NATURE AND THE NATURE RESEARCH JOURNALS PRESS RELEASE
For papers that will be published online on 04 February 2007
This press release is copyrighted to the Nature journals mentioned below.
This press release contains:
· Summaries of newsworthy papers:
New form of bone disorder identified – Nature Genetics
Annotating the human genome – Nature Genetics
Learning to keep newborn neurons – Nature Neuroscience
Release requirements – Nature Structural & Molecular Biology
A tool to delete DNA – Nature Methods
· Mention of papers to be published at the same time with the same embargo
· Geographical listing of authors
PDFs of all the papers mentioned on this release can be found in the relevant journal’s section of http://press.nature.com. Press contacts for the Nature journals are listed at the end of this release.
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**********************************NATURE GENETICS **************************
 New form of bone disorder identified
Scientists have identified a new form of the bone disorder osteogenesis imperfecta, and have determined the genetic defect that underlies it, according to a study to be published in the March issue of Nature Genetics. Osteogenesis imperfecta (OI) is a disorder characterized by bones that break easily, and is caused by mutations in the gene encoding the protein type I collagen. The classical form of OI is a dominant disease, meaning that a mutation in only one copy of the type I collagen gene is sufficient to cause the disease.
Joan Marini and colleagues have now identified a new recessive form of the disease, in which mutations of both copies of a gene are required. Predicting that some forms of OI might be caused by altered forms of proteins that interact with and modify type I collagen, the authors sequenced the gene encoding an enzyme called P3H1 in five individuals with severe or lethal abnormal bone development. Mutations that either significantly reduced or eliminated the amount of P3H1 were found in all five individuals. P3H1 chemically modifies a single amino acid in type I collagen, which presumably facilitates folding and promotes stability. This recessive form of OI has features that overlap with those of classical OI, but is also characterized by distinctive features.
Joan Marini (National Institute of Child Health and Human Development, Bethesda, MD, USA)
Tel: +1 301 594 3418; E-mail: [email protected]
 Annotating the human genome
An important step in the effort to compile a complete catalogue of functional elements in the human genome is to be published in the March issue of Nature Genetics. A specific chemical signature of DNA sequences that promote the expression of nearby genes has been identified, and researchers should now be able to more accurately predict the location and function of these sequences.
Analysis of the complete sequence of the human genome has identified approximately 25,000 genes, but genes comprise only a small fraction of the genome. At least some of the remainder of the genome consists of sequences called promoters and enhancers that determine when, where, and to what extent each of these genes will be expressed. While promoters are typically found immediately adjacent to genes, enhancers can be located much further away, making it difficult to identify them.
Bing Ren and colleagues examined 1% of the human genome and catalogued a number of different chemical modifications that are made to histones, which are proteins that bind to and package DNA, and are known to be involved in gene regulation. They found that the histones bound to known promoters are marked by chemical modifications that are distinct from those found on histones bound to enhancers. This information enabled the authors to accurately predict the location and function of promoters and enhancers that were independently identified, as well as identify a previously undiscovered enhancer.
Bing Ren (Ludwig Institute for Cancer Research, La Jolla, CA, USA)
Tel: +1 858 822 5766; E-mail: [email protected]
Other papers from Nature Genetics to be published online at the same time and with the same embargo
 Interleukin-2 gene variation impairs regulatory T cell function and causes autoimmunity
 Differential translation efficiency of orthologous genes is involved in phenotypic divergence of yeast species
***********************************NATURE NEUROSCIENCE **********************
 Learning to keep newborn neurons
Newly generated neurons are specially selected during the formation and recall of new memories, according to a study in the March issue of Nature Neuroscience. These results suggest that these neurons make a special contribution to memory processing.
Paul Frankland and colleagues labeled newborn neurons in the mouse hippocampus – an area of the brain important for memory – and studied the expression of proteins that are activated upon the formation of new synapses. They found that by the time the new cells were four weeks old, they were much more likely than old cells to be activated when the mice performed a spatial learning task. These newborn cells were also preferentially reactivated when the animals were tested to see if they remembered previously learned spatial locations, suggesting that the neurons had been successfully incorporated into memory-related neural circuits.
Neurons were preferentially activated during learning for only a limited window of time after their birth however. By eight weeks, the young cells were no more likely to be recruited than older cells. The authors suggest that new neurons may therefore be born in the adult brain because they are important for learning.
Paul Frankland (Hospital for Sick Children, Toronto, Ontario, Canada)
Tel: +1 416 813 7654 x1823; E-mail: [email protected]
Other papers from Nature Neuroscience to be published online at the same time and with the same embargo:
 Inverted-U dopamine D1 receptor actions on prefrontal neurons engaged in working memory
******************NATURE STRUCTURAL AND MOLECULAR BIOLOGY************************
 Release requirements
A report in the March issue of Nature Structural & Molecular Biology reveals how some viruses, such as HIV-1, must assemble and release themselves from infected host cells before invading neighboring, uninfected cells.
The host protein Alix is known for its role in sorting proteins into their proper intracellular compartments, but it is also used by a region of HIV-1 Gag protein, called p6, to promote release of viral particles from virus-infected cells. James Hurley and colleagues have used X-ray crystallography and site-directed mutagenesis to identify residues in Alix important for p6 binding, and therefore essential for virus release. This new data gives us information on what regions of host proteins are important for viruses like HIV-1 to move from cell to cell, which we may be able to use to turn against the viruses to reduce the spread of infection.
James Hurley (National Institute of Diabetes & Digestive & Kidney Diseases, Bethesda, MD, USA)
Tel: +1 301 402 4703; E-mail: [email protected]
 A tool to delete DNA
A paper to be published online in the February issue of Nature Methods introduces a tool to rapidly delete regions of chromosome in mammalian cells including embryonic stem cells. This new technique makes it possible to screen many different genomic regions and identify those essential for specific functions in adult and embryonic stem cells.
Guy Sauvageau and colleagues used the enzyme Cre – which joins two stretches of DNA (loxP sites) – thereby cutting out all DNA in between. By putting the loxP sites in separate retroviral vectors – viruses that have been stripped of most of their genetic material and can now be safely used to deliver DNA into cells – and sequentially infecting stem cells, the authors ensured a random distribution of loxP sites in the genome. Addition of the enzyme Cre led to deletion of chromosomal regions, ranging in size from 6 kilobase pairs, likely to include only one gene, to 23 megabase pairs, including many genes and their regulatory regions.
Guy Sauvageau (University of Montreal, Quebec, Canada)
Tel: +1 514 343 7134; E-mail: [email protected]
Other papers from Nature Methods to be published online at the same time and with the same embargo:
 Focused-ion-beam thinning of frozen-hydrated biological specimens for cryo-electron microscopy
 Ubc9-fusion directed SUMOylation (UFDS): A method to analyze function of protein SUMOylation
Items from other Nature journals to be published online at the same time and with the same embargo:
 eIF4E function in somatic cells modulates ageing in Caenorhabditis elegans
NATURE CHEMICAL BIOLOGY (http://www.nature.com/nchembio)
 Vitamin B6 conjugation to nuclear corepressor RIP140 and its role in gene regulation
Nature PHYSICS (http://www.nature.com/naturephysics)
 Spatially resolved soft X-ray spectrometry from single-image diffraction
 Probing rare physical trajectories with Lyapunov weighted dynamics
Nature MEDICINE (http://www.nature.com/naturemedicine)
 Brain glucose metabolism controls the hepatic secretion of triglyceride-rich lipoproteins
 Disruption of methylarginine metabolism impairs vascular homeostasis
 Aldosterone impairs vascular reactivity by decreasing glucose-6-phosphate dehydrogenase activity
Nature IMMUNOLOGY (http://www.nature.com/natureimmunology)
 Medullary thymic epithelial cells expressing Aire represent a unique lineage derived from cells expressing claudin
 The adaptor Act1 is required for interleukin 17–dependent signaling associated with autoimmune and inflammatory disease
NATURE CELL BIOLOGY (http://www.nature.com/naturecellbiology)
 The Ets transcription factor GABP is required for cell-cycle progression
 Cooperative demethylation by JMJD2C and LSD1 promotes androgen receptor-dependent gene expression
 Insulin signalling to mTOR mediated by the Akt/PKB substrate PRAS40
GEOGRAPHICAL LISTING OF AUTHORS
The following list of places refers to the whereabouts of authors on the papers numbered in this release. The listing may be for an author's main affiliation, or for a place where they are working temporarily. Please see the PDF of the paper for full details.
Belo Horizonte: 13
Toronto: 5, 15
UNITED STATES OF AMERICA
La Jolla: 2
New Haven: 6
District of Columbia
Bar Harbor: 3
Bethesda: 1, 7
Boston: 2, 17
Ann Arbor: 17
Minneapolis: 12, 22
For media inquiries relating to embargo policy for all the Nature Research Journals:
Katherine Anderson (Nature London)
Tel: +44 20 7843 4502; E-mail: [email protected]
Ruth Francis (Senior Press Officer, Nature, London)
Tel: +44 20 7843 4562; E-mail: [email protected]
For media inquiries relating to editorial content/policy for the Nature Research Journals, please contact the journals individually:
Nature Cell Biology (London)
Tel: +44 20 7843 4892; E-mail: [email protected]
Nature Chemical Biology (Boston)
Tel: +1 617 475 9241, E-mail: [email protected]
Nature Genetics (New York)
Tel: +1 212 726 9311; E-mail: [email protected]
Nature Immunology (New York)
Tel: +1 212 726 9372; E-mail: [email protected]
Nature Materials (London)
Tel: +44 20 7843 4556; E-mail: [email protected]
Nature Medicine (New York)
Juan Carlos Lopez
Tel: +1 212 726 9325; E-mail: [email protected]
Nature Methods (New York)
Tel: +1 212 726 9393; E-mail: [email protected]
Nature Neuroscience (New York)
Sandra Aamodt (based in California)
Tel: +1 530 795 3256; E-mail: [email protected]
Nature Physics (London)
Tel: +44 20 7843 4555; E-mail: [email protected]
Nature Structural & Molecular Biology (New York)
Tel: +1 212 726 9326; E-mail: [email protected]
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