Protein link to autism spectrum disorders?

Summaries of newsworthy papers - Medicine: Predicting diabetes development; Methods: Rapid, high-resolution, label-free imaging; Immunology: X-linked defects in B cell production; Geoscience: Fjord dynamics could affect Greenland glacier stability


For papers that will be published online on 20 March 2011

This press release is copyrighted to the Nature journals mentioned below.

This press release contains:

· Summaries of newsworthy papers:

Nature: Protein link to autism spectrum disorders?

Medicine: Predicting diabetes development

Methods: Rapid, high-resolution, label-free imaging

Immunology: X-linked defects in B cell production

Geoscience: Fjord dynamics could affect Greenland glacier stability

· 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 Press contacts for the Nature journals are listed at the end of this release.

Warning: This document, and the Nature journal papers to which it refers, may contain information that is price sensitive (as legally defined, for example, in the UK Criminal Justice Act 1993 Part V) with respect to publicly quoted companies. Anyone dealing in securities using information contained in this document, or in advance copies of a Nature journal’s content, may be guilty of insider trading under the US Securities Exchange Act of 1934.

PICTURES: To obtain artwork from any of the journals, you must first obtain permission from the copyright holder (if named) or author of the research paper in question (if not).

NOTE: Once a paper is published, the digital object identifier (DOI) number can be used to retrieve the abstract and full text from the journal web site (abstracts are available to everyone, full text is available only to subscribers). To do this, add the DOI to the following URL: (For example, For more information about DOIs and Advance Online Publication, see

HYPE: We take great care not to hype the papers mentioned on our press releases, but are sometimes accused of doing so. If you ever consider that a story has been hyped, please do not hesitate to contact us at [email protected], citing the specific example.


[1] Nature: Protein link to autism spectrum disorders?
DOI: 10.1038/nature09965

Mice carrying a mutation in Shank3 — a protein found in the post-synaptic area of neurons — exhibit social deficits and repetitive behaviour characteristic of autism spectrum disorders (ASDs). The findings, reported this week in Nature, demonstrate a critical role for Shank3 in the function of normal neuronal connectivity and provide a circuitry mechanism for its possible role in ASD-like behaviours.

Previous genetic studies have implicated mutations in synaptic proteins, specifically Shank3, with ASDs in humans. However, the function of the protein and its role in ASDs is unknown.

To study the behavioural consequences of Shank3 mutations, Guoping Feng and colleagues created mice that had Shank3 gene deletions. The authors observed that these mice exhibited self-injurious repetitive grooming and avoided social interactions with other mice — behaviours that are similar to those in humans with ASDs. Further analysis of their brains uncovered defects in striatal neurons as well as the circuits that connect cortical regions to the striatal area of the brain. The authors suggest that the cortico-striatal synaptic defects have an important role in ASD-like behaviors in the mice, and possibly in humans.

Author contact:

Guoping Feng (Massachusetts Institute of Technology, Cambridge, MA, USA)
Tel: +1 617 715 4898; E-mail: [email protected]

[2] Medicine: Predicting diabetes development
DOI: 10.1038/nm.2307

The levels of five amino acids can help predict the development of diabetes in the future, according to research published online this week in Nature Medicine. These findings suggest that amino acid levels could aid in diabetes risk assessment.

Robert Gerszten, Thomas Wang, and his colleagues studied 2,422 individuals who were followed for 12 years; among them, 201 developed diabetes. The authors found that the levels five amino acids—isoleucine, leucine, valine, tyrosine and phenylalanine—had highly significant associations with future diagnosis of diabetes. The results were replicated in an independent cohort, underscoring the potential key role of amino acid metabolism early in diabetes.

Author contacts:

Robert Gerszten (Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, USA)
Tel: +1 617 724 8322; E-mail: [email protected]

Thomas Wang (Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA)
Tel: +1 617 724 6158; E-mail: [email protected]

[3] Methods: Rapid, high-resolution, label-free imaging
DOI: 10.1038/nmeth.1585

The development of a rapid, high-resolution microspectroscopy imaging technique, and its use for imaging human cancer tissue samples, is reported online this week in Nature Methods. This imaging mode may have broad research applications in biology and chemistry as well as practical uses in medical imaging and forensics.

Fourier-transform infrared (FTIR) microspectroscopy is a chemical imaging technique that does not require stains or labels, which can perturb the sample under study. Instead, biological molecules are exposed to infrared light and generate signature spectra based on the vibrations of their chemical bonds in response to the light. In the past, low resolution and long image acquisition times have limited the applications of FTIR microspectroscopy.

Carol Hirschmugl, Rohit Bhargava and colleagues report an instrumental configuration change that substantially increases the spatial resolution of FTIR microspectroscopy and the size of the sample that can be imaged, while substantially decreasing the time required for obtaining such an image.

The spatial detail of the images made possible with this instrumental configuration should allow FTIR microspectroscopy to become competitive with optical microscopy in biomedical applications and beyond.

Author contacts:

Carol Hirschmugl (University of Wisconsin-Milwaukee, WI, USA)
Tel: +1 414 229 5748; E-mail: [email protected]

Rohit Bhargava (University of Illinois, Urbana-Champaign, IL, USA)
Tel: +1 217 265 6596; E-mail: [email protected]

[4] & [5] Immunology: X-linked defects in B cell production
DOI: 10.1038/ni.2011
DOI: 10.1038/ni.2012

An X-chromosome linked gene mutation that affects the development of antibody-producing B cells in the bone marrow is identified in two independent studies published online this week in Nature Immunology. Deciphering how the pathway for the mutation works may explain some inherited B cell deficiencies that affect males and could likewise provide a potential novel target for some B cell malignancies.

Chris Goodnow, Bruce Beutler, and their respective colleagues looked at chemically mutagenized mice with random single gene mutations, finding male mice with defective B cell generation. Beutler’s group shows this defect affects B cell generation in adult bone marrow but not in fetal liver. They trace the defect to the Atp11c gene, which encodes a protein that ‘flips’ particular membrane phospholipids from the facing outside to the cell interior. Lack of this protein is sufficient to doom the developing B cells; hence fewer cells emerge from the bone marrow and result in lower antibody production in response to infections. These findings suggest membrane phospholipid asymmetry somehow regulates B cell generation in the bone marrow context.

Author contacts:

Chris Goodnow (Australian National University, Canberra, Australia) Author paper [4]
Tel: +61 2 6125 3621; E-mail: [email protected]

Anselm Enders (Australian National University, Canberra, Australia) Author paper [4]
Tel: +61 2 6125 7605; E-mail: [email protected]

Bruce Beutler (The Scripps Research Institute, La Jolla, CA, USA) Author paper [5]
Tel: +1 858 784 8610; E-mail: [email protected]

[6] Geoscience: Fjord dynamics could affect Greenland glacier stability
DOI: 10.1038/ngeo1109

The layering of different water masses from the Arctic and Atlantic oceanic regions in the bounding fjord of one of Greenland’s largest glaciers affects its oceanic melting, according to a study online this week in Nature Geoscience. The interplay between seasonal runoff from the glacier itself and water derived from these two oceanic regions determines the distribution of heat — and hence probably melting — along the ice–ocean boundary.

Fiamma Straneo and colleagues collected oceanographic data at the margins of Helheim Glacier, Greenland, in August 2009 and March 2010. Their measurements document the layering of distinct water masses in the fjord, along with a circulation that is more complex than previously thought. Given that a significant proportion of the glacier’s melt occurs at its oceanic boundary, the researchers conclude that the shape and stability of Helheim Glacier, and potentially similar glacier–fjord systems in Greenland, could be strongly affected by the water circulation in the fjord.

Author contact:

Fiammetta Straneo (Woods Hole Oceanographic Institution, MA, USA)
Tel: +1 508 289 2914; E-mail: [email protected]


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

Nature (

[7] Along noncoding RNA maintains active chromatin to coordinate homeotic gene expression
DOI: 10.1038/nature09819

[8] Crystal structure of inhibitor of kB kinase beta
DOI: 10.1038/nature09853

[9] Structure and mechanism of the uracil transporter UraA
DOI: 10.1038/nature09885

[10] Local, persistent activation of Rho GTPases during plasticity of single dendritic spines
DOI: 10.1038/nature09823


[11] Delivery of siRNA to the mouse brain by systemic injection of targeted exosomes
DOI: 10.1038/nbt.1807


[12] A role for actin arcs in the leading-edge advance of migrating cells
DOI: 10.1038/ncb2205

[13] Control of PKA stability and signalling by the RING ligase praja2
DOI: 10.1038/ncb2209

[14] MicroRNAs are transported in plasma and delivered to recipient cells by high-density lipoproteins
DOI: 10.1038/ncb2210

[15] Analysis of the myosin II-responsive focal adhesion proteome reveals a role for b‑Pix in negative regulation of focal adhesion maturation
DOI: 10.1038/ncb2216


[16] Optimization of a blueprint for in vitro glycolysis by metabolic real-time analysis
DOI: 10.1038/nchembio.541

[17] Albumins and their processing machinery are hijacked for cyclic peptides in sunflower
DOI: 10.1038/nchembio.542

[18] Interfacial enzyme kinetics of a membrane bound kinase analyzed by real-time MAS -NMR
DOI: 10.1038/nchembio.543


[19] Distortion-triggered loss of long-range order in solids with bonding energy hierarchy
DOI: 10.1038/nchem.1007

[20] Covalent bulk functionalization of graphene
DOI: 10.1038/nchem.1010


[21] Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach
DOI: 10.1038/ng.785

[22] Silencing of microRNA families by seed-targeting tiny LNAs
DOI: 10.1038/ng.786

[23] Large-scale analysis of the regulatory architecture of the mouse genome with a transposon-associated sensor
DOI: 10.1038/ng.790


[24] Patterns of intraplate volcanism controlled by asthenospheric shear
DOI: 10.1038/ngeo1111

[25] Fan-delta uplift and mountain subsidence during the Haiti 2010 earthquake
DOI: 10.1038/ngeo1115


[26] Support nanostructure boosts oxygen transfer to catalytically active platinum nanoparticles
DOI: 10.1038/nmat2976

[27] Memory and topological frustration in nematic liquid crystals confined in porous materials
DOI: 10.1038/nmat2982

[28] Porphysome nanovesicles generated by porphyrin bilayers for use as multimodal biophotonic contrast agents
DOI: 10.1038/nmat2986


[29] RGMa modulates T cell responses and is involved in autoimmune encephalomyelitis
DOI: 10.1038/nm.2321


[30] mProphet: automated data processing and statistical validation for large-scale SRM experiments
DOI: 10.1038/nmeth.1584


[31] Transforming C60 molecules into graphene quantum dots

[32] Three-dimensional bicontinuous ultrafast-charge and -discharge bulk battery electrodes


[33] HDAC1 and HDAC2 control the transcriptional program of myelination and the survival of Schwann cells
DOI: 10.1038/nn.2762

[34] HDAC-mediated deacetylation of NF-kB is critical for Schwann cell myelination
DOI: 10.1038/nn.2780

Nature PHYSICS (

[35] Controlling the quantum stereodynamics of ultracold bimolecular reactions
DOI: 10.1038/nphys1939

[36] Timing the release in sequential double ionization
DOI: 10.1038/nphys1946

[37] Millikelvin cooling of an optically trapped microsphere in vacuum
DOI: 10.1038/nphys1952

[38] A synthetic electric force acting on neutral atoms
DOI: 10.1038/nphys1954


[39] Dominant prion mutants induce curing through pathways that promote chaperone-mediated disaggregation
DOI: 10.1038/nsmb.2031

[40] Strain conformation, primary structure and the propagation of the yeast prion [PSI+]
DOI: 10.1038/nsmb.2030

[41] Homology-directed Fanconi anemia pathway crosslink repair is dependent on DNA replication
DOI: 10.1038/nsmb.2029



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.

Brisbane: 17
Canberra: 4

Innsbruck: 13

Sofia: 26

Hamilton: 21
Toronto: 28

Beijing: 9
Shanghai: 28

Praha: 26

Ballerup: 22

Creteil: 21
Lyon: 21
Paris: 41

Erlangen: 20, 26
Frankfurt: 18, 36
Garching: 35
Goettingen: 34
Hannover: 35
Heidelberg: 23, 30
Karlsruhe: 21

Athens: 21
Patras: 21

Hong Kong: 35

Cagliari: 21
Naples: 11, 3
Rende: 13
Rome: 13, 41
Segrate: 27
Trieste: 26

Aichi: 29
Chiba: 29
Hyogo: 19
Kanagawa: 29
Kyoto: 25, 27
Osaka: 29
Tokyo: 27, 29
Tsukuba: 19
Yokohama: 21

Pohang: 4

Msida: 21

Mexico City: 38

Groningen: 16
Leiden: 21
Rotterdam: 21, 33

Bergen: 6
Oslo: 24

Coimbra: 1
Lisbon: 21
Oeiras: 1

Belgrade: 21

Connexis: 31
Singapore: 31

Barcelona: 26

Malmo: 2

Basel: 16, 33
Geneva: 8
Zurich: 16, 17, 30, 33, 34, 36

Istanbul: 21

Bristol: 21
London: 21
Oxford: 11, 21


La Jolla: 5, 8, 15, 40
San Francisco: 40
Stanford: 7, 21

Boulder: 35

Newark: 34

Tallahassee: 12

Honolulu: 24

Chicago: 3
Urbana: 3, 32

Lawrence: 6
Kansas City: 21

Orono: 6

Baltimore: 15
Bethesda: 2, 12, 14, 15, 21
Gaithersburg: 35

Billerica: 8
Boston: 2, 21
Cambridge: 1, 2
Framingham: 2
Woods Hole: 6
Worcester: 7

Ann Arbor: 7

St Louis: 28

Las Vegas: 24

New York
Cold Spring Harbor: 22
New York: 3, 41

North Carolina
Durham: 1, 10

Columbus: 34

Philadelphia: 21

Rhode Island
Providence: 24, 39

Austin: 37
Dallas: 34

Chantilly: 21

Seattle: 6, 30

Madison: 34
Milwaukee: 3
Stoughton: 3


For media inquiries relating to embargo policy for all the Nature Research Journals:

Rachel Twinn (Nature London)
Tel: +44 20 7843 4658; E-mail: [email protected]

Neda Afsarmanesh (Nature New York)
Tel: +1 212 726 9231; E-mail: [email protected]

Ruth Francis (Head of Press, 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 Biotechnology (New York)
Michael Francisco
Tel: +1 212 726 9288; E-mail: [email protected]

Nature Cell Biology (London)
Sowmya Swaminathan
Tel: +44 20 7843 4656; E-mail: [email protected]

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

Nature Chemistry (London)
Stuart Cantrill
Tel: +44 20 7014 4018; E-mail: [email protected]

Nature Climate Change (London)
Olive Heffernan
Tel: +44 20 7014 4009; E-mail: [email protected]

Nature Genetics (New York)
Myles Axton
Tel: +1 212 726 9324; E-mail: [email protected]

Nature Geoscience (London)
Heike Langenberg
Tel: +44 20 7843 4042; E-mail: [email protected]

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

Nature Materials (London)
Vincent Dusastre
Tel: +44 20 7843 4531; E-mail: [email protected]

Nature Medicine (New York)
Juan Carlos Lopez
Tel: +1 212 726 9325; E-mail: [email protected]

Nature Methods (New York)
Hugh Ash
Tel: +1 212 726 9627; E-mail: [email protected]

Nature Nanotechnology (London)
Peter Rodgers
Tel: +44 20 7014 4019; Email: [email protected]

Nature Neuroscience (New York)
Kalyani Narasimhan
Tel: +1 212 726 9319; E-mail: [email protected]

Nature Photonics (Tokyo)
Oliver Graydon
Tel: +81 3 3267 8776; E-mail: [email protected]

Nature Physics (London)
Alison Wright
Tel: +44 20 7843 4555; E-mail: [email protected]

Nature Structural & Molecular Biology (New York)
Sabbi Lall
Tel: +1 212 726 9326; E-mail: [email protected]

About Nature Publishing Group (NPG):

Nature Publishing Group (NPG) is a publisher of high impact scientific and medical information in print and online. NPG publishes journals, online databases and services across the life, physical, chemical and applied sciences and clinical medicine.

Focusing on the needs of scientists, Nature (founded in 1869) is the leading weekly, international scientific journal. In addition, for this audience, NPG publishes a range of Nature research journals and Nature Reviews journals, plus a range of prestigious academic journals including society-owned publications. Online, provides over 5 million visitors per month with access to NPG publications and online databases and services, including Nature News and NatureJobs plus access to Nature Network and Nature Education’s

Scientific American is at the heart of NPG’s newly-formed consumer media division, meeting the needs of the general public. Founded in 1845, Scientific American is the oldest continuously published magazine in the US and the leading authoritative publication for science in the general media. Together with and 15 local language editions around the world it reaches over 3 million consumers and scientists. Other titles include Scientific American Mind and Spektrum der Wissenschaft in Germany.

Throughout all its businesses NPG is dedicated to serving the scientific and medical communities and the wider scientifically interested general public. Part of Macmillan Publishers Limited, NPG is a global company with principal offices in London, New York and Tokyo, and offices in cities worldwide including Boston, Buenos Aires, Delhi, Hong Kong, Madrid, Barcelona, Munich, Heidelberg, Basingstoke, Melbourne, Paris, San Francisco, Seoul and Washington DC. For more information, please go to

Published: 21 Mar 2011

Contact details:

The Macmillan Building, 4 Crinan Street
N1 9XW
United Kingdom

+44 20 7833 4000
News topics: 
Content type: