New form of bone disorder identified

Summaries of newsworthy papers from Nature journals include Annotating the human genome, Learning to keep newborn neurons, Release requirements and A tool to delete DNA


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

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**********************************NATURE GENETICS **************************

[1] New form of bone disorder identified

DOI: 10.1038/ng1968

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.

Author contact:

Joan Marini (National Institute of Child Health and Human Development, Bethesda, MD, USA)

Tel: +1 301 594 3418; E-mail: [email protected]

[2] Annotating the human genome

DOI: 10.1038/ng1966

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.

Author contact:
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

[3] Interleukin-2 gene variation impairs regulatory T cell function and causes autoimmunity
DOI: 10.1038/ng1958

[4] Differential translation efficiency of orthologous genes is involved in phenotypic divergence of yeast species
DOI: 10.1038/ng1967

***********************************NATURE NEUROSCIENCE **********************

[5] Learning to keep newborn neurons

DOI: 10.1038/nn1847

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.

Author contact:
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:

[6] Inverted-U dopamine D1 receptor actions on prefrontal neurons engaged in working memory
DOI: 10.1038/nn1846

******************NATURE STRUCTURAL AND MOLECULAR BIOLOGY************************

[7] Release requirements

DOI: 10.1038/nsmb1203

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.

Author contact:

James Hurley (National Institute of Diabetes & Digestive & Kidney Diseases, Bethesda, MD, USA)

Tel: +1 301 402 4703; E-mail: [email protected]

*********************************NATURE METHODS******************************

[8] A tool to delete DNA

DOI: 10.1038/nmeth1011

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.

Author contact:

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:

[9] Focused-ion-beam thinning of frozen-hydrated biological specimens for cryo-electron microscopy
DOI: 10.1038/nmeth1014

[10] Ubc9-fusion directed SUMOylation (UFDS): A method to analyze function of protein SUMOylation
DOI: 10.1038/nmeth1006


Items from other Nature journals to be published online at the same time and with the same embargo:

Nature (

[11] eIF4E function in somatic cells modulates ageing in Caenorhabditis elegans
DOI: 10.1038/nature05603


[12] Vitamin B6 conjugation to nuclear corepressor RIP140 and its role in gene regulation
DOI: 10.1038/nchembio861

Nature PHYSICS (

[13] Spatially resolved soft X-ray spectrometry from single-image diffraction
DOI: 10.1038/nphys516

[14] Probing rare physical trajectories with Lyapunov weighted dynamics
DOI: 10.1038/nphys515


[15] Brain glucose metabolism controls the hepatic secretion of triglyceride-rich lipoproteins
DOI: 10.1038/nm1540

[16] Disruption of methylarginine metabolism impairs vascular homeostasis
DOI: 10.1038/nm1543

[17] Aldosterone impairs vascular reactivity by decreasing glucose-6-phosphate dehydrogenase activity
DOI: 10.1038/nm1545


[18] Medullary thymic epithelial cells expressing Aire represent a unique lineage derived from cells expressing claudin

DOI: 10.1038/ni1438

[19] The adaptor Act1 is required for interleukin 17–dependent signaling associated with autoimmune and inflammatory disease

DOI: 10.1038/ni1439


[20] The Ets transcription factor GABP is required for cell-cycle progression
DOI: 10.1038/ncb1548

[21] Cooperative demethylation by JMJD2C and LSD1 promotes androgen receptor-dependent gene expression
DOI: 10.1038/ncb1546

[22] Insulin signalling to mTOR mediated by the Akt/PKB substrate PRAS40
DOI: 10.1038/ncb1547



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.

Victoria: 18

Vienna: 21

Belo Horizonte: 13

Calgary: 3
Montreal: 8
Toronto: 5, 15

Paris: 14

Bonn: 21
Freiburg: 21
Hannover: 10
Heidelberg: 10
Martinsried: 10

Heraklion: 11

Rehovot: 4

Fukuoka: 18
Kyoto: 18
Tokushima: 18

Porto: 5

Cambridge: 3
London: 16
Middlesex: 16
Southampton: 13


Carlsbad: 15
La Jolla: 2

New Haven: 6

District of Columbia
Washington: 1

Chicago: 1

Bar Harbor: 3

Bethesda: 1, 7
Frederick: 7

Boston: 2, 17

Ann Arbor: 17

Minneapolis: 12, 22

New Jersey
Rahway: 3

New York
Albany: 9
Bronx: 15

North Carolina
Durham: 2

Cincinnati: 15
Cleveland: 19

Philadelphia: 18

Rhode Island
Providence: 20

Dallas: 6

Richmond: 19

Seattle: 1

Madison: 2


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Tel: +44 20 7843 4502; E-mail: [email protected]

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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)
Bernd Pulverer
Tel: +44 20 7843 4892; E-mail: [email protected]

Nature Chemical Biology (Boston)
Andrea Garvey
Tel: +1 617 475 9241, E-mail: [email protected]

Nature Genetics (New York)
Orli Bahcall
Tel: +1 212 726 9311; E-mail: [email protected]

Nature Immunology (New York)
Laurie Dempsey
Tel: +1 212 726 9372; E-mail: [email protected]

Nature Materials (London)
Maria Bellantone
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)
Allison Doerr
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)
Alison Wright
Tel: +44 20 7843 4555; E-mail: [email protected]

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Tel: +1 212 726 9326; E-mail: [email protected]

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Published: 04 Feb 2007

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