Genetics

This was one of my Half-Price Books finds that had been gathering dust in my to be read pile for several years. I had tried reading it once, got bored, and put it away. But when I picked it up at the end of the semester, I really couldn’t put it down.

The Lost King of France tells the story of the son of Louis XVI and Marie-Antoinette, Louis-Charles, who was imprisoned in the Temple along with his parents and older sister during the Revolution. The tale is similar to what happened to the Romanovs in Russia at the turn of the 20th Century, but was one I had never heard. I knew, of course, that King Louis XVI and Marie-Antoinette had been beheaded by Robspierre’s government, but not that their children remained imprisoned for years after their parents’ deaths.

Their daughter, Marie-Therese, was released (and exiled) in 1795, but her brother had been secluded years before, and rumors ran riot that he had been smuggled safely out of the Temple. As with the Romanovs, there were pretenders to the throne, which Marie-Therese never openly acknowledged, due in part to the official record stating that the dauphin had died in the Temple in 1795. But no one was really sure what had happened to him. That is, until 2000, when geneticists analyzed a tissue sample from a child’s heart, reportedly taken from the Orphan in the Tower during the autopsy by the attending physician.

This was a great read, engaging, and combining two of my favorite subjects, history and genetics. Better still, it demonstrates how genetic analysis can be used to answer historical questions, unequivocally.

PLoS ONE has a article this month titled The Phylogeny of the Four Pan-American mtDNA Haplogroups: Implications for Evolutionary and Disease Studies. There are several points of interest:

1. The authors make use of data that is publicly available, either through GenBank or other DNA databases.
2. Complete mtDNA sequences (ie., all 16568 bases) were used for phylogenetic reconstruction.
3. Among 265 “novel” mtDNA sequences reported among Hispanics and African Americans in a recent addition to GenBank, 101 were of Native American origin.
4. All four Native American founder lineages (A2, B2, C1, D1) date to between 18,000-24,000 years ago.

Their results suggest that human expansion into the Americas coincided with the decline of the Last Glacial Maximum (Ice Age), knocking another hole in the “Clovis-first” hypothesis. Given that all four lineages give similar coalescent times, this study may also contribute to the “waves of migration” debate.

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Achilli A, Perego UA, Bravi CM, Coble MD, Kong QP, et al. (2008) The Phylogeny of the Four Pan-American MtDNA Haplogroups: Implications for Evolutionary and Disease Studies. PLoS ONE 3(3): e1764 doi:10.1371/journal.pone.0001764

Simon Mawer’s Mendel’s Dwarf examines the ethical implications of genetic research through a fictional account of the discovery of the achondroplasia (dwarfism) gene. The title character is Dr. Benedict Lambert, a geneticist who also happens to be a dwarf and a distant nephew of the father of genetics, Gregor Mendel.

The novel skips between Ben’s research and Mendel’s work. The historical part of the novel was much more interesting to me, being the history of my field. The modern sections spent a little to much time focused on the one part of Ben that was “normal-sized,” and as a result, Ben isn’t a likable or sympathetic character. The actions in his personal life overshadow his work and accomplishments.

The novel did give me the opportunity to think about my field in a new way. I had heard before the Darwin never read Mendel, but it hadn’t occurred to me that Mendel probably ready Darwin. On the Origin of Species was a famous book, not just in England but likely on the continent as well, so it makes sense that Mendel had access to it, given his interests.

Mention is made of the Russian geneticists who were prohibited from studying Mendel by the state, whose policy considered nurture above all, with no place for the possibility that some traits might be inherited. Those scientists who refused to toe the party line were either shot, imprisoned, or exiled to Siberia, some for upwards of 15 years. Scientists in the US have faced similar censorship in recent years, though not yet with such drastic results.

Mawer also draws parallels between the eugenics movement at the turn of the 20th century and modern “family-balancing” techniques, allowing parents to choose the sex of their offspring. He sees a slippery slope here, with genetic counseling being not so different from “purifying the genome” through ethnic cleansing. As a geneticist, I’m not sure I agree. But it’s definitely an issue worth examining, as we are only just beginning to consider the ethical implications of Mendel’s work.

Overall, the book is interesting, though it may make the reader uncomfortable. I think that, ultimately, may be Mawer’s intent.

As you may recall, James Watson caused quite a stir in a recent interview with the Sunday Times, and later apologized for what many considered his racist comments.  Cold Spring Harbor Laboratory released this statement today:

Cold Spring Harbor Laboratory (CSHL) today announced that Dr. James D. Watson, 79, has retired after nearly 40 years of distinguished service to CSHL. He had stepped down as President of CSHL in 2003 and most recently served as Chancellor.

In 1968, Watson became Director of Cold Spring Harbor Laboratory, transforming a small facility into one of the world’s great education and research institutions. Initiating a program to study the cause of human cancer, scientists under his direction have made major contributions to understanding the genetic basis of cancer. Having served as home to a total of seven Nobel Prize-winning scientists, CSHL expanded its research portfolio over the years to programs that now include a broad cancer program, plant biology, neuroscience, and computational biology. CSHL has also expanded its science educational programs under Watson’s direction to include the famed Banbury Center and the DNA Learning Center that teaches middle and high school students, and their teachers.

Eduardo Mestre, Chairman of the Board of CSHL, said, “For over 40 years, Dr. Watson has made immeasurable contributions to the Laboratory’s research and educational programs. His legacy as 1962 Nobel Prize laureate for describing the structure of DNA will continue to influence biomedical research for decades to come. The Board respects his decision to retire at this point in his career. We have great confidence in Dr. Bruce Stillman, who since 1994 has served as Director, then President. His leadership of CSHL’s 400 scientists will ensure the best environment for groundbreaking research.”

Dr. Stillman said, “Cold Spring Harbor Laboratory has been at the forefront of research ever since its founding in 1890, but Jim Watson created a research environment that is unparalleled in the world of science. It was that environment that attracted me here 28 years ago. As one of the most highly rated research institutions in the world today, our many award-winning researchers are well positioned to continue to make new research breakthroughs thanks to the extraordinary, young talent working here. We all owe Jim and his wife Liz a great deal of gratitude for devoting much of his professional career and all of their married life to building up Cold Spring Harbor Laboratory into a leading research center. Jim’s legacy will not only include CSHL and the double helix, but his pioneering efforts that led to the sequencing of the human genome and his innovations in science writing and education.”

Cold Spring Harbor Laboratory (CSHL) is a private, non-profit research and education institution dedicated to exploring molecular biology and genetics in order to advance the understanding and ability to diagnose and treat cancers, neurological diseases, and other causes of human suffering.

However they phrase it, it sounds as though Dr. Watson had very little choice in his “retirement.”

James Watson issued an apology today, stating:

I can certainly understand why people, reading those words, have reacted in the ways they have. To all those who have drawn the inference from my words that Africa, as a continent, is somehow genetically inferior, I can only apologise unreservedly. That is not what I meant. More importantly from my point of view, there is no scientific basis for such a belief.

I haven’t yet been able to track down an explanation of exactly what he did mean, but it’s an apology. In the meantime, Cold Spring Harbor Laboratory issued this statement yesterday:

The comments attributed to Dr. James Watson that first appeared in the October 14, 2007 edition of The Sunday Times U.K. are his own personal statements and in no way reflect the mission, goals, or principles of Cold Spring Harbor Laboratory’s Board, administration or faculty. Dr. Watson is not the President of Cold Spring Harbor Laboratory and was not speaking on behalf of the institution.

The Board of Trustees, administration and faculty vehemently disagree with these statements and are bewildered and saddened if he indeed made such comments. Cold Spring Harbor Laboratory does not engage in any research that could even form the basis of the statements attributed to Dr. Watson.

This morning, the lab announced that they had suspended Chancellor Watson from all of his administrative duties pending “further deliberation by the Board.”