By DFK | January 22, 2013 at 09:42 AM EST |
28 comments
I explained to JES, our 'DNA data donator', how I went about getting my DNA tested last year and how I intended to use the data as the basis for an elective course called 'personal genome evaluation'. I knew that if we offered this course again, that we would need a different set of data to look at...so, JES offered his DNA data. We will get to JES's information soon.
As I posted last year and have now 'edited', I now describe what JES did to get his DNA tested.
JES went online, and reviewed the 23andme procedure for providing a DNA sample. He, picked the service and paid via credit card, then waited for the kit to arrive. In about a week, he received the test sample kit and promptly read the directions. Following the directions, JES provided a saliva sample of about 5 mL, a teaspoonful, which took about five minutes of spitting into the tube to obtain this volume. The tube cap had a preservative that automatically mixed with the saliva when the cap is screwed on the tube and the 'snapped' closed. JES inverted the tube a number of times to mix the saliva and preservative. At this point he replaced to first cap with the shipping cap. He placed the capped tube with the saliva sample in the provided zip-lock 'bio-hazard-bag' and placed that into the already addressed return container.
The fact that saliva was used is key to a consumer product. With DNA in every nucleated cell (i.e., cells with a nucleus) of the body I guess it really doesn't matter what sample you provide...I just do not see the public drawing a blood sample and getting white blood cells that way (remember red blood cells won't help here...no DNA)! And, I, and others would struggle supplying a sufficient hair sample!
JES and I discussed the 'point of no return' point, i.e., putting the shipping carton with the saliva sample in the mail. JES did not hesitate at all. He had seen my data and wanted to see his. He would receive information about his physical traits, risk of disease, 'drug sensitivity', and disease carrier status. JES and I discussed his deciding to get his DNA tested and I thought 'go ahead the DNA is there regardless of whether or not you know what is says'. This is the same thing I thought about my own testing last year. So, into the mailbox it went.
It did take about a month for the results to be made available to JES via the 23andme.com website.
We are going to start with the simple things, what JES's DNA states about his physical traits. Take a look at 'About JES'. Check the link on the menu at the left. A question comes to my mind right away: 1. I have seen JES sneeze when he is in the sun light. I don't think it is just the occasional sneeze. Anyhow, look at his trait information and I will add one more here...JES has a lower tendency to overeat...wish I did!
So, to get started just look at JES's traits. I will say that his genetics do not exactly match his expressed traits (phenotype). Why would this be possible? Go ahead and post your thoughts!
I would think that environmental factors could change JES's phenotype so that it does not match exactly what his genotype would suggest.
I suppose that it is understandable that JES's phenotypes do not completely match his genotypes. Take identical twins for example. Even though the genomes of the two twins are identical, you can tell them apart by differences in their outward appearance. Whether this is due to environmental factors, as Jessica pointed out, from different bundling of chromatin, from random mutation, or some other factors is debatable and would probably need further testing to determine.
I thought his results were interesting and how his phenotype did not match his genotype exactly. For example, he has a likelihood of having lactose intolerance, but he does not experience lactose intolerance. Many times a person does not express an intolerance to a food until it has been removed from their diet, and then reintroduced at a later point. My sister went on a diet that removed many food. She found out that she was lactose, chocolate, and corn intolerant.
I certainly agree with Jessica that environment plays a role in gene expression. Other factors that may influence phenotype could be stress, nutrition, or disease.
What you're thinking about is the idea of epigenetics or epigenetic inheritance. Certain environmental factors such as sun exposure, stress, diet, etc. can have a measurable effect on either the phenotype or genotype/DNA of an individual. Perhaps JES has had certain environmental factors exposed to him that allow him to have unmatched genetics in reference to his own phenotype.
I think psychological factors, such as stress, could change JES's phenotype (such as hair color) from what his genotype is.
JES's reactions do not have to match the predicted results. The fact that he is likely to have certain characteristics, means that this is based on previous studies. The fact that he is likely to exhibit particular traits doesn't mean that he has to. There is always the chance that he won't.
Upon reviewing JES's phenotype I found that some of these differences that are present may occur within how he goes about his everyday activities. For example, his muscle endurance may come from the way that he carries out his physical activities in his life. JES's external factors such as family and friends may influence his phenotype as well. Therefore, I would say that the differences could come within JES's lifestyle resulting in a varied phenotype compared to his genotype.
I think that he may have chosen certain things about his phenotype that he enjoys doing more than his genotype would suggest. For example, he stated he is a long distance runner, but his genotype suggests he is a sprinter. The case may truly be that he just enjoys running long distances, rather than sprinting.
Most of the traits state \"likely\", so the traits don't necessarily have to match. It just means in most cases the person should demonstrate the traits.
I know JES has 'typical odds' of having red hair...it would not matter if he had typical odds for brown, black, blonde, or any other color... because he has \"salt and pepper\" hair...just a loss of production of melanin. Actually JES has a lot more \"salt\" than \"pepper\". There is a genetic basis, but it has to due with decreased production of a pigment. There can be environmental causes of graying hair, such as pollutants. ABC News reports that there may be a 'cure':
http://abcnews.go.com/Health/nyu-scientists-find-cure-gray-hair/story?id=13871004
Looking through the other explanations which are family, environmental factors, and lifestyle choices, there are plenty of explanations for look into. That is what we have to understand. Genetics is a relatively new field that there is probably so much that we do not know about to the point that a whole new field of study oculd emerge from it. What I am saying is that the phenotypes that correlate to genotypes are not concrete. There is something that, at the very least, the testers do not know about matching genotypes to phenotypes. Somebody else mentioned that the phenotypes are correlated to certain genotypes based on passed tests. The expression of a physical trait, as we already know, is based on multiple factors. Also, the phenotypes are not absolute, only relative. What it looks like, is that our perception of certain phenotypes to genotypes are incorrect, or the nurture part of the nature, nurture equation is effective to the trait of JES.
I agree with what many other people are saying. It is all about the lifestyle. There are many people that have genetic risks of certain diseases, but depending on their lifestyle choices they may not express these risks physically.
As I read through the comments I feel like I don't have to say anything.
All of the input makes sense and as others mentioned, there are other factors including environmental, other gene, or lifestyle that could cause this differences.
However, I also think that his gene also provide information that he could more likely to be that way if he didn't choose such a lifestyle or is affected by environmental factors.
Like Maria, I agree with the thoughts of many of the other individuals who have left comments. I for one found it very interesting that some of his phenotypes were expressed differently than predicted. I think it is important to note here however that Jess is also performing a home DNA test and he could possibly be falsely identifying his expressed phenotypes. For example, Jess states that he does not sneeze when out in the sunlight but in the first blog it is said that he has been known to do so by other people. Another example could be, how does Jess know that he is a better distance runner than he is a sprinter? How would one measure this difference accurately at home if they were perhaps good at both? Another point to note in this situation, like many people said above, is that lifestyle could have played a part in this phenotype expression. If Jess perhaps trained as a cross country runner in his lifetime, this could have affected the overall result of which type of runner he is.
I agree with what many other people are saying as well. My biology teacher told our class during the genetics chapter that there is no law for genetics, just predictions. JES's results exhibit this. I was surprised to see the lactose intolerance trait being studied. I found it interesting that the results predicted intolerance and JES is not. Like others have said environment and lifestyle are huge influences, this trait especially.
Factors that contribute as to why JES's phenotype does not match his genotype may include span of development, nutrition, and biochemical properties associated with illness. JES could have been born prematurely. There have been studies that found a correlation between possessing a higher chance of contracting certain diseases with premature babies, even in their adulthood. This may have to do with the decreased time the baby had to develop in the womb encompassing the essential nutrients. Outside the womb in the adolescent years, nutrition plays a major role for growth and development. Although JES was to be a sprinter, he may not have been supplied with the proper nutrition to develop to his full potential. It could also be that he simply does not enjoy sprinting even though he is able to do so. Another thought is that illnesses can alter the phenotype. Maybe there is a deeper reason as to why he has a lower tendency to not overeat. Loss of appetite may indicate signs of illness which may lead to alterations in phenotype.
How accurate is this self DNA test, just out of curiosity? I was surprised to find that the results of some of the tested traits did not match up with the expressed phenotypes. Although, like others stated, environmental factors have quite an influence on a person's phenotype. However, the results lactose intolerance trait surprised me the most. Perhaps JES doesn't have enough lactose in his diet to notice the effects of lactose intolerance or the severity of the symptoms is not enough for JES to notice. As far as the photic sneeze reflex, JES could simply falsely attribute his sneezing to something like a seasonal allergy. Also, like others stated, there are many different factors that can be attributed to these phenotypes, and the genotypes themselves are not concrete. I think that everyone's posted information has valuable explanations for these traits.
Lifestyle, as many others have already pointed out, play a huge role in your phenotype. JES's lactose intolerance for example, may not have been noted by him because he's never not had lactose in his system. With this continuing supply, he may have built up a tolerance for lactose, making it unproblematic. His DNA testing also suggests that he has \"slightly curlier hair.\" JES may think his hair is less curlier than his results suggest due to his possible use of damaging hair products or frequency/infrequency of washes that can effect hair texture.
Everything above makes sense- environment, illness, contrasting emotional and physical predispositions, etc. And while these tests are often incredibly accurate in what the genes say, it is we who gave definitions and associations to those genes. Perhaps what is commonly accepted as a gene that determines tendency of hypertension actually determines tendency to stress or affinity to salty foods. While I believe this explanation is more unlikely, I thought it was interesting to consider.
I sort of agree with Jessica about the environment playing a very important factor in JES's phenotype. However other factors could come into play to change the phenotypes such as stress and other things. Many different things can play a roll in this.
I also concur with the statements about JES's environment playing a role in the phenotype. His nutrition and lifestyle choices play a key role in development and the affect it has on his quality of life.
We're living in an exciting age where our understanding of genetics are rapidly advancing, however it's not perfect. Having some genes doesn't necessarily mean you will express the trait. The example that pops into my head is the brca gene. When it was announced this gene correlated to breast cancer women who tested positive took dramatic measure to beat the cancer before it was even there. More research revealed that not everyone with this gene developed breast cancer and not everyone with breast cancer had this genes. I think this example shows how complicated genetics can be and that we need to be careful about assuming a certain gene will cause a certain phenotype. Sometime other genes play a role or environmental factors may be needed to trigger the gene. This could explain why JES's genes don't perfectly match his phenotype.
I think there are environmental factors that are affecting his phenotypes. For example, his genotype is for long distance but he is a sprinter. Through differing types of exercise his body will become accustomed to sprinting rather than the distance.
I think that genetics don't necessarily have to match JES's phenotype. There are certainly other factors that could influence how his traits are expressed. Some of these could be environmental, psychological, or lifestyle factors. For instance, the fact that he says he is a distance runner could be more of lifestyle choice. His genotype may say that his body may be more capable of sprints, but he enjoys distance running more. And if JES has ran distance for the majority of his life, rather than sprints, his body will be more conditioned and capable of running distance than sprints and he will have a higher endurance. How he lives his life and the factors around him will definitely influence how he expresses his traits.
I Think the mismatches between his genetics and expressed traits were likely caused by environmental factors as many students suggested. There could be various things that affect physical traits, such as eating habits, life style. However, I don't think the result shows exactly the relationship between phenotype and genotype. There might be mistakes or errors in the process of experiment.
As mentioned throughout the comments environment and lifestyle choices play a role in some of these traits and can affect them in different ways. We all are at risk for certain genetic disorders/conditions but our lifestyle choice can affect how we physically express/experience these disorders/conditions.
In regard to BRCA mutations (Angela's comment), if you have them, there is approximately 87% chance that you will develop breast cancer in your lifetime. However, the majoity of women with breast cancer do NOT have the BRCA mutations. There are so many factors that will increase the chance of breast cancer development, even though someone does not have the \"hotspots mutations\" in the BRCA genes, such as not breastfeeding your children, not having children at a young age, starting the menstrual cycle in early puberty, obesity, inproper nutrition, not exercising etc. The environment plays a crucial role in turning genes on and off.
You can have a good genotype (no BRCA mutations), and still epress the phenotype and develop breast cancer, as I did (even though I am a health nut who delivered three children in my twenties and breast fed them all).
As they say, with genetics and medicine in general, there is no plain black and white, but all shades of gray and one plus one does not always equal two.
JES is the perfect proof of it!