June 2004

"A good marriage would be between a blind wife and a deaf husband"1Actually, it seems that good marriages occur between a deaf husband and a deaf wife: Such is the attraction that, in the United States, 85% of individuals with profound deafness marry another deaf person. One consequence of this, according to a potentially explosive article in the American Journal of Human Genetics, is that the incidence of nonsyndromic deafness may have increased two-fold over the past 200 years.2The article is

In Italy, a committee comprising three members grants tenured positions atthe lowest level, namely research assistant professor. These committees draw members from two sources: The institution that makes the position available nominates one person, and the others are elected, at the national level, by professors in the field. National regulations require that the applicants submit a limited number of published papers. The universities specify the number; the applicants choose which papers are su

1. What's the next level of mapping?With the human genome sequenced, researchers are charting other cell components. The transcriptome describes all the transcriptional units, coding and noncoding, in the genome. The proteome comprises all proteins made by a cell, while the localizome identifies where each peptide resides. These maps vary depending on a cell's age, type, and condition. The glycome and the lipidome map two other classes of biomolecules, carbohydrates and lipids, respectively.2. H

In 1988, The Scientist featured the most highly cited papersin the life sciences. All were method papers, with the venerable Lowry protein measurement technique nominated as the King of Citations.1Looking at papers published in the past 10 years using ISI Essential Science Indicators, we found that method papers still rule, though the focus has changed from measuring cell constituents to conducting computer analysis of nucleic acid and protein sequences.- Alexander Grimwade

Courtesy of Dietmar SchumuckerI got this cDNA sequence alignment for the Dscam gene in October 1999 while working in Larry Zipursky's lab. The gap in the alignment hinted at alternative splicing of the transmembrane domain. But that was just the tip of the iceberg: The handwritten inset is from my notes indicating not only this successful sequencing reaction but also that two reactions failed – much to my frustration (see the question marks). It turned out, however, that this was good news

Amid stacks of books in the front room of his house near Oxford University, writer and evolutionist Richard Dawkins points to a piece of memorabilia: A replica of the Australopithecus africanus skull known as "Mrs. Ples," a gift to him from a 1997 lecture in South Africa. Dawkins, who spent the first two years of his life in East Africa, still remembers the whitewashed huts his parents built near the Mbagathi River, a scene he calls his private Eden. "On a larger scale, Africa is Eden to us all,

FINE LINESThom Graves MediaThe ethical dimension of assisted reproduction cannot be divorced from the science, as was illustrated by two seemingly contradictory decisions by the United Kingdom's Human Fertilization and Embryology Authority. The HFEA approved an application for use of preimplantation genetic diagnosis (PGD) for a couple that had an existing child with Fanconi anemia. They wished to conceive a second child, both free of the disease and HLA compatible with the first. Stem cells tak

FISHING FOR A HEALTHY BABY:Courtesy of the Reproductive Science Center of the San Francisco Bay Area, http://www.rscbayarea.comMulticolor Fluorescence in Situ Hybridization (FISH) can detect chromosomal abnormalities, such as aneuploidy, in cells removed from a developing embryo.Fast improving techniques for detecting genetic and chromosomal abnormalities via preimplantation genetic diagnosis (PGD) may boost the success rate of in vitro fertilization (IVF). Some clinics report a twofold to three

TRANSCRIPTIONAL DIVERSITY:Horst Feldmann, Ludwig-Maximilians-Universität MüchenTranscription by Pol II is dependent on a number of multi-subunit complexes including TFIID, a general transcription factor complex, and SAGA. Both deliver the TATA-box binding protein (TBP) to promoters and they share a number of TBP associated factors (TAFs). While they have overlapping contributions to gene expression, TFIID function appears to dominate gene regulation at 90% of the measurable genome, mos

HALF A MIND:©2002, The National Academy of SciencesLesioned brains 16 weeks after embryonic stem cell transplant stain positive for tyrosine hydroxylase (TH: green), dopamine transporter (DAT: red), and aromatic amino acid decar-boxylase (AADC: blue) in an overlaid image. Bar equals 25 μm.Since drawing the attention of scientists, ethicists, and policymakers, stem cells have not lost their place as one of the most promising yet controversial scientific discoveries of the 20th century.

COOPERATIVE CELLS:Courtesy of Michael CarrollThe evolution of complex biologic organisms began with the symbiotic relationship between pro- and eukaryotes (I). This relationship gave rise to mitochondria (II), and the resulting diversity of unicellular organisms (III) led to their metabolic cooperativity (IV) mediated by ligand-receptor interactions and cell-cell signaling. Natural selection generated an increasing complexity (V). Failed homeostatic signaling (VI) recapitulates hylogeny/ontogeny

Courtesy of Brian OakleyResearchers say they have identified bacteria thriving at the lowest temperatures for which such activity is documented. Several such ultracold microbe findings are making the possibility of life elsewhere in the Solar System seem less distant and are presenting new biotechnological possibilities.The University of Washington's James Staley and colleagues say they cultured rod-shaped bacteria, tentatively named Psychromonas ingrahamii, from off Alaska's coast, at -12°

People love to talk, and such chattiness may have catalyzed a divergence from chimpanzees. A clue to how that may have happened lies in deaf populations where sign language has facilitated marriage between individuals with the same type of recessive deafness, an example of assortative mating.Walter Nance, the human genetics professor at Virginia Commonwealth University who recently modeled such relaxed selection on connexin 26 deafness,1 sees a bigger picture. "Assortative mating brings together

Courtesy of Trident Photographic ServicesUK and US teams independently pinpointed a gene for Cornelia de Lange syndrome (CdLS), ending a 15-year search.12 Tests for the disorder may be forthcoming. CdLS occurs in 1 in 30,000–40,000 births, causing debilitating growth problems and deformities as well as behavioral difficulties. Misdiagnoses can result in patients succumbing to potentially fatal problems such as twisted bowel.Independently, Tom Strachan1 at University of Newcastle, UK, and I

Cindy MageeThe Biopython project http://www.biopython.org released its new version 1.3 last month. Hosted by the Open Bioinformatics Foundation (OBF), Biopython is an international effort to build reusable, open-source tools and libraries for bioinformaticians using an interpreted language called Python http://www.python.org.Like its sister projects (BioPerl, BioJava, and BioRuby) at OBF, Biopython includes code to manipulate and annotate sequences, communicate with remote databases, parse file

Courtesy of Priscilla FurthScientists have tried at least four methods for delivering nucleic acids to mammalian tissues for the purpose of inducing exogenous gene expression: scarifying the epithelium with a razor blade, then smearing the skin with DNA; scratching the skin with the back of an 18-gauge needle followed by smearing on of DNA; intradermal inoculation and puncture 200 times with a 27-gauge needle; and interdermal inoculation using a jet injector. The first two techniques didn't work

Courtesy of Leica MicrosystemsConfocal and multiphoton microscopes are standard fare in academic imaging facilities, but ultrahigh-resolution systems generally have a smaller user base – namely, their inventors. Soon facilities around the world can have a piece of the pie – 4Pi, that is.Leica Microsystems http://www.leica-microsystems.com recently introduced a new microscope featuring the 4Pi technology developed by Stefan Hell of the Max Planck Institute for Biophysical Chemistry, G

EXQUISITE SENSITIVITY:In the new assay system used at the Mirkin lab, the protein to be detected (in this case, prostate specific antigen, PSA) is sandwiched between a magnetic microparticle (MMP) and a gold nanoparticle (NP). The system detects the bio-bar-codes present on the NPs with sensitivity five orders of magnitude greater than that of ELISA. (Reprinted with permission, Science, 301:1884–6, 2003.)As any 5-year-old child will tell you, magnets are great for lifting things off the fl

Courtesy of TrimGenIf you are not lucky enough to have a restriction enzyme site in your mutation-of-interest, chances are you have had to fall back on sequencing to detect it. But this time-consuming method of detecting mutations could soon be a thing of the past, thanks to new technology called Mutector from Sparks, Md.-based TrimGen http://www.trimgen.com.According to marketing manager Brad Oswald, Mutector eliminates false positives and negatives and produces results in 2–3 hours, comp

Courtesy of Applied BiosystemsFoster City, Calif.-based Applied Biosystems http://www.appliedbiosystems.com has officially entered the microarray marketplace. Combining chemiluminescent detection with improved probe design, the new Expression Array system provides an average sensitivity of 0.5 copies per cell, compared to the one to three copies per cell afforded by most fluorescent platforms.Chemiluminescence addresses a major drawback of fluorescence-based detection systems: The light used to

Applications and approvals for new molecular entities (NMEs) in the United States continue to fall ...... while it continues to dominate R&D spending and total pharmaceutical sales.- Ken Kostel

Assessing whether a laboratory practice makes great science or an invitation to an ethics investigation is not always easy in the highly charged atmosphere of a research enterprise.

I must admit I was jealous that Craig Venter donated his own DNA to Celera's sequencing project; his sense of self has reached the molecular level. So, I was thrilled recently to see direct-to-consumer genetic testing on the Internet.Don't misunderstand; I'm not advocating that we should get an APOE test [for Alzheimer disease] at the mall in between buying shoes and downing a Frappucino. There's serious genetic testing, for metabolic syndromes, and familial breast cancer, for example. And then