Koolen et al.
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
Shaw-Smith et al.
Sharp et al.
Dierick & Greenspan
Molecular analysis of flies selected for aggressive behavior
Comments welcome.
Ruderfer et al.
Population genomic analysis of outcrossing and recombination in yeast
Shi et al.
JAK signaling globally counteracts heterochromatic gene silencing
Comments welcome.
Hsien-Hsien Lei has been moderating a very interesting interview series at Genetics and Health, and now has posted a Q & A with yours truly. Topics include the Nature Publishing Group, peer review, blogs, open access, and others.
Pickersgill et al.
Characterization of the Drosophila melanogaster genome at the nuclear lamina
Dews et al.
Augmentation of tumor angiogenesis by a Myc-activated microRNA cluster
Mahadevan et al.
Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy
Comments welcome.
Price et al.
Principal components analysis corrects for stratification in genome-wide association studies
Liu et al.
Lei & Corces
RNA interference machinery influences the nuclear organization of a chromatin insulator
Comments welcome.
Crow et al.
Crow et al.
Lehner et al.
Ozaki et al.
A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population
Comments welcome.
Edge has a very interesting and wide-ranging tour of synthetic/constructive biology by George Church. Here’s the intro:
The biggest questions I’m asking myself, at least in the laboratory, are: “What is it that makes us individuals?” That’s what we call the personal genome project. Its aim is holistic, in contrast to the usual single disease or tissue.
The second is: how do we engineer biology? which can be called our “constructive biology” or “biological design” efforts. The two might intersect quite nicely in the form of personalized medicine.
The first — what makes us who we are — could apply to all living things, but for now let’s say humans. It’s an analytic question: it can be addressed with genomic tools — technologies — which we develop.
The second question, the synthetic one, is how can we redesign living systems to achieve new goals. How can we evolve them in the laboratory, in subtle or in radical ways, to achieve biomedical, or agricultural, or other manufacturing goals. Those are the two big questions that we deal with.
The intersection is in personalized medicine, where you would ask, once you know who you are, what you would need to fix, or improve. In the world of engineering and commerce a few fields display exponential growth curves. Most fields of endeavor do not — e.g. ; steel and cotton have pretty bumpy but basically slow flat growth. But information technologies, computers, communication, DNA sequencing, synthesis — have exponential curves, with nearly yearly doubling.
Gene Expression has 10 questions for Jim Crow (and answers). Here’s Crow, responding to a question about the difficulties in addressing hot-button issues such as possible intergroup genetic variation contributing to differences in brain development and/or intelligence:
I hope that such questions can be approached with the same objectivity as that when we study inheritance of bristle number in Drosophila, but I don’t expect it soon. There are too many strongly held opinions. I thought Lahn had a clever idea in thinking that the normal alleles of head-reducing mutants might be responsible for evolution of larger heads in human ancestry. Likewise, I think that Cochran et al. are fully entitled to consider the reasons for Jewish intelligence and I found their arguments interesting. In my view it is wrong to say that research in this area — assuming it is well done — is out of order. I feel srongly that we should not discourage a line of research because someone might not like a possible outcome.
You can read the two most relevant papers by Lahn and colleagues here and here, as well as just-published criticisms of this work, and a response by Lahn and colleagues. As for the paper by Cochran et al. entitled “Natural History of Ashkenazi Intelligence”, a good summary has been written by Steven Pinker.
In 1963, Peter Medawar wrote an essay entitled “Is the Scientific Paper a Fraud?”. He meant this not in terms of a deliberate deception, but as a way of expressing the fact that its form “misrepresents the processes of thought that accompanied or give rise to the work that is described in the paper”. One additional way in which the form of a published paper can be somewhat misleading arises when, to improve the logical flow of a manusript, results are reported in a sequence that does not represent the order in which they were originally generated. On 25 June we published a paper from a group led by Christine Petit of the Pasteur Institute in Paris. The paper describes the identification of mutations in a gene encoding a protein called pejvakin in two families from Iran. These families have several individuals with autosomal recessive auditory neuropathy, a form of nonsyndromic deafness in which the defect is not in the cochlea, but somewhere in the neural transmission of the auditory signal. The identification of pejvakin is exciting because it provides one of the first glimpses at the molecular level of how deafness might arise from altered function of auditory neurons. Petit and colleagues show later in the paper that mice harboring a mutation in the ortholog of pejvakin have a similar phenotype. Thus, the mouse lends support to the human findings. In fact, it was the other way around.
Christine Petit explains:
Briefly, we started the study reported in our paper with only some quite basic audiometric information concerning some deaf families living in very remote villages up in the Iranian mountains. In actual fact, it is through the generation and study of the corresponding mouse model that we discovered that the knock-in mice were affected with an auditory neuropathy. This raised the key issue of whether or not the deaf individuals were suffering from auditory neuropathy as well. We then undertook the arduous task of organizing clinical investigations of these patients who were kindly willing to travel an entire day to get to the city. The exams were performed on our behalf by Iranian clinicians, and back in Paris, some 3,500 miles away, we were anxiously waiting on the phone to hear about their diagnosis. The otoacoustic emissions were indeed preserved in the two deaf families examined. In addition, there was also evidence for desynchronized auditory brainstem responses! Together, the animal model was closely mimicking the auditory neuropathy present in these individuals! Isn’t this a good illustration that there is sometimes quite a gap between the way results are presented and the way they are obtained?
In the acknowledgements, the authors thank the staff at the Pasteur Institute of Iran for their help in collecting samples. A brief introduction to this institute can be found here.