For a number of years, people who think about all sorts of human characteristics -- from eye color to behavior to severe diseases to people interacting with other people -- have put the two variables of genetics and environment in apposition or contrast to each other....nature vs. nurture. The more we learn about each of these factors, the less productive taking a "versus" approach seems to be; instead, by asking "to what extent do each of these play a role" seems to lead us to more insights.

This is not to say that all of life and its wonders are explainable by these two factors; geez, I hope not. But this is, hopefully, a way to look at some of the interesting aspects of our lives in a way that makes some of the complexities manageable.

Throughout this study, the relationship among genes, environment, and characteristics or health, described above, is captured with the simple equation:

• p = phenotype (scroll down this glossary page for a definition)
• g = genotype
• e = environmental contribution; and
• ge = interaction of genotype and environment.

I've laid out a series of activities for you to work through, each one hopefully adding information, practice with thinking about the interaction of genes and environment, and to your development of the competency. Each activity will require some research. In some cases there will be links to other web pages; others will require "conversations" with books, articles, and/or folks knowledgeable in the area.

You should purchase a copy of Nature and Nurture, the details of which are described on the Resource page; I''ve also linked you to a web page of books that your library or local major bookstore should have (at least many of them). Using internet search engines, databases & sources at DePaul's or local library, and other RESOURCES should be helpful as well as provide you with some experience in using these reference sources. I suspect you may want to become well acquainted with the reference librarians at DePaul's libraries or your local library.

At any point and with any questions for any purpose, please get in touch with me; learning independently doesn't meaning working alone.

• Identify 2 traits or characteristics you believe are only the product of environmental factors. Why do you believe this to be the case for each?
• Identify 2 traits or characteristics you believe are only the outcome of genetic or hereditary processes. Why do you believe this to be the case for each?

Activity Two

On every package of Nutrasweet ("Equal"), there is a notice that the product contains phenylalanine. This is of concern to people with phenylketonuria (PKU).

Why? What is phenylketonuria and how is it an example of the interaction of genes and environment?

....and if you're interested in learning more about PKU.

email.

Activity Three

Smoking has been demonstrated for many years to be dangerous to our health. Not everybody who smokes, however, develops lung cancer or other problems associated with smoking. The reasons for this are not clear but there are some ideas as to why not.

An article in the New York Times on May 23, 1995 entitled "Molecular tools may offer clues to reducing risks of birth defects" will help you to get a picture of how some researchers are thinking about this and similar questions. This article may seem complex but read it through and send me some ideas as to why there may be differences among us in how we respond or are affected by aspects of the environment such as smoking.

email.

Activity Four

Read the following sections of Nature via Nurture (Ridley; see the Resources page for details and comments on the it):

• Chapter 1;
• Chapter 5;
• Chapter 6… 1st page and if it gets your attention, read on;
• Chapter 8
• Chapter 10.

Please pay particular attention to the kinds of observations, experiments and open-minded insights needed to account for what investigators are seeing and trying to figure out. You will encounter many terms and references to 'things technical' -- there is no expectation that you learn and retain the names and functions of 'this gene' or 'that gene' (trust that!)... unless you find such information interesting and of value. It's the ideas here throughout the chapters that are important. If you have questions about where you should be spending your reading and thought time, please get in touch.

Make note of:

• questions or confusions; pass them along and I'll help sort them out;
• how the author defines the various kinds of interactions between the environment and our genes
• possible ideas for your research essay.

The ideas in the book range from the basic to rather complex although I believe it is written in fairly "readable" manner. I would appreciate any coments on the book as I am always looking for better readings that can help you along.

The author occasionally assumes some knowledge about genetics and biology that you may not be familiar with -- Don't expect yourself to 'get it' all and I won't expect it either. The ideas and the ways Ridley describes how he and you might think about how the genes and the environment interact are applicable to all traits and these are the ideas that I hope you become comfortable with as you develop this competence.

* Has what you've learned thus far confirmed or altered your ideas about the interaction of heredity and environment? In what ways? Please send your responses to these questions to me....email. If you have some possibilities for your research essay, let's start to discuss them as well.

Activity Five

It has been realized for a while that not everyone exposed, even repeatedly to HIV becomes infected with the virus or develops AIDS. There is a review in Discovermagazine, June 1997 that may provide a genetic explanation for this. What does that report say, citing your source(s), and framing your answer in terms of p = g + e + ge. Also, here's a recent update. (submit)

Reading: Chapter 4 (Ridley)... Madness of Causes

Activity Six

The details of the ways in which genes 'work' and make their contributions have not been emphasized thus far nor are expected to be highly knowledgeable about them for our purposes in practicing and developing this competence. However, having an image & working knowledge of the terminology and what it refers to is important for taking the terms 'genetics' and 'genes' and 'genome' out of the abstract and at least into the invisible (lol).

Below is a list of terms that should have some meaning to you -- most are linked to an explanatory page; you might also check the glossaries listed on the resource page, the index of Ridley's book OR this really good booklet from the Genomics Program that your/our tax dollars have been paying for.... Genomics and Its Impact on Science and Society: The Human Genome Project and Beyond. (pdf file). This can also be downloaded as a PowerPoint set of slides (see the Resources page for the link). And finally, there's some animated and other visualizations of 'things genetic' at: Learn.Genetics.

Gene Expression -- a diagrammatic overview with labels

• recessive inheritance
• dominant inheritance
• heterozygote
• homozygote
• DNA (and its functions)
• polygenic (or multifactorial) inheritance
• X-linked inheritance
• twin studies (& their purposes)... Chapter 3, Ridley
• adoption studies (& their purposes) ... Chapter 3, Ridley
• mRNA
• protein
• environment

General overview of the components of the genome (recommended by previous students): http://ghr.nlm.nih.gov/handbook/hwgeneswork/protein

Also -- if you haven't already been considering possible questions or areas for your research essay... it's time. Almost anything is fair game and, in my experience, almost everything I could imagine has been explored as part of this independent study. Good topics are the intersection of three considerations: 1) something of interest and curiosity to you; 2) something that lends itself to analysis through the lens of the competence; and 3) something for which there has been at least some research done so that you have a literature base to work from. I urge you to pick a topic or area that you care about or, at least, have some interest in. Start bouncing ideas off of ....me.

Activity Seven

Pick one of the following to look into....limit your submission to a 1 page summary of what you learn (& the sources you used):

1. Why do some fetuses when exposed to a drug or chemical or infection develop a birth defect(s) and others, exposed to the same drug or chemical or infection, do not? (as part of this define: teratogen).

2. King George III was the British monarch at the time of the American revolution. Many of the decisions that he made regarding how the colonists should be treated were considered irrational even in his day and historians tell us that he experienced intermittent episodes of pyschotic behavior. by examining diaries an interesting picture of genetic and environmental influences on George's life has emerged. What were the critical elements of this picture? You might try here as a place to start... and here is a site from Washington University in St Louis if you are inclined to medical details...

3. "Every body needs milk." Even though the billboards tell us so, the importance and impact of this food varies from individual to individual. Why? Moooo 1...or Mooo 2...

email.

Activity Eight

Pick either a. or b. to work with (these are a little longer to read):

a. One of the strategies to determine of a phenotype may have a genetic component is to see if the trait or characteristic is more common in 1st degree relatives (brothers, sisters, parents, children) than in the general population. For example, in a study of 219 first and second year medical students, the frequency of 1st degree relatives (over 18) attending medical school was 13%. This is compared to 0.22% of people in the general population who attend medical school. Thus, the "risk" for attending medical school was found to be 61 times higher in close relatives of medical school attendees than someone picked at random from the general population.

This provides strong evidence that attending medical school is a familial trait (i.e., varies in frequency from family to family). Furthermore, examination of the family patterns of attending medical school also suggested that the data was consistent with this "trait" being controlled by a recessive gene.

Clearly, it is unlikely that the decision to attend medical school is genetically controlled by a single gene. There may be interactions of genetic and environmental influences.

What do you hypothesize are the nature of these influences drawing on the basic p,g, and e equation? What is the lesson(s) of this study? What would you propose as further studies?

b. Body weight is the outcome of several factors interacting. Studies of twins have shown that there is a high correlation between identical twins for being obse. Other studies have shown that body mass i very influenced by hereditary factors as well. Body weight seems to be an example of polygenic inheritance -- several or many genes interacting to prdouce a range of body weights among people. Polygenic traits, and there are many of them, are also very influenced by environmental factors.

Using body mass as an example, describe what you believe to be some of the environmental factors that contribute to an individual's weight and assign proportions to g and e in the p=g+e+ge equation; you might start by asking yourself if you believe that genetic factors are greater or less than 50% of the variation in body mass for most individuals). NOW....

...find research studies that have looked at this question. Discover magazine published piece in the May 2000 issue on this subject... you might try here as a start.

What methods to studying this question are researchers using? Is there a consensus or trend in the thinking as to what proportion of variation among people in body mass is due to genetics and environmental factors?

READING: RIDLEY... Chapter 3: A Convenient Jingle

email.

Activity Nine

Below is a diagram that describes the steps from DNA to phenotype...the intervening steps reflect the various levels of our biology that are involved; there are many intervening steps between genes and a trait or characteristic and so the diagram is simplified. The important things to recognize in this are that:

• variation from individual to individual can occur at any step along the way,
• the various levels can interact with each other,
• there are thousands of processes like this occuring every moment of our lives, and
• aspects of the environment can influence and interact at any level and in a variety of ways.

TAKING IT ALL TO ANOTHER LEVEL...

Purpose... an activity to look even further into the complexity of gene and environment interaction

[This activity is several pieces to it... and it, hopefully, takes where we've been in the study to the most current chapters in the evolving story. I urge you to give this activity some time and room to 'cook.']

If you have brothers and/or sisters, think about the varieties of ways in which you and they are similar and different.
a. What are some of these similarities and differences?
b. What have you attributed these similarities and differences to?
c. How would you apply what you've learned about the interplay between genes and environment to interpret these similarities or differences?
d. "Nature-Nurture Integration" by Michael Rutter in the journal American Psychologist, volume 52, pages 390-398, 1997... This article focuses on work done in the area of antisocial behavior; however, the ideas are powerful to help understand a variety of aspects of human behavior and experiences. These ideas are somewhat complex and abstract but given the background you've developed thus far, they should make sense.

e. How do the ideas expressed by Rutter help you to further understand the differences or similarities you described in parts a.,b., and c. above?

f. A good deal of what we've been working with has been in the 'mindset' of "genes + environment" - in some way and in differing proportions - resulting in the characteristics, traits, aspects of who are we are. The thrust of current research is to take our thinking beyond the simple additive aspects of these two major influences into the real meaning of what 'interaction' can does look like.

This is not a simple task... it means we have to change our thinking from looking for direct 'cause --> effect' relationships and think more in terms of what is the probability, the likelihood, of something be the way it is given our best 'take' at what aspects of the environment and what aspects of our biology are coming together and interacting with each other to produce something that is different than simply 1 + 1 or 'g' + 'e.' It also means that we have to be ready to see the unexpected and be even more careful to not just see what we expect to see.

This article - "Autism: It's Not Just in the Head" is not just about autism - although it's certainly an interesting piece on this condition - it is an example, among many, of what being open and curious about 'interaction' can offer to our understanding of ourselves if we are careful about our assumptions. And this set of interviews and slides from NOVA - The Ghost in Your Genes - [or transcript] continues to flesh out in some dramatic ways where we are and what insights the future may offer us.

Similarly, this piece (scroll down about halfway for the beginning) by a group from New Zealand (Avashalom Caspi and colleagues) who asked a question about depression in a way that allowed them to look at many of the things we've been working with here -- variation from person to person, individual differences, assessing the impact of environments on health, the relative roles of genes and environment. Instead of asking, "what causes depression," they changed the question to, "Why do some of us react to life's stresses with depression.. and some of us don't." They work they did has become a model for studying some of the things we've been grappling with. It is published in the journal in SCIENCE and thus has many technical aspects that you may not be familiar, but students have told me that the introduction and discussion, toward the end, of the piece are very accessible reading.

And from the August 9, 2008 issue of Newsweek.. "But I Did Everything Right"

• After reading these three pieces, please return to e) (above) and revisit, add to your comments in light of what you've taken from these articles. As you do, recall some of the themes that have woven through this study...
  * Individual differences -- how do we describe them? what contributes to them?
  * How we ask the questions leads to the kind of information and data we will get.. about such things as genetic and environmental influences.
  * When we look for environmental and genetic contributions to variation amongst us, it's turning out we're more likely find to both.

How do the ideas expressed by Rutter, Niemark, Caspi et al, and the piece in Newsweek help you to further understand the differences or similarities you described in parts a.,b., and c. above?What is now getting your attention about the idea of 'interaction?'

If you haven't already submitted your RESEARCH ESSAY and or pinned down arrangements with me for wrapping up your work....NOW IS THE TIME DO SO.
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Activity Ten

• Go back to Activity One -- do you see or understand the characteristics you selected any differently? If so, in what ways?
• What differences, if any, has developing the E-1 competency and doing this study made in how you view yourself and others?
• Finally, if you have any ideas that you think may help in the design of this FDIS and would benefit future students, please pass them along to me if you haven't already.

READING: RIDLEY... Chapter 10: pp 249-275 (A Budget of Paradoxical Morals)

email.

...to LEARNING ACTIVITIES for E-2