Genetics

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Sonic hedgehog, a gene that plays a crucial rule in the positioning and growth of limbs, fingers and toes, has been confirmed in an unexpected place in the embryos of developing mice -- the layer of cells that creates the skin.

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This video discusses what is currently known about the role of genes verses the environment in causing autism. Through the use of twin studies, population studies and linkage disequilibrium (gene mapping) science has finally uncovered the underlying cause of autism, and has given us new insights into the underlying biology. This is a temporary video description – check back in a few days for the l…



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I have mentioned before the current fad in vitamin D related papers in the medical literature. It's also broken into the pop culture Zeitgeist as well, I regularly get forwards on the topic. Here is a Google Trends chart for the United States:

vitDtrends.png

The history of medicine is, unfortunately, rather similar to the history of astrology. In fact for much of history doctors are likely to have increased, rather than decreased, mortality, thanks to an ignorance of germ theory and false paradigms such as Humorism. The demand-side pressures for cures & prevention seems to still exert a powerful push toward the rise & fall of fads (see google trends for "low carb" for example). A difference between pre-modern and contemporary fads though is that they're not all capricious today. Unfortunately though medicine is still complex, and the demand-side pressures often require an Answer. You have rafts of correlational studies, with each correlation adding to a positive feedback loop until the fad crests, and a new "it-cure" emerges on the scene (and no surprise that the beer industry is supposedly behind some of the studies which show that drinking in moderation is correlated with greater life expectancy).

All this is why papers like this are important, Vitamin D controls T cell antigen receptor signaling and activation of human T cells:

Phospholipase C (PLC) isozymes are key signaling proteins downstream of many extracellular stimuli. Here we show that naive human T cells had very low expression of PLC-?1 and that this correlated with low T cell antigen receptor (TCR) responsiveness in naive T cells. However, TCR triggering led to an upregulation of ~75-fold in PLC-?1 expression, which correlated with greater TCR responsiveness. Induction of PLC-?1 was dependent on vitamin D and expression of the vitamin D receptor (VDR).Naive T cells did not express VDR, but VDR expression was induced by TCR signaling via the alternative mitogen-activated protein kinase p38 pathway. Thus, initial TCR signaling via p38 leads to successive induction of VDR and PLC-?1, which are required for subsequent classical TCR signaling and T cell activation.

ScienceDaily has a good summary. This schematic represents the biochemical steps:

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Seminar given by Dr Simone Rödder at the ESRC Genomics Forum on 26 March 2009 on ‘ Genome Researchers in the Public Sphere’. Simone is a postdoc at the Institute for Science and Technology Studies (IWT) at the University of Bielefeld and a visiting research fellow at the Genomics Forum from February to April 2009. Scientists are increasingly facing expectations to address audiences other than the…



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Research highlights

Nature Genetics 42, 195 (2010). doi:10.1038/ng0310-195

Author: Orli Bahcall, Pamela Colosimo, Emily Niemitz & Kyle Vogan

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Understanding variable expressivity in microdeletion syndromes

Nature Genetics 42, 192 (2010). doi:10.1038/ng0310-192

Authors: Joris A Veltman & Han G Brunner

A new study reports an elevated frequency of second-site genomic alterations among children with severe developmental delay who carry a recurrent microdeletion at chromosome 16p12.1. The work highlights the complex relationship between genotype and phenotype and provides a model to explain the clinical variability associated with this and other common microdeletion syndromes.

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Publication Date: 2010 Mar PMID: 20051985
Authors: Presgraves, D. C.
Journal: Nat Rev Genet

All plant and animal species arise by speciation - the evolutionary splitting of one species into two reproductively incompatible species. But until recently our understanding of the molecular genetic details of speciation was slow in coming and largely limited to Drosophila species. Here, I review progress in determining the molecular identities and evolutionary histories of several new 'speciation genes' that cause hybrid dysfunction between species of yeast, flies, mice and plants. The new work suggests that, surprisingly, the first steps in the evolution of hybrid dysfunction are not necessarily adaptive.

post to: CiteULike
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A new genetic test may help dieters decide whether they would lose more weight on a low-fat diet, one that cuts carbohydrates or a more balanced approach, maker Interleukin Genetics Inc reported on Wednesday.

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A re-editted version of the original, for accuracy. The last version wasn’t my best quality; I like to provide you guys with accurate information and videos that are worth your time. I rushed the script originally and half assed the first half of the actual video production, 1) because of time and wanting to get it done after procrastinating so long, and 2) my wrist was killing me. I messed up som…



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