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Big Science, Little Flies
Codon Repeats in Evolution and Genetic Disease
Cookie Barker, Kevin Bryan, Saundra Coffey, Ryan Gunhold, Martha Hicks,
 Jenifer McMurray, Sharonoa Moss, Maureen Nosal, Everett Parker, Stephanie Thompson




 
Student Activity  Project References
Standards

Abstract: Drosophila (fruit flies) are an excellent tool for research. Much is known about their genetics and they are easily manipulated. In our research we investigated codon expansions in a specific gene region using 10 species of Drosophila. The gene of interest, the glass gene, is important in eye development and provides a basis for examining both human disease and molecular evolution.

Background:  Our genetic code, DNA, often mutates during replication.  In addition to the more well-known types of mutations (point, frame-shift, deletions), codon expansions are mutations involving repeated 3 base units.  These expansions correlate with certain genetic diseases and may provide a basis for studying the evolutionary relationships of diseases.   (For more, click on the Introduction link to the left.)

Procedures:

1. DNA Isolation
2. Polymerase Chain Reaction
3. Visualizing DNA (Electrophoresis)
4. Gene Cleaning
5. Sequencing Reaction
6. Assessing the Sequence (BLAST)


 

"The Fly Mashers"

 

Ethical Topics:  Genetic research has advanced in the last decade to the point where it is now possible to do genetic testing for a particular disease.  This possibility brings about some ethical concerns.  Some points for discussion may include:

  • Animal models for research - Why are they important?
  • Informed consent - Before "they" take that glass or brush with your cells left behind and then remove the DNA to know your genetic profile, should you have to give consent?
  • Patents on DNA - The genetic code is universal and thus belongs to everyone. If a scientist discovers a part of DNA (genes) which has a special function, should they be able to have exclusive monetary rights to that information?
  • Right to know - Just one cell, that's all it could take to get your DNA profile. What if it says bad things about your future health? Who should have access to this information?
  • Genetic manipulation - What if we can change the future of children by altering genes before conception or choosing for traits within an embryo? Just because we can, should we?
  • Ownership - What are the intellectual property rights to ideas, primers, genes discovered?

Ethics Case Study

Activities:

  1. Dialogue - An introductory paired activity discussing what codon expansions and Poly Q diseases are and how they apply to fruit fly research.
  2. Huntington's Disease (WebQuest) An interactive activity where students explore the physical and emotional effects of having a genetic disease.
  3. Ethics - A multi-part case study of ethical issues surrounding a diagnosis of Huntington's Disease.
  4. Classification - Introductory inquiry.
  5. Evolution - Aligning Nucleotides - Hands-on activities in which students align nucleotide sequences, determine amino acid sequences and estimate evolutionary relationships between organisms.
  6. Bioinformatics - Two activities that use DNA sequences and Internet Tools to align genes and construct evolutionary relationships.
   
Thanks and Acknowledgement to our mentors:

Bonacum
, James (2002) Lecture, Technical Assistance.  American Museum of Natural History, New York, NY.
DeSalle
, Robert (2002) Personal Interview. Curator of the American Museum of Natural History and Co-Director of the Molecular Systematics Lab, New York, NY.
Zilversmit, Martine (2002) Unpublished Data, Technical Assistance.  Graduate Student, Harvard University, Cambridge, MA.
 

For More Information:

Cummings, CJ, and Zoghbi, HY, (2000),"Trinucleotide Repeats: Mechanisms and Pathophsiology,"  Annual Review of Genomics Human Generation, v.1, pp. 281-328.

Jackson, George R., Slacker, Iris, Dong, Xinzhong, Yao, Xiang, Arnheim, Norman, Faber, Peter W.,    MacDonald, Marcy E., & Zipursky, Lawrence, S., Polyglutamine (1998), - Expanded Human Huntington Transgenus Induce Degeneration of Drisophila Photoreceptor Neurons. Neuron, v.21, pp. 633-642.

Usdin, K., and Grabczyk, (2000), "DNA Repeat Expansions and Human Disease," Cell Medical Life Science, v. 57,  pp.914-931.

 

The NSE Standards addressed by these activities include:

Science as Inquiry

  • Scientists usually inquire about how physical, living, or designed systems function. Conceptual principles and knowledge guide scientific inquiries. Historical and current scientific knowledge influence the design and interpretation of investigations and the evaluation of proposed explanations made by other scientists.
     
  • Scientists conduct investigations for a wide variety of reasons. For example, they may wish to discover new aspects of the natural world, explain recently observed phenomena, or test the conclusions of prior investigations or the predictions of current theories.
     
  • Scientists rely on technology to enhance the gathering and manipulation of data. New techniques and tools provide new evidence to guide inquiry and new methods to gather data, thereby contributing to the advance of science. The accuracy and precision of the data, and therefore the quality of the exploration, depends on the technology used.
     
  • Mathematics is essential in scientific inquiry. Mathematical tools and models guide and improve the posing of questions, gathering data, constructing explanations and communicating results.
     
  • Scientific explanations must adhere to criteria such as: a proposed explanation must be logically consistent; it must abide by the rules of evidence; it must be open to questions and possible modification; and it must be based on historical and current scientific knowledge.

Content in Life Science:

  • Cells store and use information to guide their functions. The genetic information stored in DNA is used to direct the synthesis of the thousands of proteins that each cell requires.
     
  • Cell functions are regulated. Regulation occurs both through changes in the activity of the functions performed by proteins and through the selective expression of individual genes. This regulation allows cells to respond to their environment and to control and coordinate cell growth and division.
  • In all organisms, the instructions for specifying the characteristics of the organism are carried in DNA, a large polymer formed from subunits of four kinds (A, G, C, and T). The chemical and structural properties of DNA explain how the genetic information that underlies heredity is both encoded in genes (as a string of molecular "letters") and replicated (by a templating mechanism). Each DNA molecule in a cell forms a single chromosome.
     
  • Most of the cells in a human contain two copies of each of 22 different chromosomes. In addition, there is a pair of chromosomes that determines sex: a female contains two X chromosomes and a male contains one X and one Y chromosome. Transmission of genetic information to offspring occurs through egg and sperm cells that contain only one representative from each chromosome pair. An egg and a sperm unite to form a new individual. The fact that the human body is formed from cells that contain two copies of each chromosome--and therefore two copies of each gene--explains many features of human heredity, such as how variations that are hidden in one generation can be expressed in the next.
  • Changes in DNA (mutations) occur spontaneously at low rates. Some of these changes make no difference to the organism, whereas others can change cells and organisms. Only mutations in germ cells can create the variation that changes an organism's offspring.

Science and Technology

  • Scientists in different disciplines ask different questions, use different methods of investigation, and accept different types of evidence to support their explanations. Many scientific investigations require the contributions of individuals from different disciplines, including engineering. New disciplines of science, such as geophysics and biochemistry often emerge at the interface of two older disciplines.
     
  • Science often advances with the introduction of new technologies. Solving technological problems often results in new scientific knowledge. New technologies often extend the current levels of scientific understanding and introduce new areas of research.
     
  • Creativity, imagination, and a good knowledge base are all required in the work of science and engineering.
     
  • Science and technology are pursued for different purposes. Scientific inquiry is driven by the desire to understand the natural world, and technological design is driven by the need to meet human needs and solve human problems. Technology, by its nature, has a more direct effect on society than science because its purpose is to solve human problems, help humans adapt, and fulfill human aspirations. Technological solutions may create new problems. Science, by its nature, answers questions that may or may not directly influence humans. Sometimes scientific advances challenge people's beliefs and practical explanations concerning various aspects of the world.
     
  • Technological knowledge is often not made public because of patents and the financial potential of the idea or invention. Scientific knowledge is made public through presentations at professional meetings and publications in scientific journals.

Science in Personal and Social Perspective

  • The severity of disease symptoms is dependent on many factors, such as human resistance and the virulence of the disease-producing organism. Many diseases can be prevented, controlled, or cured. Some diseases, such as cancer, result from specific body dysfunctions and cannot be transmitted.
     
  • Families serve basic health needs, especially for young children. Regardless of the family structure, individuals have families that involve a variety of physical, mental, and social relationships that influence the maintenance and improvement of health.

History and Nature of Science

Biological Evolution

  • Species evolve over time. Evolution is the consequence of the interactions of (1) the potential for a species to increase its numbers, (2) the genetic variability of offspring due to mutation and recombination of genes, (3) a finite supply of the resources required for life, and (4) the ensuing selection by the environment of those offspring better able to survive and leave offspring.
     
  • Biological classifications are based on how organisms are related. Organisms are classified into a hierarchy of groups and subgroups based on similarities which reflect their evolutionary relationships. Species is the most fundamental unit of classification.
   
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