The Genetic Genealogist

Adding DNA to the Genealogist's Toolbox

Archive for the "DNA for Newbies" Category


Are You Thinking About Genetic Testing?

dna-stock_phixr.JPGIf you’re thinking about jumping into the field of genetic testing (whether for genetic genealogy or any other form of genetic test), you should be sure to do some research first. The results of any genetic test are incredibly personal, and can potentially have a huge impact. As a result, the decision to undergo testing should only be made after doing some vital research.

Luckily, a fellow DNA Network blogger has written a post that will help you do this important pre-testing research. Hsien at Eye on DNA has written “How to Prepare Yourself for a Genetic Test.” Hsien provides the following advice:

“Although you can’t change your DNA, it is possible to prep yourself for a DNA test just as it’s possible to prep yourself for a driving test. It is critically important that anyone undergoing DNA testing learn as much as they can about the results they can expect to receive, the interpretation of these results, and the impact results may have on their life choices.”

She then lists and describes 5 different things you can do to prepare yourself for genetic testing. I highly recommend this post to anyone who is thinking about buying a test.

Another Questionable Article About Genetic Genealogy

I honestly don’t know what to do with this next article. Meredith F. Small Ph.D., an anthropologist at Cornell University, wrote a brief article at LiveScience entitled “DNA Kits: Secrets of Your Past or Scientific Scam?” Dr. Small’s article is largely a comment on the article that appeared earlier this fall in Science, “The Science and Business of Genetic Ancestry Testing” (I provided an analysis of the article here at TGG).

According to Dr. Small:

“[The quest for identity] also leads unwary seekers of the past right into the hands of scam artists who claim they can trace anyone’s DNA back to its source.”

The sentence is extremely misleading:

First – a scam artist is by definition a person who engages in a “fraudulent business scheme.” Although genetic genealogy can be controversial, I’ve never heard a single customer accuse a company of running a scam. To the best of my knowledge, these testing companies are using the best science available to test DNA and compare results to their databases. Are physicians running a scam if they use open-heart surgery to fix a heart, rather than a simple pill that will be invented in 5 years? All technology is based on the best developed science right now. A company might have a limited database or only test a limited number of markers, but this does not qualify them as running a “scam.”

Second – The sentence also implies that genetic genealogy companies promise too much, and that genetic genealogists are unable to decipher the limitations themselves. As my readers might remember I discussed this assumption here. Most genetic genealogists understand and embrace the limitations of genetic genealogy, and also work to help others understand that difference. More can be done, and many are working to make that happen.

Similar sentences include “claims that this analysis will tell you much about where you came from are downright fraudulent, anthropologist Deborah Bolnick of the University of Texas at Austin and 14 co-authors recently reported,” and “Instead of tracing our genetic past, what we get is a scientific scam”

I think one of the major problems of this article is that the author or the editor doesn’t seem to the understand the underlying science. There is a MAJOR difference between autosomal testing and mtDNA or Y-DNA testing. This includes the science behind the test, and the science behind the interpretation of results. For instance, the article includes the following sentence:

“But, [anthropologist Jonathan] Marks points out, these companies are preying on the public because they simply don”t have enough comparative information to pinpoint a gene on a world map.”

For all you genetic genealogy newbies out there, there isn’t a test on the market that attempts to “pinpoint a gene.” Dr. Small fails to establish any line between autosomal testing and mtDNA or Y-DNA testing:

Some autosomal testing does attempt to identify the approximate predominate location of certain DNA markers (SNPs), but genetic genealogy companies do not sequences genes (other than in the full mtDNA test). And contrary to the implication of the article, these companies attempt to give very broad locations, such as “Northern Europe”, or “Asia”, not a specific town or county. Autosomal analysis is based on peer-reviewed science, the best we currently have available. It is true that there will be MUCH better data in 5 years or 10 years, but that doesn’t mean that using today’s science is a “scam.”

As for Y-DNA or mtDNA tests, the results are most often used to place the tested individual’s haplotype into a specific haplogroup. The approximate origin of all haplogroups has been established by peer-reviewed science. There are a few companies that use that haplotype data to identify a potential source of the mtDNA, for example. Again, that identification is based on peer-reviewed science and proprietary databases. Additionally, most genetic genealogists are aware of the limitations.

Perpetuating the mistaken scientific understanding, along comes the most egregious statement in the entire article:

“More insidious, these companies pretend to trace your unique ancestry through mitochondrial DNA, but that’s simply not possible. A few hundred years, a few generations, and every person’s history is a genetic mishmash. One little gene isn’t going to inform anybody about anything.”

It is obvious that Dr. Small either does not understand the underlying science, or is completely glossing over it. For the newbies, mtDNA is passed on almost always completely unchanged from mother to child. Every once in a great great while, that mtDNA changes in a very small way (that is, it gains a mutation). It does not “mishmash” with other mtDNA.

The mtDNA I inherited from my mother was inherited through an unbroken line of women until it ended with me. Employing genetic genealogy, I can trace my “unique ancestry through mitochondrial DNA.” I belong to Haplogroup A, which means that my maternal line crossed the Bering Strait thousands of years ago and settled in Central America. This is not conjecture, and I was not “scammed.” I used peer-reviewed science to come to that conclusion.

Now I confess that the mtDNA test only told me about a TINY percentage of my genetic heritage, but it was an exponential growth of information compared to what I had previously, which was nothing. And note, of course, that assignment of mtDNA into a specific haplogroup is based on single nucleotide markers, NOT on the sequencing of a gene.

The same holds true for Y-DNA testing. Although the markers used for comparative analysis appear to mutate somewhat more rapidly than mtDNA, Y-DNA is still passed largely unchanged from father to son.

And I felt that the concluding paragraph was dismissive:

“If you want to know who you are, look in the mirror. Written on your face is countless generations that have survived to reproduce, and the only thing you can realistically do at this point is thank them and then move forward.”

Genetic genealogy is a valuable part of my life. Although it doesn’t define who I am, it is a part of my identity. Attempting to learn more about myself and my ancestors through my genetic makeup has been a valid and rewarding endeavor. And the current field of genetic genealogy is only at the tip of the iceberg – so far we’ve been looking at a few random SNPs in our genome. Wait until science gets ahold of my entire genome.

P.S. -I will be sure to email Dr. Small about this post, so that she can respond to my criticisms.

A Repost – The $1,000 Genome, Part III

[This is a repost of an article that appeared on May 26, 2007. Since I’m knee-deep in final projects and exams, I thought I’d pull out a popular article from the archives. I hope you enjoy it (again)]:

In Part I and Part II of the “You and the $1000 Genome” series we examined the history of the Archon X PRIZE for Genomics and the success of the International HapMap Project. Today we’ll talk about some of the ethical issues associated with efficient and inexpensive genome sequencing. The value of whole genome sequencing will only be realized if individuals believe they have complete and legal control over their genetic information. I am greatly indebted to a thorough analysis of this issue by John A. Robertson at the University of Texas School of Law (”The $1000 Genome: Ethical and Legal Issues in Whole Genome Sequencing of Individuals (pdf).” 2003 The American Journal of Bioethics 3(3):InFocus). Note that this analysis is not intended to constitute answers to any of the ethical questions – it is only meant to be part of the discourse.

The ethics surrounding the X PRIZE competition has led the Foundation to establish an Ethics Advisory Board to identify issues that may be involved in whole genome sequencing and the conduct of the X PRIZE competition. The goal of the Ethics Advisory Board is to not only “comply with existing ethical and legal standards, but to promote public dialogue about some of the more controversial ethical, legal, and social implications of emerging genomic technology and to actively participate in setting standards for the future use of these technologies in research and clinical care.”

Ownership of DNA and Sequencing:
It is probably obvious that a person has almost total control over their own DNA as long as it is attached to their body. However, all day long we are continuously shedding our DNA into our surroundings, leading to the more difficult question; who owns DNA once it has left the body? If I find DNA on the sidewalk (such as a cigarette, a coffee cup, a piece of hair), does it belong to me or does it belong to the ‘shedder’? This was one facet of a recent New York Times article addressing the extreme tactics that some genetic genealogists have employed to obtain DNA from (potential) family members (”Stalking Stranger’s DNA to Fill in the Family Tree” 2 April 2007, Amy Harmon). Since DNA contains information that can be used to specifically identify a person, should we have total and complete control over our DNA unless we knowingly waive that right?

Informed Consent:
It goes without saying that written informed consent is a vital component of genomic sequencing. Consent is necessary for sequencing, interpretation, and any eventual research. Unique to genomic sequencing and interpretation, however, is the potential for emotional and psychological distress. There are always risks involved with discovering the information contained within our own genomes. As a result, entities, especially commercial enterprises, will have to delicately balance protecting their clients from the emotional consequences of genomic sequencing with protecting themselves from liability. This will necessitate educating their clients of the potential risks of sequencing and interpretation while obtaining legally sufficient informed consent.

The X PRIZE Foundation has directed that the “Genome 100″, the 100 volunteers who will contribute DNA to the sequencing competition, must give fully informed consent. Members of the Genome 100 (who will theoretically remain anonymous) will also be asked if they would be willing to contribute their results to a database that will be accessible to others.

The HapMap Project is also concerned about informed consent and has even provided an example of the consent form that they used when obtaining samples for the Project. According to the Project, “[e]ach of the DNA donors gave individual consent to participate in the Project and signed a consent form that grants permission for the DNA samples to be used in future studies approved by relevant ethics committees.” Interestingly, the Project also used teams of geneticists and ethicists to work in the communities to discuss the issues and educate the public about the science of the HapMap Project. Although the process was different in each country, “it involved a combination of individual interviews, focus group discussions, community meetings, and public surveys… and …created a climate in which research could proceed in an atmosphere of greater openness and trust.” This might be a good model for companies engaging in whole genome sequencing and/or genome interpretation.

Risks and Genetic Counseling:
There are numerous risks involved in whole genome sequencing and interpretation, including the discovery of medical and/or behavioral disorders, both present and future. These risks should be addressed by both informed consent (to warn customers of potential dangers) and genetic counselors (to help customers deal with the results of sequencing). The UCSC Genome Bioinformatics Group, for instance, has strongly supported the efforts of the National Human Genome Research Institute to train individuals to provide professional genetic counseling.

Storage:
How should samples be used once the DNA has been sequenced? Should they be stored or should they be destroyed? This will undoubtedly be an issue requiring informed consent.

Perhaps more importantly, how should results be stored? It is vital that results be protected from unlawful detection or use under any circumstances. Online storage will require advanced theft protection measures. Results shared in hard copy, such as via DVD, should also be strongly protected to avoid theft (a whole new type of identity theft). According to the X PRIZE Foundation, “[a]ll data generated as part of the X PRIZE competition will be stored in secure databases. The X PRIZE Foundation encourages continued research into creative and secure database structures.”

Discrimination:
Almost everyone would argue that discrimination on the basis of genetic information is not an acceptable use of genomic sequencing. Although there is no federal prohibition of this type of discrimination, many states have their own laws that prevent genetic information discrimination. And it appears that the federal government will soon pass the Genetic Information Nondiscrimination Act (See “GINA, A Primer“) to create an extensive nationwide prohibition of discrimination on the basis of genetic information.

Sequencing the Genomes of Minors:
Minors often have little choice in their medical treatment because that duty is carried out by their parents or legal guardians. But should parents have the right to sequence their children’s genomes? How about the genomes of embryos that are not implanted? What if there is a medical necessity? Perhaps sequencing in those situations should be limited to only those regions that are involved in the medical situation at hand.

The “Geneticization” of Society:
In his article, Mr. Robertson coins the phrase “geneticization of society” to address the concern that our genetic information will come to represent our identities. In our society, a person is ideally represented by their goals and achievements, not by their genetic information. Unfortunately, just as people are judged by their physical appearance in today’s society, there is the danger that people will be judged by their genetic identity in tomorrow’s society. Are we limited by our genetic information, or are we more than our own genome? In my opinion, our identity is what we make it, not a sequence of A,T,C, and G’s.

While researching the ethics of the $1000 Genome, I came across a terrific quote at (Genetic Engineering & biotechnology News) by Chad Nusbaum, Ph.D., co-director of the genome sequencing and analysis program at the Broad Institute: “Science is moving way ahead of the ethics. We can’t stop the technological advancements but the gap keeps widening. It is our responsibility to understand the implications of our work and educate the public and elected officials so that a proper dialog can take place.”

Other Posts in the Series:
You and the $1000 Genome – Part I: The Archon X PRIZE for Genomics
You and the $1000 Genome – Part II: The International HapMap Project

A Repost – The $1,000 Genome, Part II

[This is a repost of an article that appeared on May 24, 2007. Since I’m knee-deep in final projects and exams, I thought I’d pull out a popular article from the archives. I hope you enjoy it (again)]:

In Part I of the “You and the $1000 Genome” series we examined the Archon X PRIZE for Genomics, a $10 million purse for the group that can sequence 100 genomes in 10 days for no more than $10,000/genome with an error rate below 0.001%. With today’s technology this goal is still a few years away.

But do we need an entire genomic sequence to obtain all the relevant medical information that our DNA contains? After all, 99.9% of my DNA is exactly the same as everyone else’s! Why sequence that 99.9% over and over and over if the results are the same every time? Wouldn’t it be cheaper to just sequence and then decode the 0.1%?

Sequencing that 0.1% is the goal of the International HapMap Project. HapMap stands for “Haplotype Map”, and those of you who are genetic genealogists will instantly recognize the importance of the word haplotype. The goal of the HapMap Project, begun in 2002, is to identify SNP groups (haplotypes) from a total of 270 individuals representing the Yoruba people of Nigeria, the Han Chinese in Beijing, the Japanese, and U.S. residents with northern and western European ancestry. The HapMap is essentially a catalog of all the common genetic variants in human beings.

Phase I of the HapMap project, which is complete, identified 1 million SNPs in the human genome. SNPs are “single nucleotide polymorphisms”, a single variation in the genetic code. According to some scientists, 1 million SNPs is about 10% of the total SNPs in the human genome. Interestingly, the results of Phase I of the HapMap suggested that SNPs tend to cluster together at certain locations and may be passed onto the next generation in groups. For many regions of our DNA there are only a few different haplotypes in most humans, and researchers can identify these haplotypes using just a few single SNPs. As a result, a single person’s genotype (collection of haplotypes) can be created by sequencing as few as 300,000 to 600,000 SNPs. For a recent review of Phase I of the HapMap Project, read this 2005 article in PLoS Genetics.

Phase II of the HapMap Project identified close to 2.5 million SNPs using the same 270 samples. Although data acquisition for Phase II has been completed, analysis is still continuing.

As the HapMap data becomes available, researchers can use it to identify genes and SNPs that are involved in disease. If most people with colon cancer share a certain haplotype, researchers can use that information to identify the genes involved and doctors can use that information to predict who might be susceptible to colon cancer long before the disease develops. I’ve previously written about two studies using information from the HapMap to identify a locus associated with diabetes and prostate cancer.

So with the huge success of the HapMap Project, do we really need genome sequencing? Some would argue that haplotyping is not sufficient, especially when a genetic disease is found at very low frequencies in the population. According to Jonathan Rothberg, the founder and chairman of 454 Life Sciences, “genotyping rests on the hypothesis that common alleles contribute to common diseases. What if very uncommon alleles contribute to common diseases? Only deep sequencing would be able to answer this question. The deeper the sequencing, the less frequent variant you can find. You need deep coverage to ensure the statistical likelihood of finding rare mutations.” Indeed, some mutations are so rare that they are only found within specific families or populations. If these families aren’t part of the HapMap Project, there is the potential that their personal SNPs won’t be identified.

Despite the concerns, there is little doubt that the HapMap Project is a valuable contribution to the field of personalized medicine. It has already produced results that will further our understanding of the genetic component of diseases such as diabetes and prostate cancer. While HapMap sequencing has limitations that differentiate it from whole-genome sequencing, it is a much cheaper and immensely useful tool for scientists and medical specialists.

Genetic Genealogy at the BBC

Megan Smolenyak of Roots Television (have you checked it out yet?) and Megan’s Roots World recently wrote a piece for the BBC’s Family History website, in association with their wildly popular Who Do You Think You Are? series.  “Genetic Genealogy – What Can If Offer?” is a great article for anyone who might be interested in learning about the opportunities and limitations associated with genetic genealogy.

And, you might see a familiar blog mentioned in the “Find Out More” section!

A List of Books for the Genetic Genealogist

A lot of people write me to ask me questions about genetic genealogy, and a few have asked if there are any books on the subject that might help them learn more about it.  I thought I should provide a list of great reading material to help someone who might not have time to ask (but keep the questions coming!).

Great beginner books which are specifically about genealogy and DNA:

Trace Your Roots with DNA: Use Your DNA to Complete Your Family Tree by Megan Smolenyak and Ann Turner (Published October 7, 2004):

The Seven Daughters of Eve: The Science That Reveals Our Genetic Ancestry by Bryan Sykes (Published July 9, 2001):

How to Interpret Your DNA Test Results for Family History & Ancestry: Scientists Speak Out on Genealogy Joining Genetics by Anne Hart (Published December 2002):

How to DNA Test Our Family Relationships by Terrence Carmichael and Alexander Kuklin (Published December 1, 2000):

DNA & Genealogy by Colleen Fitzpatrick, Ph.D. (Published November 30, 2005):

Genetic Genealogy DNA Testing Dictionary by Charles F. Kerchner, Jr., P.E., available at http://www.kerchner.com/books/ggdictionary.htm.

The more scientific books:

Forensic DNA Typing, Second Edition: Biology, Technology, and Genetics of STR Markers by John M. Butler (Published Feb 22, 2005):

Forensic Genealogy by Colleen, Ph.D. Fitzpatrick (Published June 30, 2005):

Beyond Genetics: The User’s Guide to DNA by Glenn Mcgee (Published November 9, 2004):

Reflections of Our Past: How Human History is Revealed in Our Genes by John H. Relethford (Published May 6, 2003):

Adam’s Curse: The Science That Reveals Our Genetic Destiny by Bryan Sykes (Published May 2005):

Deep Ancestry: Inside the Genographic Project by Spencer Wells (Published November 21, 2006):

The Journey of Man: A Genetic Odyssey by Spencer Wells (Published February 17, 2004):

Unlocking Your Genetic History: A Step-by-Step Guide to Discovering Your Family’s Medical and Genetic Heritage (National Geneological Society Guide, 6) by Thomas H. Shawker (Published August 11, 2004):

The Origins of the British: A Genetic Detective Story by Stephen Oppenheimer (Published October 2006):

Saxons, Vikings, and Celts: The Genetic Roots of Britain and Ireland by Bryan Sykes (Published December 11, 2006):

Dr. Kirk M. Maxey Shares his Expertise with Members of the DNA-NEWBIE Mailing List

The DNA-NEWBIE mailing list is a great resource for people who are new to genetic genealogy or genetic testing in general. The list provides a forum for questions while promoting education and the sharing of ideas. I primarily use the mailing list to follow current trends or concerns in the field of genetic genealogy so that I can share them here on the blog.

The recent deluge of media attention regarding J. Craig Venter’s diploid genome sequencing prompted one list-member to quote Dr. Edward Rubin: “It’s not clear whether it’ll be 10 years or 50 years, but in our lifetime, [individual DNA sequencing ] will happen.” The list-member goes on to say that it will probably not happen in his lifetime since he turns 75 next month.

Interestingly, the list-member’s statement is addressed by Dr. Kirk Maxey, one of the Personal Genome Project’s “First 10.” Dr. Maxey asserts:

“Don’t bet your whole paycheck on it. Ten people, including me, have signed on with Harvard University gene sequencing Professor George Church to have our entire diploid genomes sequenced. More than that – we will be posting them on the internet for all the world to view. And it should all be finished – before Christmas.”

“For all its complexity, a map of any particular human genome is not really that interesting unless you can also say, “And here is who/what you get from such a blueprint…”.”

“All of the promise of genomics research, the personalized medicine and all the other things, will not be possible unless people are willing to simply bare their genes the same way they are already baring their faces. You are who you are.”

Dr. Maxey makes two great points – we have a long way to go before genomic sequencing provides an appreciable amount of useful information, and we will only obtain that information thanks to the courage of people who are willing to “bare their genes.”

Another list-member asks Dr. Maxey if he knows his Y-DNA haplogroup yet. He responds:

“I am I1a, although this data came from CaBRI and not from the Harvard PGP project. Actually, the full sequencing project is concentrating on disease-associated alleles first. They are not interested in tracing ancestry, but more involved with linking your precise medical and health history to your gene complement.” [Note that I added the hyperlinks for more information - TGG]

And finally, a third list-member asks if the PGP is accepting others for its scale-up, and how he might go about applying. Dr. Maxey writes:

“There is a great deal of discussion now ongoing, not so much about whether to expand the project and get more volunteers, but more about how. I think that they are waiting to see a bit more how this impacts the lives of the first 10 so that they can provide good informed consent to the new ones. It is not something to be taken lightly. Every gene that is reported carries some consequence, especially those that are supposed to predispose one to insanity, early death, etc. It is one impact to know about this yourself, and a completely different one to have your employer and your neighbors looking them up too.”

I think it’s great that Dr. Maxey is participating in the DNA mailing list community and sharing his insight and expertise with these DNA-newbies. This type of sharing and conversation is precisely what is needed to promote the goals of personalized medicine while eliminating fear through education.

I hope to see other members of the PGP mingling with members of the genetic genealogy community. In my opinion, genetic genealogists represent a unique community that should be embraced by the personalized genetics movement. Indeed, genetic genealogists are one of the very few groups of private citizens outside the scientific community who are at the forefront of DNA sequencing and interpretation. They will also undoubtedly be some of the first to explore personalized medicine and whole-genome sequencing.

P.S. – I did check with Dr. Maxey before publishing this interaction, and he thought it was a great idea. I’d like to thank Dr. Maxey again for interacting with the genetic genealogy community.

Y-STR Conversions

The results of a Y-DNA test are either a string of plusses and minuses, or a series of numbers. The plusses and minuses are the result of a SNP (single-nucleotide polymorphism) test and denote the testee’s Haplogroup, while the string of numbers are the result of a STR (short tandem repeat) test and denote the testee’s haplotype.

To learn more one’s haplotype, or to compare it to other’s results, most people enter those results into a database such as Ysearch, Ybase, SMGF, YHRD, or the Y-STR Database. To do this, however, it is sometimes necessary to ‘normalize’ the numbers. For instance, one testing company might find a result of 27 for DYS481 while another finds a result of 23 on the same individual. This is typically due to different sequencing primers used by each company to characterize each particular STR.

Thanks to a post on the DNA-NEWBIE mailing list (if you are interested in genetic genealogy and not yet a member of this mailing list, you can sign up here), I learned of a spreadsheet that contains conversion numbers for many of the genetic genealogy testing companies:

“For you to be able to derive meaning from your results, you need to compare them to others’ results. Jim Pearsall, a genetic genealogist who has been tested by several DNA companies…compiled the following table of adjustments based on the reports provided to him by the companies.”

 

You can use this chart to convert the markers from one company into the nomenclature of a second company. There is more information about STR conversions at Ysearch and at Ybase.

HT: Justin Ryan posted the link to Mr. Pearsall’s conversion document to the DNA-NEWBIE mailing list.

Gene Genie #13: Into the Future

gene_genie_logo_4002.jpg

 

Welcome to edition #13 of the Gene Genie. There were many interesting and exciting submissions for this issue, so I hope you do a little exploring and learn something new about genes, personal genetics, and personalized medicine.

Splicing Genes. Let’s start off with something fun. I don’t know if we’ll ever try to splice our genes with those from famous or successful people, but here’s at least one conversation that might result!

With new genetic discoveries being announced every day, how does one keep up-to-date? Well, luckily we have a few helpful suggestions from our fellow bloggers. Scienceroll gives us 7 Tips: How to be up-to-date in genetics/genomics? And Clinical Cases and Images – Blog adds to the discussion with 6 Tips on Staying Up-to-Date in Genetics (and Any Specialty).

Genetically Naked? Berci at Scienceroll wrote a wonderful overview of the Personal Genome Project and gathers together many of the recent discussions about the Project. Reading the post, we are reminded of what a monumental risk and loss of privacy the First 10 are undertaking.

If you’ve ever sat and thought about Personal Genetics, and you know you have, you’ve probably asked yourself how in the world all the information can be presented to an individual in a useful way. For instance, if my genome contains some gene variant that has been associated with cancer, how worried should I be? Jason Bobe at The Personal Genome has a few suggestions at Richter Scale and Your Genomic Portfolio.

Personalized medicine takes a (tiny) step forward. David Hamilton at VentureBeat discusses the FDA approval of Selzentry, a new AIDS drug from Pfizer. The drug, however, only works against a particular sub-strain of HIV which binds to a T-cell surface protein called CCR5. Most HIV strains use CXCR4 or a combination of the two. So, not only will OUR genomes be important for personalized medicine, so will the genomes of every pathogen that has infected us. David also discusses a new drug aimed at increasing HIV replication in Koronis: Mutating HIV into extinction.

An Alzheimer-related gene? Sudip Ghosh at GNIF Brain Blogger discusses a study in Lancet that suggests that the presence of ApoE4 leads to having a thinner entorhinal cortex, which might predispose carriers to neurodegenerative disorders (including Alzheimer’s disease). Interestingly, the results are based on imaging of the brains of 239 children and adolescents.

Gene Increases Emotional Memory Recall. FuturePundit points to a recent study which suggests that a genetic variant of ADRA2B, a receptor that binds the neurotransmitter of noradrenaline, may increase the carrier’s ability to remember emotional memories. The variant was present in 12% of people with African ancestry, and in 30% of Caucasians. Neurophilosophy gives a description of the very interesting tests the researchers used to arrive at their conclusions in The neurogenetics of traumatic memories.

HERVs and Multiple Sclerosis, part 2. CAD provides an in-depth analysis of a new paper that is the first study to make a really strong case for the involvement of endogenous retrovirus in human disease – in this case, multiple sclerosis. Expression of Syncytin-1, a gene derived from a human endogenous retrovirus, appears to lead to damage of the myelin coating of nerve fibers.

I have a two-year-old son, and lately I’ve been noticing that he strongly favors his left hand. Penny, the new blogger at Genetics and Health, highlights the discovery of the gene LRRTM1 in Gene for left-handedness is found. Medgaget provides more information on the study in The Leftie Gene.

Newborn Genetic Screening vs Right to Privacy. As we learn about the relationship between our genome and disease, we will be able to screen for inherited predispositions. As Hsien reports, every year about 5,000 infants in the U.S. are diagnosed with a congenital disorder while an additional 1,000 children go undetected because genetic screening isn’t routine or incomplete in their state. However, genetic screening of newborns raises its own ethical questions.

Ethical and Legal Issues Surrounding Large-Scale Genomic Databases. As the genetic future gets closer and closer, the ethical, social, and legal dilemmas will become more real and more pressing. I recently discussed a great review article by Professor Henry T. Greely at Stanford Law which discussed a few of the challenges facing genomic biobanks.

And finally, for a little good advice to start the week, Alvaro at Sharpbrains suggests that you Exercise Your Brain! Enjoy Learning!

Issue #14 of the Gene Genie will be at MicrobiologyBytes on August 26th. You can always submit your blog article for the next edition at the carnival submission form. Past posts and future hosts can be found on the blog carnival index page.

Mitochondrial Eve and Y-chromosomal Adam

In the past decade, scientists have repeatedly referred to ‘Mitochondrial Eve‘, the (hypothesized) source of mtDNA for all humans alive today.  She is believed to have lived approximately 140,000 years ago in Africa.  There is also ‘Y-chromosomal Adam‘, the (hypothesized) source of every living man’s Y-DNA.  He is also believed to have lived in Africa, but more recently, between 60,000 and 90,000 years ago.  Thus, Mitochondrial Eve and Y-chromsomal Adam were not a couple – they were not the source of all human genetic material on the planet today.  Instead, the terms refer to the founders of all the mtDNA and Y-DNA respectively.

For a wonderful description of some of the genetic behind Mitochondrial Eve and Y-chromsomal Adam, go to “The Questionable Authority“, a blog which is part of Scienceblogs.  While you’re there, be sure to read the comments, where the discussion addresses the time disparity between the two DNA sources (140,000 years ago versus 60-90,000 years ago).