New sex determination gene identified

Summaries of newsworthy papers from Nature Journals include New sex determination gene identified - Nature Genetics, Towards better anti-epileptic drugs - Nature Neuroscience, We have no blue bananas - Nature Neuroscience


For papers that will be published online on 15 October 2006

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This press release contains:

* Summaries of newsworthy papers:

New sex determination gene identified - Nature Genetics

Towards better anti-epileptic drugs - Nature Neuroscience

We have no blue bananas - Nature Neuroscience

* 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 sex determination gene identified

DOI: 10.1038/ng1907

Mutations in a gene called RSPO1 result in female to male sex reversal, according to a study to be published in the November issue of Nature Genetics.

Giovanna Camerino and colleagues studied an Italian family in which four brothers were identified as having two X chromosomes - the female complement of sex chromosomes. Such female to male sex reversal is extremely rare, and is usually accompanied by translocation of the male sex-determining gene SRY from the Y chromosome to one of the other chromosomes. In this family, however, the SRY gene is not present, suggesting another genetic cause of sex reversal.

The authors identified mutations in RSPO1 - which encodes R-spondin1, a member of a small family of proteins that are secreted by cells - in all of the brothers. This study represents the first time that the mutation of a single gene has been shown to cause complete female to male sex reversal in the absence of SRY, and shows that RSPO1 is also an essential ovary-determining gene.

Author contact:
Giovanna Camerino (University of Pavia, Italy)
Tel: +39 0382 507736; E-mail: [email protected]

Other papers from Nature Genetics to be published online at the same time and with the same embargo:

[2] The gene encoding R-spondin4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

DOI: 10.1038/ng1883

[3] Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch
DOI: 10.1038/ng1894

[4] Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)
DOI: 10.1038/ng1903

[5] Essential role of Jun family transcription factors in PU.1 knockdown-induced leukemic stem cells
DOI: 10.1038/ng1898

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

[6] Towards better anti-epileptic drugs

DOI: 10.1038/nn1791

A completely new way of suppressing epileptic seizures in rats is reported in a study to be published in the November issue of Nature Neuroscience. The results of the study suggest that glycolysis inhibitors offer a potential new treatment strategy for epilepsy.

Epilepsy affects 1% of people worldwide. Currently available drugs, however, fail to control seizures in a third of patients. Avtar Roopra and colleagues were inspired by the fact that, in some patients, severe epilepsy is improved by a diet that completely avoids all carbohydrates. The ‘ketogenic’ diet has been known for decades, but no one understood why or how it worked. Glycolysis, the process by which carbohydrates are broken down, is inhibited in patients as a result of the diet. The authors treated epileptic rats with an inhibitor of glycolysis, and report that this dramatically reduced the number and severity of seizures in the animals.

Roopra and colleagues suspected that one of the glycolysis end products might increase nerve cell excitability; inhibiting glycolysis would therefore reduce nerve cell excitability and the likelihood of seizures. They found that one product of glycolysis, NADH, increases the expression of certain pro-excitability genes in nerve cells, and inhibiting glycolysis reduced the expression of these genes.

Author contact:

Avtar Roopra (University of Wisconsin-Madison, Madison, WI, USA)
Tel: +1 608 265 9072; E-mail: [email protected]

[7] We have no blue bananas

DOI: 10.1038/nn1794

Color perception depends not only on the pigmentation of an object, but also on our knowledge of what the object is supposed to look like, reports a paper in the November issue of Nature Neuroscience.

Using images of common fruits and vegetables, whose prototypical colors are well known, Karl Gegenfurtner and colleagues allowed observers to manipulate the color content of a given piece of fruit. Observers were asked to alter the color information in each image so as to make the fruits appear to lack color. The results show that the observers’ preconceptions about the fruit’s natural color influenced their perception of its actual color. For example, to make a banana appear black and white, subjects adjusted it to be slightly blue, suggesting that they were compensating for a perception that the banana was yellow. Similarly, for a head of lettuce to appear black and white, it had to be slightly red. These results suggest that there is a memory contribution to the perceived color that has to be cancelled out by a physical contribution in the opposite direction.

These findings suggest that our perception of object color is the combined product of actual sensory data and the brain’s expectations about what color the object should be. Information derived from the wavelengths of reflected light is combined with our memory of an object’s normal color to produce the colors that we see.

Author contact:

Karl Gegenfurtner (Justus-Liebig-University Giessen, Germany)

Tel: +49 641 992 6100; E-mail: [email protected]

Other papers from Nature Neuroscience to be published online at the same time and with the same embargo:

[8] Phase-locking of hippocampal interneurons’ membrane potential to neocortical up-down states
DOI: 10.1038/nn1788

[9] How MT cells analyze the motion of visual patterns
DOI: 10.1038/nn1786

[10] Activation of a presynaptic glutamate transporter regulates synaptic transmission through electrical signaling
DOI: 10.1038/nn1793


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

Nature (<>)

[11] Structure of C3b in complex with CRIg gives insights into regulation of complement activation

DOI: 10.1038/nature05263

[12] Structure of C3b reveals conformational changes that underlie complement activity

DOI: 10.1038/nature05172

[13] The structure of complement C3b

DOI: 10.1038/nature05258

[14] Visualization of transient encounter complexes in protein-protein association

DOI: 10.1038/nature05201

[15] Complete crystallographic analysis of the dynamics of CCA addition

DOI: 10.1038/nature05204

[16] Real-time observation of trigger factor function on translating ribosomes

DOI: 10.1038/nature05225


[17] Electrostatic couplings in OmpA ion-channel gating suggest a mechanism for pore opening
DOI: 10.1038/nchembio827

Nature PHYSICS ( <>)

[18] Tunable refraction and reflection of self-confined light beams
DOI: 10.1038/nphys427

[19] Measuring and controlling the birth of attosecond XUV pulses
DOI: 10.1038/nphys434


[20] High-performance transparent inorganic-organic hybrid thin-film-type transistors
DOI: 10.1038/nmat1755

[21] Effects of hydration on molecular junction transport
DOI: 10.1038/nmat1754

[22] Computational high-throughput screening of electrocatalytic materials for hydrogen evolution
DOI: 10.1038/nmat1752

[23] Phase inversion of particle-stabilized materials from foams to dry water
DOI: 10.1038/nmat1757

[24] Making metallic glasses plastic by control of residual stress
DOI: 10.1038/nmat1758

Nature MEDICINE (<>)

[25] Interleukin-10 determines viral clearance or persistence in vivo
DOI: 10.1038/nm1492

Nature IMMUNOLOGY (<>)

[26] Interface-disrupting amino acids establish specificity between T cell receptors and complexes of major histocompatibility complex and peptide

DOI: 10.1038/ni1401


[27] G-beta-gamma-s and the Ras binding domain of p110gamma are both important regulators of PI3Kgamma signalling in neutrophils

DOI: 10.1038/ncb1494

[28] Input from Ras is required for maximal PI(3)K signalling in Drosophila
DOI: 10.1038/ncb1493

[29] CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat proteins and regulates histone methylation
DOI: 10.1038/ncb1490

[30] TRAPPII subunits are required for the specificity switch of a Ypt-Rab GEF
DOI: 10.1038/ncb1489


[31] Structural and biochemical basis for misfolded RNA recognition by the Ro autoantigen
DOI: 10.1038/nsmb1156

[32] Identification of the FtsK sequence-recognition domain
DOI: 10.1038/nsmb1157

[33] Oriented loading of FtsK on KOPS
DOI: 10.1038/nsmb1159



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.

Ottawa: 19
Varennes: 19

Beijing: 24
Hong Kong: 29
Shenzen: 29

Kongens Lyngby: 22

Turku: 2

Gif-sur-Yvette : 33
Grenoble: 12
Nice: 1
Paris: 33
Toulouse: 33

Berlin: 2, 5
Dusseldorf: 5
Giessen: 7
Goettingen: 5
Heidelberg: 8
Martinsried: 16

Dublin: 2

Pavia: 1
Rome: 1, 18

Nagasaki: 4
Saitama: 15
Tsukuba: 15
Yokohama: 15

Rotterdam: 5
Utrecht: 12

Bergen: 10

Karachi: 6

Cape Town: 13

Zurich: 9

Istanbul: 5

Babraham: 27
Birmingham: 2
Bristol: 2
Cambridge: 24, 27Coventry: 21
Hull: 23
London: 2, 28
Manchester: 3
Oxford: 16
Southampton: 18

South Birmingham: 13
Berkeley: 32
La Jolla: 25, 30
San Francisco: 5, 11
Santa Barbara: 33
Stanford: 9
Denver: 26
New Haven: 29, 31
District of Columbia
Washington: 21
Chicago: 30
Evanston: 20, 21
North Chicago: 31
Iowa City: 4
Bethesda: 14
Boston: 5
Cambridge: 9, 27
St Louis: 4
New York
New York: 2, 9
Philadelphia: 12
Rhode Island
Providence: 8
Nashville: 4
Galveston: 16
Houston: 21, 29
Charlottesville: 17
Manassas: 21
Madison: 6


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

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

Nature Materials (London)
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Nature Medicine (New York)
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Nature Neuroscience (New York)
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Published: 15 Oct 2006

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