Genes 2 Brains 2 Mind 2 Me

Image via Wikipedia Welcome to the 24th edition of Gene Genie!! During these grey winter doldrums, it is all too easy to hunker down and withdraw from the blogosphere into the minutiae of grant writing and lab management (brrr– I haven’t posted in weeks). So it is with true delight that I present and thank our contributors for brightening the season.

Firstly, a new paper by Mercer et al., in PNAS showing that presumed spurious transcriptional slop, does not appear to be as sloppy, spurious or incidental as predicted – and hence – may have possible functionality (in the brain at least) has sparked some interesting exchanges among our contributors. Genomicron gives some insightful critiques to the proposition that “God, as they say, don’t make no junk” in his article, Is most of the human genome functional ? After reading Greg Laden’s post, Genes are only part of story: ncRNA does stuff, I think there is good reason to put these neuronally expressed ncRNA’s to use and think harder on their possible functions. Skeptical biologist Larry Moran rightly cautions us in his Sandwalk blog to think clearly about the basic biochemical pathways of the Central Dogma before over-hyping a new paradigm of functionality of spurious transcripts. Junk or no junk – THE CENTRAL DOGMA STANDS !

Next, on to the core mission of Gene Genie – a few articles on personalized genetics and the continued unfolding of genetic functionality of individual genes such as SCH9, CNTNAP2, GDF5, ELA2 and others in healthcare.

In what will certainly be one of the most notable findings of 2008, Ouroboros covers the recent paper showing that mutations in the kinase SCH9, combined with intervention in the RAS and TOR genetic pathways can greatly extend the life cycle of budding yeast. Apparently, there is an important connection between genome stability and longevity and the, as yet undetermined, key regulators of stability in humans will be of tremendous interest to all of us.

The discovery of new genetic loci gives hope to parents of autistic children. As reported in Mapping new autism gene(s) to chromosome 16, a small region containing about 25 genes in the p11.2 region of chromosome 16 contains a risk factor that will shed light on the developmental origins of this disorder. Furthermore, as has long been observed, there are epigenetic phenomena related to the risk of autism as reported in Autism Vox of a recent study showing that maternal inheritance of CNTNAP2 confers greater risk than paternal inheritance. Such parent-of-origin effects can be tricky to pin down in mapping studies and trickier still to explain evolutionarily. In Sunday syndrome #5: The anarchist that wasn’t, cotch dot net provides some in-depth coverage of these epigenetic phenomena. The new genetics hasn’t quite pinned down the mechanisms of epigenetic regulation (there are ncRNAs involved as in the case of the h19 igf2 system) but personalized genetic services are well advised to offer assessments of epigenetic risk. A sobering account, as reported by DNA and You, of a different type of parent-of-origin effect – that donor sperm from the same individual transmitted a mutation in the ELA2 gene to 5 separate children, giving them a condition called severe congenital neutropenia – heightens one’s awareness of the potential of personalized medicine to screen for severe developmental risk factors. Apparently, insurance companies see the promise and are moving closer to valuation, payment and implementation strategies as reported on by DNA Direct Talk. Congratulations to the state of Wisconsin for their new offering of screening newborns for Severe Combined Immune Deficiency (SCID) as reported in ScienceRoll.

The GDF5 gene, as reported on by Genetics & Health is a regulator of long bone length (height) as well as common variants recently have been tied to susceptibility to osteoarthritis of the hip and knees in Asian and European populations.

Other large population genome association studies found “seven new genes that influence blood cholesterol levels, a major factor in heart disease, and confirmed 11 other genes previously thought to influence cholesterol”. Gene Sherpas covers the possible role of such genes in the context of the recently flopped ENHANCE trial.

If you are interested in these and many other genetic variants and are considering shelling out the cash and diving into the new personalized genetic era in medicine, the Genetic Genealogist provides a great up-to-date summary of folks’ experience with the 23andMe service.

If you happen to be a male with hair (or at least a male with hair seeking a mate who wonders whats in store for said hair), you may wish to forgo the 23andMe expense and put your money down elsewhere as Eye on DNA reports that men can obtain an highly predictive genetic test for baldness. Whew, I’m glad my wife did not know about this test before we were married (and my genetic program subsequently ran its sad inexorable course). More amusing still, is the video on gene chip conspiracies posted by evolgen – amusing, that is, unless Illumina does actually take over the world.

Amidst the rise of personalized medicine, GrrlScientist covers a recent econo-genetic analysis of the pricing of “stud fees” in the high-stakes horse racing marketplace Nature versus Nurture: Are Champion RaceHorses Born Or Made? posted at Living the Scientific Life. The data show convincingly that pricing strictly based on one’s genetic heritage (and ignoring the role of training in performance) is invalid. As an aside, I couldn’t help but chuckle reminded of Eric Roberts in “The Pope of Greenwich Village” who bet it all on a horse whose paternal genome was acquired via – lets just say – handily creative – means. He and Micky Rourke could have used this paper ! Horse racing (and Eric Roberts’ great hair) aside, as personalized medicine continues apace, the basic science lesson should be well heeded amidst the many new personal genome rollouts. THE ENVIRONMENT IS JUST AS IMPORTANT AS THE GENOME !!

And lastly, this edition also received a number of thoughtful articles that highlight the far reaching impact the new genetics is having on the cultural and spiritual well-being of homo sapiens. Our human genome is an amazing historical document. Each gene tells a story of who we are and what we might become – thanks to our contributors for teaching us how to read it !

Mike Haubrich, FCD probes a deep and fundamental human struggle concerning religion and human origins in his review of a recent PLoS article and also of Richard Dawkins’ book in Ancestor Tales and Gene Loss Adaptation posted at Tangled Up in Blue Guy. A valuable resource in gaining perspective on this debate is reviewed by GrrlScientist in Science, Evolution, and Creationism — The Free Download.

Aardvarchaeology covers some of the more recent – albeit equally passionate – issues of genetic history and ethnic identity in his critique on the origins of Slavic people in his Genes and Peoples article. Clearly we all will be re-thinking our ethnic identities as each of us discovers our own genetic legacy. Thanks to Dr. Rundkvist for giving us a great example of how to do this.

Sudip Ghosh reminds us – it will be a sad day indeed when our evolutionary genetic heritage – in the form of “designer” genetic variants – are mere commodities for sale in A Step Closer to the Great “Gene” Sale? posted at GNIF Brain Blogger. Certainly, the value of the genome is worth more when it can enhances our humanity and dignitiy rather than as a monetized commodity. Thanks for this Sudip!

Alvaro Fernandez’s posts an interview in Learning & The Brain: Interview with Robert Sylwester at SharpBrains. As a parent of two very different little tykes (independent assortment is no joke!), I much enjoyed this post and concur that paying more attention to basic mechanisms of how children develop empathy and social-emotional awareness as an interaction between genes and environment leads to a more fulfilling experience for parent, educator and child alike.

Well, this issue was a welcome dose of interest during an otherwise bleak winter! I hope your new year is off to a good start. Please share your thoughts and insights with the next Gene Genie issues by posting here. If you’d like to host an edition, don’t hesitate to contact berci.mesko [at] gmail.com. Thanks to Ricardo Vidal for the Gene Genie logo!

*** Don your crampons and ascend to the summit with Gene Sherpas for the next edition of Gene Genie ***

All the very best, John