: Articles

Subject: Outreach, Reproduction

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.

Format: Articles

Subject: Processes, Reproduction

"Genetic Evidence Equating SRY and the Testis-Determining Factor" (1990), by Phillippe Berta et al.

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.

Format: Articles

Subject: Experiments

Telomerase in Human Development

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.

Format: Articles

Subject: Theories

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.

Format: Articles

Subject: Experiments

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.

Format: Articles

Subject: Technologies, Reproduction

"Male Development of Chromosomally Female Mice Transgenic for Sry gene" (1991), by Peter Koopman, et al.

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.

Format: Articles

Subject: Experiments

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.

Format: Articles

Subject: Organizations

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.

Format: Articles

Subject: Technologies

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.

Format: Articles

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.

Format: Articles

Subject: Experiments

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.

Format: Articles

Subject: Disorders

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.

Format: Articles

Subject: Theories

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.

Format: Articles

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.

Format: Articles

Subject: Experiments

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.

Format: Articles

Subject: People

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.

Format: Articles

Subject: Disorders, Reproduction

“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.

Format: Articles

Subject: Experiments

Alec John Jeffreys (1950–)

Alec John Jeffreys created a process called DNA fingerprinting in the UK during the twentieth century. For DNA fingerprinting, technicians identify a person as the source of a biological sample by comparing the genetic information contained in the person's DNA to the DNA contained in the sample. Jeffreys developed the technique in the 1980s while at the University of Leicester in Leicester, UK. Jeffreys's technique had immediate applications. In forensic science, DNA fingerprinting enabled police to identify suspects of crimes based on their genetic identities.

Format: Articles

Subject: People

Studies in Spermatogenesis (1905), by Nettie Maria Stevens

Studies in Spermatogenesis is a two volume book written by Nettie Maria Stevens, and published by the Carnegie Institution of Washington in 1905 and 1906. In the books Stevens explains the research she conducted on chromosomal sex determination in the sperm and egg cells of insect species while at Bryn Mawr College, near Philadelphia, Pennsylvania. Studies in Spermatogenesis described early examples of chromosomal XY sex-determination.

Format: Articles

Subject: Publications

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