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7:00 video: This film is the first of a two part series on the evolution of new genetic information. Here we focus on Point Mutations - the simplest natural mechanisms known to increase the genetic information of a population. Our second film of the series will focus on duplication events - natural mutations that increase the total amount of genetic information of an individual. This film was produced under the guidance of molecular biologist Dr. Nicholas Casewell. http://www.lstmed.ac.uk/about/people/... Point mutations are small, natural edits in the DNA code of an individual. These edits can be passed from parent to child. Because they are mere edits, point mutations usually do not increase the total amount of information in an individual. As new information is gained, old information is lost. Point mutations do, however, increase the total amount of information within a population. In this film you will see several examples of beneficial point mutations which have enhanced a creatures abilities or even given rise to entirely new abilities. The first two examples were directly observed in bacteria by scientists in the lab. The third is a case found in domestic dogs, the last example was discovered in several species of wild animal.

She wanted to understand the effects of mutations that the gene for p53 is prone to. In dozens of simulations, she and her colleagues tracked how common p53 mutations further destabilize the already floppy protein, distorting it and preventing it from binding to DNA. Some simulations also revealed something else: a fingerhold for a potential drug. Once in a while, a small cleft forms in the mutated protein's core. When Amaro added virtual drug molecules into her models, the compounds lodged in that cleft, stabilizing p53 just enough to allow it to resume its normal functions.

This directed case study examines the molecular basis of cystic fibrosis to emphasize the relationship between the genetic code stored in a DNA sequence and the encoded protein's structure and function. Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein that functions to help maintain salt and water balance along the surface of the lung and gastrointestinal tract. This case introduces students to "Maggie," who has just been diagnosed with cystic fibrosis. The students must identify the mutation causing Maggie's disease by transcribing and translating a portion of the wildtype and mutated CFTR gene. Students then compare the three-dimensional structures of the resulting proteins to better understand the effect a single amino acid mutation can have on the overall shape of a protein. Students also review the concepts of tonicity and osmosis to examine how the defective CFTR protein leads to an increase in the viscosity of mucus in cystic fibrosis patients. This case was developed for use in an introductory college-level biology course but could also be adapted for use in an upper-level cell or molecular biology course.

Paul Andersen describes the major mutations found in the living world. He starts with an analogy comparing the information in DNA with the information in a recipe. Changes in the DNA can result in changes to the protein, like changes in the recipe can result in changes in the food. He describes the three major point mutations; substitutions, deletions and insertions. He also describes several chromosomal mutations.

Although genetic factors contribute to congenital heart disease, many children born with heart defects have healthy parents and siblings, suggesting that new mutations that arise spontaneously -- known as de novo mutations -- might contribute to the disease. New research shows that about 10 percent of these defects are caused by genetic mutations that are absent in the parents of affected children.

A gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people. Mutations range in size; they can affect anywhere from a single DNA building block (base pair) to a large segment of a chromosome that includes multiple genes.

"Biologists and informaticists at Indiana University have produced one of the most extensive pictures ever of mutation processes in the DNA sequence of an organism, elucidating important new evolutionary information about the molecular nature of mutations and how fast those heritable changes occur."

The Amoeba Sisters discuss gene and chromosome mutations and explore the significance of these changes.

The mouse is the leading organism for disease research. A rich resource of genetic variation occurs naturally in inbred and special strains owing to spontaneous mutations. However, one can also obtain desired gene mutations by using the following processes: targeted mutations that eliminate function in the whole organism or in a specific tissue; forward genetic screens using chemicals or transposons; or the introduction of exogenous transgenes as DNAs, bacterial artificial chromosomes (BACs) or reporter constructs. The mouse is the only mammal that provides such a rich resource of genetic diversity coupled with the potential for extensive genome manipulation, and is therefore a powerful application for modeling human disease.

Students can manipulate mutations in bunnies, such as fur color and teeth length. By altering the environmental factors, students can see how the bunny populations change over time. For example, in a warm environment, more bunnies will have brown fur, but in the cold environment, more bunnies will have white fur. The student worksheet includes instructions on how the simulator works. Then students perform a variety of "experiments" to explore mutations in the populations. I include this as part of a unit on evolution, so students are familiar with VIDA charts. Students complete a chart at the end of the activity to summarize how variations in populations lead to adaptation.

In 1977, a University of Oxford statistician named Richard Peto pointed out a simple yet puzzling biological fact: We humans should have a lot more cancer than mice, but we don't. Dr. Peto's argument was beguilingly simple. Every time a cell divides, there's a small chance it will gain a mutation that speeds its growth. Cells that accumulate several of these mutations may become cancerous. The bigger an animal is, the more cells it has, and the longer an animal lives, the more times its cells divide. We humans undergo about 10,000 times as many cell divisions as mice - and thus should be far more likely to get cancer.

Students begin by watching the online video clip and completing a worksheet. After that assignment, instructors can decide which of the two activities (or both!) to use in class. In Activity 1, students identify the locations on chromosomes of genes involved in cancer, using a set of 139 "Cancer Gene Cards" and associated posters. In Activity 2, students explore the genetic basis of cancer by examining cards that list genetic mutations found in the DNA of actual cancer patients. Small-group work spurs discussion about the genes that are mutated in different types of cancers and the cellular processes that the affected genes control. The Activity 1 and 2 Overview document provides short summaries of the two activities along with key concepts and learning objectives, background information, references and rubrics, and answers to students' questions. Both cancer discovery activities are appropriate for first-year high school biology (honors or regular), AP and IB Biology. Activity 2 is also appropriate for an undergraduate freshman biology class.

In our first animation of this series we learned how point mutations can edit genetic information. Here we see how duplication events can dramatically lengthen the genetic code of an individual. As point mutations add up in the duplicated region across generations, entirely new genes with new functions can evolve. In the video we see three examples of gene duplications resulting in new traits for the creatures who inherit them: the evolution of a venom gene in snakes, the evolution of leaf digestion genes in monkeys, and the evolution of burrowing legs in hunting dogs.

A stride to understand the cancer and move towards its prevention, this time experts from around the world involved in searching the genome of cancer have analyzed the mutational signatures, the processes of mutation in the DNA of cells (which are always in the origin of cancer) and they follow a fixed pattern.

Huntington disease is caused by a mutation in the HTT gene. Understanding how the mutation causes neurodegeneration might help researchers develop treatments that protect brain function. This animation describes the genetic defect that underlies Huntington disease. Created by the editors at Nature Reviews Disease Primers.

Scientists are now one step closer to understanding how genetic mutations contribute to autism. In a study released Thursday in the journal Cell, experts from UNC School of Medicine discovered how one specific autism-linked gene mutation actually works

Engaging list of 10 human genetic disorders (minimal information of structural mutations)

Explore eight different mutations with graphics, gene explanations, and phenotypic effects.

Mutations and genetic variation

Malaria has long been a problem in Mali. But in 2006, the situation got worse: a malaria-carrying mosquito species named Anopheles coluzzii became increasingly resistant to common insecticides. Scientists searched for an explanation in its genes. Somehow, the species had acquired mutations that were previously only found in another species, Anopheles gambiae - despite the fact that these two species didn't usually mate with each other, and that their hybrids tended to die without producing offspring of their own, the mutations were identical.