Female-specific genetic risk factor for Alzheimer’s disease

Summaries of newsworthy papers including Photonics: One-way photonic street, Genetics: Common mutation underlying epilepsy identified, Geoscience: Is the acceleration of Greenland’s glaciers short-lived?, Physics: Long-range quantum manipulation, and Nature: Natural killer cells never forget.

NATURE AND THE NATURE RESEARCH JOURNALS PRESS RELEASE

For papers that will be published online on 11 January 2009
This press release is copyrighted to the Nature journals mentioned below.

This press release contains:

· Summaries of newsworthy papers:

Genetics: Female-specific genetic risk factor for Alzheimer’s disease
Photonics: One-way photonic street
Genetics: Common mutation underlying epilepsy identified
Geoscience: Is the acceleration of Greenland’s glaciers short-lived?
Physics: Long-range quantum manipulation
And finally…Nature: Natural killer cells never forget

· 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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[1] Genetics: Female-specific genetic risk factor for Alzheimer’s disease
DOI: 10.1038/ng.305

A variant in a gene on the X chromosome is associated with increased risk of Alzheimer’s disease specifically in women, according to a study published online this week in Nature Genetics. This is the first evidence for a sex-specific genetic risk factor for this disease.

Late-onset Alzheimer’s disease is a neurodegenerative disorder and is the most common cause of dementia in the elderly. Variation in the gene APOE is the only consistently replicated genetic risk factor known. Steven Younkin and colleagues carry out a genome-wide association study of individuals with Alzheimer’s disease, and identify a variant in the gene PCDH11X as associated with susceptibility to the disease with a high degree of statistical significance. When the authors analyzed the data accounting for sex, they found that the association was almost entirely restricted to women. PCDH11X encodes a protein called a protocadherin, which is part of a family of molecules that promote cell-cell adhesion and signaling in the central nervous system. Some evidence suggests that protocadherins may be split to an active form by an enzyme linked to early-onset forms of Alzheimer’s disease.

Author contact:
Steven Younkin (Mayo Clinic College of Medicine, Jacksonville, FL, USA)
Tel: +1 904 953 7353; E-mail: [email protected]

[2] Photonics: One-way photonic street
DOI: 10.1038/nphoton.2008.273

Scientists have developed a compact optical ‘isolator’, capable of sending light in one direction at a time. The device, made with silicon nanophotonic structures will be highly important for future optical circuitry on a chip.

The development of sophisticated integrated photonic circuits has been hindered by the difficulty of performing ‘on-chip’ complete optical isolation -- a perfect one-way valve for light propagation. Backwards-propagating light, commonly caused by reflections, is often problematic in photonic devices and can severely degrade the performance of optical communication systems. Devices for quenching backwards-propagating light, known as optical isolators, already exist. The problem is that these isolators rely on magneto-optical materials that are not compatible with integrated circuit manufacturing techniques, in particular silicon complementary metal-oxide-semiconductor (CMOS) technology.

Online this week in Nature Photonics, Shanhui Fan and Zongfu Yu propose an on-chip optical isolation scheme using photonic structures composed of silicon waveguides and ring-resonators. By modulating the refractive index of the structures in time and space, energy and momentum are imparted to the forwards-propagating, (but not to the backwards-propagating) light, allowing them to be separated. The result is an ultra-compact complete optical isolator that can be built using CMOS-compatible materials systems.

Author contact:
Shanhui Fan (Stanford University, CA, USA)
Tel: +1 650 724 4759; E-mail: [email protected]

[3] Genetics: Common mutation underlying epilepsy identified
DOI: 10.1038/ng.292

A deletion on chromosome 15 is the most prevalent risk factor for common epilepsies identified to date, according to a study published online this week in Nature Genetics.

Up to one-third of all epilepsies -- seizure disorders -- are termed idiopathic generalized epilepsies (IGE), for which genetic causes are largely unknown. Previous work has mapped potential genetic risk factors to a region on chromosome 15, which has recently been shown to idiopathic generalized epilepsies have a deletion that results in elevated risk for different combinations of mental retardation, schizophrenia, autism and epilepsy.

Thomas Sander and a consortium of investigators report that this deletion is present in approximately 1% of individuals with IGE who do not have mental retardation or psychosis. This result suggests that the chromosome 15 deletion can give rise to a wide range of neurological disorders, with IGE being the most common outcome. The deletion harbors at least seven genes, one of which is CHRNA7, which regulates signaling at neuronal synapses. Mutations in other members of this gene family are known to cause a rare form of epilepsy, suggesting that deletion of CHRNA7 may underlie the chromosome 15 association with IGE.

Author contact:
Thomas Sander (University of Cologne, Germany)
Tel: +49 221 4701506; E-mail: [email protected]

[4] Geoscience: Is the acceleration of Greenland’s glaciers short-lived?
DOI: 10.1038/ngeo394

The dramatic retreat observed recently in Greenland’s outlet glaciers could be a transient response to climatic changes, suggests a study online in Nature Geoscience. Recent increases in the rates of mass loss from Greenland should therefore not be extrapolated into the future.

Faezeh Nick, Andreas Vieli and colleagues present a numerical ice-flow model that reproduces the retreat, thinning and acceleration of Helheim Glacier, Greenland. Their results suggest that Greenland’s outlet glaciers are very sensitive to changes at their seaward end, and adjust extremely rapidly.

Such a mechanism could explain the synchronous behaviour of several Greenland glaciers in response to climatic changes, and implies that the observed loss from Greenland glaciers does not provide a reliable measure for the longer-term mass balance of the ice sheet.

Author contact:
Andreas Vieli (Durham University, UK)
Tel: +44 191 334 1855; E-mail: [email protected]

[5] & [6] Physics: Long-range quantum manipulation
DOI: 10.1038/nphys1183
DOI: 10.1038/nphys1178

When two atoms are suitably prepared, one can be used to control the quantum state of the other, even if they are several micrometres apart — a considerable distance for atoms. These results, reported online this week in Nature Physics, should enable controlled manipulation of quantum entanglement. This is the key ingredient in protocols that harness the properties of quantum physics for applications like computation and communication.

It has been predicted that when individual ‘Rydberg’ atoms – neutral atoms with electrons in highly excited states – strongly interact, certain quantum transitions that are possible for a single particle are forbidden for the collective. This mechanism has now been independently observed for pairs of individually trapped Rydberg atoms by the groups of Antoine Browaeys and Mark Saffman. In these settings, both the individual atoms as well as the interaction between them can be controlled, meaning that they should be a suitable platform for practical applications.

Author contacts:

Antoine Browaeys (CNRS and Université de Paris-Sud, Palaiseau, France) Author paper [5]
Tel: + 33 1 6453 3379, E-mail: [email protected]

Mark Saffman (University of Wisconsin, Madison, WI, USA) Author paper [6]
Tel: +1 608 265 5601; E-mail: [email protected]

[7] And finally…Nature: Natural killer cells never forget
DOI: 10.1038/nature07665

A study in this week’s Nature reports that certain cells of the innate immune system can ‘remember’ infectious agents - an ability previously only attributed to cells of the adaptive immune system. The findings might explain some immune disorders such as skin allergies and have important implications for vaccine design.

Natural killer (NK) cells are powerful assassins that help the immune system to eradicate virus-infected cells. The ability to remember an infectious agent is termed ‘immunological memory’ and was previously only attributed to cells such as B and T cells, which comprise the adaptive immune system. NK cells were classified as cells of the innate immune system, which react to infection each time as if it is the first encounter.

Lewis Lanier and colleagues monitored NK cells in mice after virus infection and found that some develop into ‘memory’ cells that hang around longer than the others. When the virus returns, these cells react faster and better to clear the infection more quickly.

The research suggests that NK cells represent an evolutionary intermediate between the very basic innate immune system and the highly tuned adaptive immune system.

Author contact:
Lewis Lanier (University of California, San Francisco, CA, USA)
Tel: +1 415 514 0829; E-mail: [email protected]

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

Nature (http://www.nature.com/nature)

[8] Genetic architecture of mouse skin inflammation and tumour susceptibility
DOI: 10.1038/nature07683

[9] Transcriptome sequencing to detect gene fusions in cancer
DOI: 10.1038/nature07638

NATURE CELL BIOLOGY (http://www.nature.com/naturecellbiology)

[10] Involvement of linear polyubiquitylation of NEMO in NF‑kB activation
DOI: 10.1038/ncb1821

[11] Interaction between TAK1–TAB1–TAB2 and RCAN1–calcineurin defines a signalling nodal control point
DOI: 10.1038/ncb1823

[12] Nuclear signalling by tumour-associated antigen EpCAM
DOI: 10.1038/ncb1824

[13] Reprogramming of fibroblasts into induced pluripotent stem cells with orphan nuclear receptor Esrrb
DOI: 10.1038/ncb1827

NATURE CHEMICAL BIOLOGY (http://www.nature.com/nchembio)

[14] Monomeric fluorescent timers that change color from blue to red report on cellular trafficking
DOI: 10.1038/nchembio.138

[15] Design of isoform-selective phospholipase D inhibitors that modulate cancer cell invasiveness
DOI: 10.1038/nchembio.140

NATURE GENETICS (http://www.nature.com/naturegenetics)

[16] DCTN1 mutations in Perry syndrome
DOI: 10.1038/ng.293

[17] Experimental evolution reveals natural selection on standing genetic variation
DOI: 10.1038/ng.289

[18] Identification of a putative lysosomal cobalamin exporter altered in the cb1F defect of vitamin B12 metabolism
DOI: 10.1038/ng.294

[19] Increased LIS1 expression affects human and mouse brain development
DOI: 10.1038/ng.302

NATURE GEOSCIENCE (http://www.nature.com/ngeo)

[20] High methylation rates of mercury bound to cysteine by Geobacter sulfurreducens
DOI: 10.1038/ngeo412

NATURE IMMUNOLOGY (http://www.nature.com/natureimmunology)

[21] Foxo1 links homing and survival of naive T cells by regulating L-selectin, CCR7 and interleukin 7 receptor
DOI: 10.1038/ni.1689

[22] Regulation of conformer-specific activation of the integrin LFA-1 by a chemokine-triggered Rho signaling module
DOI: 10.1038/ni.1691

[23] Interleukin 7 signaling in dendritic cells regulates the homeostatic proliferation and niche size of CD4+ T cells
DOI: 10.1038/ni.1695

NATURE MATERIALS (http://www.nature.com/naturematerials)

[24] Complex and hierarchical micelle architectures from diblock copolymers using living, crystallization-driven polymerizations
DOI: 10.1038/nmat2356

[25] Infection-mimicking materials to program dendritic cells in situ
DOI: 10.1038/nmat2357

[26] Polymer chain dynamics and glass transition in athermal polymer/nanoparticle mixtures
DOI: 10.1038/nmat2354

Nature MEDICINE (http://www.nature.com/naturemedicine)

[27] AdPLA ablation increases lipolysis and prevents obesity induced by high-fat feeding or leptin deficiency
DOI: 10.1038/nm.1904

[28] Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy
DOI: 10.1038/nm.1907

NATURE METHODS (http://www.nature.com/nmeth)

[29] Large-Scale Profiling of Protein Palmitoylation in Mammalian Cells
DOI: 10.1038/nmeth.1293

[30] miRNA in situ hybridization in mammalian tissues fixed with formaldehyde and EDC
DOI: 10.1038/nmeth.1294

NATURE NANOTECHNOLOGY (http://www.nature.com/nnano)

[31] Infrared nanoscopy of strained semiconductors
DOI: 10.1038/nnano.2008.399

[32] Donor deactivation in silicon nanostructures
DOI: 10.1038/nnano.2008.400

Nature NEUROSCIENCE (http://www.nature.com/natureneuroscience)

[33] Identification of distinct telencephalic progenitor pools for neuronal diversity in the amygdala
DOI: 10.1038/nn.2241

[34] Neuronal release of proBDNF
DOI: 10.1038/nn.2244

[35] Neural correlates of categorical perception in learned vocal communication
DOI: 10.1038/nn.2246

[36] N-acetylcysteine reverses cocaine-induced metaplasticity
DOI: 10.1038/nn.2250

[37] The tumor suppressor Pml regulates cell fate in the developing neocortex
DOI: 10.1038/nn.2251

[38] Synaptotagmin IV: a multifunctional regulator of peptidergic nerve terminals
DOI: 10.1038/nn.2252

Nature PHYSICS (http://www.nature.com/naturephysics)

[39] Tuning intermolecular interaction in long-range-ordered submonolayer organic films
DOI: 10 1038/nphys1176

[40] Diffraction-limited performance and focusing of high harmonics from relativistic plasmas
DOI: 10 1038/nphys1158

Nature STRUCTURAL & MOLECULAR BIOLOGY (http://www.nature.com/natstructmolbiol)

[41] High-resolution dynamic mapping of histone-DNA interactions in a nucleosome
DOI: 10.1038/nsmb.1526

[42] Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility
DOI: 10.1038/nsmb.1527

[43] Structures of endonuclease V with DNA reveal initiation of deaminated adenine repair
DOI: 10.1038/nsmb.1538

[44] SRS2 and SGS1 prevent chromosomal breaks and stabilize triplet repeats by restraining recombination
DOI: 10.1038/nsmb.1544

[45] An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells
DOI: 10.1038/nsmb.1545

**************************************************************************************************

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.

ARGENTINA
Buenos Aires: 33

AUSTRIA
Vienna: 3

CANADA:
Montreal: 18
Toronto: 19, 24
Vancouver: 16

DENMARK
Copenhagen: 3, 4
Dianalund: 3

FRANCE
Caen: 16
Marseille: 3
Nice: 3
Orsay: 5
Palaiseau: 5
Paris: 18, 44

GERMANY
Berlin: 3, 18
Bonn: 3, 30
Cologne: 3, 18
Düsseldorf: 28
Garching: 31, 40
Julich: 39
Karlsruhe: 39
Kiel: 3
Marburg: 3
Martinsried: 31
Munich: 12, 31
Munster: 18
Ulm: 3
Wurzburg: 39

ISRAEL
Rehovot: 19

ITALY
Milan: 28, 44
Rome: 28
Troina: 3
Verona: 22

JAPAN
Fukuoka: 16
Maebashi: 19
Osaka: 10
Saitama: 10
Tokyo: 8, 10

NETHERLANDS
Goes: 3
Hoofddorp: 3
Utrecht: 3

NORWAY
Oslo: 43

PORTUGAL
Oeiras: 17

RUSSIA
Moscow: 40

SINGAPORE
Singapore: 13

SPAIN
Alicante: 19
Salamanca: 8
San Sebastian: 31

SWITZERLAND
Basel: 18, 30
Geneva: 3
Ruschlikon: 32
Zurich: 12, 18

TURKEY
Ankara: 16
Istanbul: 23

UNITED KINGDOM
Belfast: 40
Bristol: 24
Didcot: 40
Durham: 4
Glasgow: 40
Leicester: 37
London: 16

UNITED STATES OF AMERICA
Arkansas
Little Rock: 19
California
Berkeley: 8, 27, 38
Irvine: 17
La Jolla: 29, 43, 45
San Diego: 19, 21
San Francisco: 7, 8, 37
Stanford: 2
Connecticut
New Haven: 27, 41
District of Columbia
Washington: 33
Florida
Jacksonville: 1, 16
Jupiter: 11
Illinois
Chicago: 42
Maine
Bangor: 19
Maryland
Bethesda: 12, 23, 34
Frederick: 34
Massachusetts
Boston: 13, 19, 21, 25
Cambridge: 25
Medford: 42, 44
Michigan
Ann Arbor: 9, 26
Minnesota
Minneapolis: 28
Rochester: 1
New Jersey
New Brunswick: 19
Princeton: 20
New York
Bronx: 14
Buffalo: 8
Ithaca: 41
New York: 17, 30, 34, 38, 41
North Carolina
Durham: 35
Ohio
Cincinnati: 11
Columbus: 4
Pennsylvania
University Park: 42
South Carolina
Charleston: 36
Clemson: 43
Tennessee
Nashville: 15
Texas
Houston: 19
Washington
Bothell: 22
Seattle: 3, 4
West Virginia
Morgantown: 16
Wisconsin
Madison: 6, 38

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Nature Genetics (New York)
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Tel: +1 212 726 9311; 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)
Alison Stoddart
Tel: +44 20 7843 4593; E-mail: [email protected]

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

Nature Methods (New York)
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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]

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

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Published: 11 Jan 2009

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