Rare variant, common disease

Summaries of newsworthy papers include: Taking the measure of a trans-Neptunian object; Rift and break up; Measuring up?; Single-molecule vibrations under control; Written in stone

This press release contains:

· Summaries of newsworthy papers:

Astronomy: Taking the measure of a trans-Neptunian object

Tectonics: Rift and break up

Opinion: Measuring up?

Genetics: Rare variant, common disease

Chemical physics: Single-molecule vibrations under control

And finally… Written in stone

· Mention of papers to be published at the same time with the same embargo

· Geographical listing of authors

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[1] Astronomy: Taking the measure of a trans-Neptunian object (pp 897-900; N&V)

A successful campaign to catch a small planetary body in the act of eclipsing a star has allowed astronomers to determine the body’s size and reflectivity. The results, published in Nature this week, raise questions about the environment and evolution of the outer Solar System, and also demonstrate a new way to study the inhabitants of this distant region.

The Kuiper belt, which lies immediately beyond Neptune’s orbit, is home to small bodies (Kuiper belt objects, or KBOs) that are thought to have formed at the same time as the planets. Their small size and great distance from the Earth make them difficult to examine directly, but they can be studied when they pass in front of a star, blocking its light. Such ‘stellar occultations’ can be used to measure the diameter of the eclipsing object, by comparing the transit times seen at two or more telescopes that fall under the path of the shadow.

James Elliot and colleagues did this for an occultation by the object KBO 55636 in October 2009 — the first time this method has been used for an object smaller than Pluto’s companion Charon. The authors determined a mean radius for KBO 55636 of 143 ± 5 km, smaller than had previously been thought. The small size means that KBO 55636 must have a very high surface reflectivity, which in turn implies the presence of fresh water-ice on its surface — a finding that is hard to reconcile with the apparent dynamical age of about one billion years for KBO 55636.

Author contact:
James Elliot (Massachusetts Institute of Technology, Cambridge, MA, USA)
Tel: +1 617 253 630
E-mail: [email protected]

[2] Tectonics: Rift and break up (pp 913-917)

In Nature this week, scientists reveal that magmatism associated with continental rifting depends on rift history as well as mantle temperature. The research reconciles previously conflicting observations and brings a new understanding to models of continental break-up.

Rift-related magmatism occurs at places on the Earth’s surface where the continents are pulled apart, such as along the North Atlantic margins during the break-up of Europe and North America. Such magmatism has been related to mass extinctions and changes in global climate. Scientists have generally thought that mantle temperature is the main control on how much magmatism is generated during rifting, but some regions do not conveniently fit this model. In the northwest Indian Ocean, for example, the Seychelles–Indian continental margins show little magmatism, despite having been influenced by a hotspot when they were rifted apart.

John Armitage and colleagues apply a numerical model that explicitly accounts for the effects of earlier episodes of extension to compare magmatism generated during continental rifting. They find that the volume of rift-related magmatism generated, both in the northwest Indian Ocean and on the North Atlantic margins, depends not only on the mantle temperature but also on the rift history. The inherited extensional history can either suppress or enhance melt generation, thus explaining the previously conflicting observations.

Author contact
John Armitage (Imperial College London, UK)
Tel: +44 2075941182
E-mail: [email protected]

Opinion: Measuring up?

In a poll of 150 of Nature's readers, 63% of researchers said that they are unhappy with how 'metrics' are used to assess their career progress, and more than 70% expressed concern that people at their institution cheat by taking advantage of the measuring system.

Metrics are used to boil down aspects of a scientist's performance — such as the number of papers he or she has published, or how influential these papers are — to a single number. There are concerns that such metrics are used too heavily by tenure committees or hiring panels when making a decision about who gets what. This could lead to unfair decisions and cause researchers to put too much emphasis on frantically publishing papers, thereby reducing incentives to contribute to the scientific community in more subtle ways (such as by curating a data repository, running a conference or spending time reviewing papers). Nature's reporting reveals that most university administrators don't rely as heavily on these numbers as some people fear. But there are still causes for concern.

Two News Features cover the survey and look at what metrics exist and how they are used, and an Opinion piece gathers six experts to recommend how to improve the system.

Contact:
Please contact the press office if you have queries about the survey or News Features.

[3] Genetics: Rare variant, common disease (AOP)

*This paper will be published electronically on Nature's website on 16 June at 1800 London time / 1300 US Eastern time (which is also when the embargo lifts) as part of our AOP (ahead of print) programme. Although we have included it on this release to avoid multiple mailings it will not appear in print on 17 June, but at a later date.*

The enzyme sialic acid acetylesterase (SIAE) regulates the activity of antigen receptors on the so-called B cells of the immune system: knocking out the enzyme in mice causes B cells to mount an immune attack against the animal’s own tissues.

In this week’s Nature, Shiv Pillai and colleagues investigated whether rare variants of the SIAE gene, resulting in the loss of enzyme function, are found more often in patients with autoimmune disorders than in healthy people.

By sequencing the gene from more than 600 patients and around 550 controls, and investigating in vitro the functioning of the variants discovered, Pillai and his team show that defective rare and polymorphic variants are a strong indicator of susceptibility to relatively common autoimmune diseases. The study provides one of the first examples of the importance of rare variants in complex diseases.

Author contact:
Shiv Pillai (Massachusetts General Hospital, Boston, MA, USA)
Tel: +1 617 726 5619
E-mail: [email protected]

[4] Chemical physics: Single-molecule vibrations under control (pp 905-908)

The vibrational dynamics of single molecules have been observed and controlled by exposing them to sequences of ultrashort laser pulses. The technique, demonstrated in this week's Nature, reveals differences in the behaviour of chemically identical molecules, and should allow detailed study, in many systems, of the effects of molecular dynamics on function.

In recent years, ultrafast laser spectroscopy has made it possible to control chemical processes by directly manipulating the quantum states of molecules. But the degree of this ‘coherent control’ is often limited by the fact that even chemically identical molecules can behave differently, depending on their conformation and the local chemical environment.

Fernando Stefani and colleagues have sidestepped this problem by applying coherent control techniques to single molecules. Using sequences of 15-femtosecond laser pulses to excite single molecules of a fluorescent substance, the authors show how the fluorescence of each molecule varies with the timing and phase distribution of the pulses. Tailoring the pulse sequence to the dynamics of each molecule allows the maximum degree of control to be exercised.

The ability to observe and manipulate the coherent dynamics of single molecules should provide new insights into the functioning of many important systems, such as light-harvesting complexes, conjugated polymers, and metallic or metal-organic hybrid nanostructures.

Author contact:
Fernando Stefani (Universidad de Buenos Aires, Argentina)
Tel: +54 9 11 6594 4160
E-mail: [email protected]

[5] And finally… Written in stone (pp 909-912)

Massive releases of sulphur dioxide can result from volcanic eruptions. If the gas is then oxidized to sulphate, the planet’s sulphate aerosol layer, and so climate, can be affected.

Sulphur dioxide oxidation can occur via several different pathways that depend on its flux and the atmospheric conditions. In this week’s Nature, Huiming Bao and colleagues show that information about past volcanic eruptions and atmospheric conditions can be retrieved from the sulphur dioxide oxidation product, sulphate, which is preserved in the rock record. The group use isotope measurements from volcanic-ash-containing rocks and link sulphate aerosol deposition events to seven volcanic eruptions in North America during the mid-Cenozoic era (34 to 7 million years ago).

Using a model to simulate atmospheric sulphur chemistry, Bao and colleagues also show that the observed, isotopically discrete sulphates found in the sediments could have been produced only in alkaline cloudwater that favours an ozone-dominated sulphur dioxide oxidation pathway in the troposphere. This indicates that cloudwater in North America’s northern High Plains may have been alkaline during the mid-Cenozoic, in contrast to today’s mostly weakly acidic conditions.

Author contact:
Huiming Bao (Louisiana State University, Baton Rouge, LA, USA)
Tel: +1 225 578 3419
E-mail: [email protected]

ALSO IN THIS ISSUE…

[6] Diphthamide biosynthesis requires an organic radical generated by an iron–sulphur enzyme (pp 891-896)

[7] Real-space observation of a two-dimensional skyrmion crystal (pp 901-904; N&V)

[8] Fine-tuning of pre-balanced excitation and inhibition during auditory cortical development (pp 927-937)

[9] Developmental sensory experience balances cortical excitation and inhibition (pp 932-936)

[10] TLR recognition of self nucleic acids hampers glucocorticoid activity in lupus (pp 937-941)

[11]TFIIA and the transactivator Rap1 cooperate to commit TFIID for transcription initiation (pp 956-960)

ADVANCE ONLINE PUBLICATION

*This paper will be published electronically on Nature's website on 16 June at 1800 London time / 1300 US Eastern time (which is also when the embargo lifts) as part of our AOP (ahead of print) programme. Although we have included it on this release to avoid multiple mailings it will not appear in print on 17 June, but at a later date. *

[12] Members of the Histone H3 Lysine 4 Trimethylation Complex Regulate Lifespan in a Germline-dependent Manner in C. elegans
DOI: 10.1038/nature09195

GEOGRAPHICAL LISTING OF AUTHORS…

The following list of places refers to the whereabouts of authors on the papers numbered in this release. For example, London: 4 - this means that on paper number four, there will be at least one author affiliated to an institute or company in London. 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 Aries: 4

AUSTRALIA
Cairns: 1
St Leonards: 1
Toowoomba: 1
Weston Creek: 1

CHINA
Guangzhou: 8

FRANCE
Illkirch: 11

GERMANY
Berlin: 8, 9
Heidelberg: 3
Mainz: 5

JAPAN
Tokyo: 7
Tsukuba: 7
Wako: 7

KOREA
Suwon: 7

MEXICO
Baja California: 1

NEW ZEALAND
Lake Tekapo: 1

NICARAGUA
Managua: 1

SOUTH AFRICA
Cape Town: 1

SPAIN
Barcelona: 4

UNITED KINGDOM
London: 2
Southampton: 2

UNITED STATES OF AMERICA

Arizona
Flagstaff: 1

California
Berkeley: 10
La Jolla: 3
Los Angeles: 8
Moffett Field: 1
San Francisco: 3, 9
Santa Barbara: 1
Santa Cruz: 1
Stanford: 12

District of Columbia
Washington: 1

Hawaii
Hilo: 1
Pearl City: 1

Louisiana
Baton Rouge: 5

Maryland
Bethesda: 3
Rockville: 10
Silver Springs: 5

Massachusetts
Boston: 3
Brookline: 1
Cambridge: 1, 3
Westford: 1
Williamstown: 1

Nebraska
Lincoln: 1

New Mexico
Socorro: 1

New York
Ithaca: 6
Manhasset: 3
New York: 9

North Carolina
Research Triangle Park: 5

Pennsylvania
University Park: 6

Texas
Brownsville: 1
Dallas: 10

Tennessee
Nashville: 11

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E-mail: [email protected]

From Japan, Korea, China, Singapore and Taiwan
Mika Nakano, Nature Tokyo
Tel: +81 3 3267 8751
E-mail: [email protected]

From the UK
Rebecca Walton, Nature, London
Tel: +44 20 7843 4502
E-mail: [email protected]

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Published: 16 Jun 2010

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