Epistasis unravelled in Bardet-Biedl syndrome; Viruses need to make mistakes to better infect hosts; Potholes common in the human genome; A cracked mirror in autistic children; Addicted to love

NATURE AND THE NATURE RESEARCH JOURNALS PRESS RELEASE - For papers that will be published online on 4 December 2005


For papers that will be published online on 4 December 2005

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

This press release contains:
* Summaries of newsworthy papers:
* Epistasis unravelled in Bardet-Biedl syndrome - Nature
* Viruses need to make mistakes to better infect hosts - Nature
* Potholes common in the human genome - Nature Genetics
* A cracked mirror in autistic children - Nature Neuroscience
* Addicted to love - Nature Neuroscience
* Mention of papers to be published at the same time with the same embargo
* Geographical listing of authors

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[1] Epistasis unravelled in Bardet-Biedl syndrome

DOI: 10.1038/nature04370

Geneticists have long been interested in a phenomenon called epistasis,
where two different genes interact to suppress or enhance one another's
effects. But deciphering the exact sequences that interact in this way has
proved a tricky task. Now scientists have succeeded in demonstrating and
dissecting epistasis in Bardet-Biedl syndrome (BBS), an illness often
characterized by obesity and learning deficits. The severity of the symptoms
varies dramatically among patients with this genetic disorder.
In an article appearing online in Nature, Nicholas Katsanis and his
colleagues offer new clues about how and why BBS affects people to different
degrees. The team has found that a sequence called MGC1203 interacts with
other molecules known to be mutated in BBS. The scientists screened patients
with BBS and compared them to control subjects, and found that the former
were much more likely to carry a mutation in MGC1203. The researchers also
found that, in at least three affected families, the co-incidence of the
mutation in MGC1203 with mutations in other BBS genes lead to a more severe
form of the disease. But mutations in MGC1203 alone are unlikely to cause
the illness. Further evidence from engineered zebrafish supported the idea
that MGC1203 has an epistatic effect on other BBS mutations. The findings
should help medical experts to better understand disorders that involve
interactions between different genes.

Author contact:
Nicholas Katsanis (Johns Hopkins University, Baltimore, MD, USA)
Tel: +1 410 502 6660, E-mail: [email protected]

[2] Viruses need to make mistakes to better infect hosts

DOI: 10.1038/nature04388

Certain (RNA) viruses that copy their genome too accurately are less
infectious than normal viruses, researchers report online this week in
Nature. This proves that viruses need to make a certain number of mistakes
when copying their genome. Raul Andino and colleagues also show that the
infectiousness of a virus is not determined by a single strain. Instead, a
virus exists in its host as a group of related sequences or variants. These
variants cooperate and need a certain degree of diversity to adapt to
different conditions in the infected host, the researchers say.
The team isolated a poliovirus that makes more exact copies of its genome
than normal viruses, and found that it was less virulent in infected mice.
When the researchers used a chemical to reintroduce errors in the poliovirus
genome, the original virulence of the virus was restored.
These results have implications for the development of antiviral drugs that
introduce errors into the genome. Such drugs work because too many errors in
a virus genome are just as bad as too few. However, viruses resistant to
this type of drug typically make too few errors to start with. On the basis
of their research, the authors suggest that such drug-resistant viruses
would be less virulent and therefore more susceptible to other types of
antiviral drugs then normal viruses.

Author contact:
Raul Andino (University of California at San Francisco, CA, USA)
Tel: +1 415 502 6358, E-mail: [email protected]

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

[3] Rapid developmental switch in the mechanisms driving early cortical
columnar networks
DOI: 10.1038/nature04264

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

[4]-[6] Potholes common in the human genome

[4] DOI: 10.1038/ng1697 &
[5] DOI: 10.1038/ng1695 &
[6] DOI: 10.1038/ng1696

Three new studies published in the January issue of Nature Genetics
highlight the dramatic and very common ways in which the genomes of
individual people can differ from one another. Just as humans differ from
one another in height, eye color and susceptibility to disease, the
underlying genes responsible for these traits differ between individuals.
The current studies characterize variation related to the number of times a
genetic region is repeated and deletions that are present throughout the
Jonathan Pritchard and colleagues followed the inheritance of DNA
variants called polymorphic deletions in several hundred healthy people,
developing a technique for following these previously invisible elements of
the human genome. Kelly Frazer and colleagues conclude from their parallel
study that many of the deletions are ancient and shared between people from
three major continental ancestry groups. Finally, David Altshuler and
colleagues found deletions near to several hundred genes in their study, as
well as ten genes with deletions that may directly affect their function.
The three groups hope that their discoveries will aid in the
understanding of the way that gene variants affect the risk of a range of
common and complex human diseases.

Author contact:
Dr Jonathan Pritchard (University of Chicago, IL, USA)
Tel: +1 773 834 5248, Email: [email protected]
<mailto:[email protected]> - paper no: [4]

Dr Kelly Frazer (Perlegen Sciences, Inc., Mountain View, CA, USA)
Tel: +1 650 625 4502, Email: [email protected]
<mailto:[email protected]> - paper no: [5]

Dr David Altshuler (Harvard University and the Broad Institute, Cambridge,
MA, USA) Tel: +1 617 726 5940, Email: [email protected]
<mailto:[email protected]> - paper no: [6]

Additional contact for comment on papers:
Dr Evan Eichler (University of Washington, Seattle, USA)
Tel: +1 206 543 9526, Email: [email protected]
<mailto:[email protected]>

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

[7] A cracked mirror in autistic children

DOI: 10.1038/nn1611

Autistic children have less activation in a brain area containing neurons
that are involved in understanding others' state of mind, reports a new
study in the January issue of Nature Neuroscience. Abnormal activity in
these neurons, called 'mirror neurons', may therefore underlie some of the
social deficits found in autism.
Autism is a developmental disorder that affects a person's ability
to communicate with others and to respond appropriately to environmental
cues. Mirror neurons fire both when a person observes someone performing an
act and when they perform the same act themselves - suggesting that the
activity of these neurons may be responsible for understanding others' state
of mind, which is crucial for social communication. Mirella Dapretto and
colleagues studied the brain activity patterns of children with autism as
the children either imitated facial gestures or passively watched facial
gestures. They found that the autistic children had lower activation in a
brain area containing mirror neurons - the inferior frontal gyrus pars
opercularis - both when watching and imitating facial gestures. The degree
of activation of the mirror neurons correlated with measures of social
impairment - the lower the activation, the stronger the impairment.

Author contact:
Mirella Dapretto (University of California, Los Angeles, CA, USA)
Tel: +1 310 206 2960; E-mail: [email protected]

[8] Addicted to love

DOI: 10.1038/nn1613

Prairie voles form long-lasting monogamous bonds with their mating partners.
The neurotransmitter dopamine, known for its function in reward-related
learning, is important for both the initial formation of such a pair bond
and for its maintenance, reports a study in the January issue of Nature
Pair bonds form after a single mating encounter. Brandon Aragona and
colleagues found that blocking the activity of a receptor protein that is
activated by dopamine in a particular region of the brain prevented male
voles from developing strong preferences for their mate over female
strangers. After a pair bond has formed, male voles not only prefer the
company of their mate, they react to other available females with
aggression. The authors found that this selective aggression also involves
dopamine, but through a different type of dopamine receptor, whose levels
increase in pair-bonded male voles. The same signal dopamine acts both to
allow initial pair bond formation and to oppose the formation of pair bonds
with other females.

Author contact:
Brandon Aragona (Florida State University, Tallahassee, FL, USA)
Tel: +1 919 724 0022; E-mail: [email protected]

Additional contact for comment on paper:
David Self (University of Texas Southwestern Medical Center, Dallas, TX,
Tel: +1 214 648 1237; E-mail: [email protected]

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

[9] An N-terminal variant of Trpv1 channel is required for osmosensory
DOI: 10.1038/nn1614

[10] Prior experience enhances plasticity in adult visual cortex
DOI: 10.1038/nn1610


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

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

[11] Metal-free silicon-molecule-nanotube testbed and memory device
DOI: 10.1038/nmat1526

[12] Oxidation of magnesia-supported Pd-clusters leads to the ultimate limit
of epitaxy with a catalytic function
DOI: 10.1038/nmat1533

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

[13] TFE3 transcriptionally activates hepatic IRS-2, participates in insulin
signaling and ameliorates diabetes
DOI: 10.1038/nm1334

[14] Impaired flow-dependent control of vascular tone and remodeling in
P2X4-deficient mice
DOI: 10.1038/nm1338

[15] IL-13 signaling through the IL-13alpha2 receptor is involved in
induction of TGF-beta1 production and fibrosis
DOI: 10.1038/nm1332

[16] A crucial role of mitochondrial Hsp40 in preventing dilated
DOI: 10.1038/nm1327

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

[17] Conservation of gene expression signatures between zebrafish and human
liver tumors and tumor progression
DOI: 10.1038/nbt1169

[18] Production of a recombinant bacterial lipoprotein in higher plant
DOI: 10.1038/nbt1170

Nature IMMUNOLOGY (<http://www.nature.com/natureimmunology>)

[19] Mechanistic basis of pre-T cell receptor-mediated autonomous signaling
critical for thymocyte development
DOI: 10.1038/ni1290

[20] Src-like adaptor protein regulates TCR expression on thymocytes by
adapting the ubiquitin ligase c-Cbl to the TCR complex
DOI: 10.1038/ni1291

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

[21] The Ipl1-Aurora protein kinase activates the spindle checkpoint by
creating unattached kinetochores
DOI: 10.1038/ncb1341

[22] ATM- and cell cycle-dependent ATR regulation in response to DNA
double-strand breaks
DOI: 10.1038/ncb1337


[23] The essential mosquito-stage P25 and P28 proteins from Plasmodium form
tile-like triangular prisms
DOI: 10.1038/nsmb1024

[24] RNA emerging from the active site of RNA polymerase II interacts with
the Rpb7 subunit
DOI: 10.1038/nsmb1026

[25] Dichotomous but stringent substrate selection by the dual-function Cdk7
complex revealed by chemical genetics
DOI: 10.1038/nsmb1028

[26] Lactococcal bacteriophage p2 receptor-binding protein structure
suggests a common ancestor gene with bacterial and mammalian viruses
DOI: 10.1038/nsmb1029


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the PDF of the paper for full details.

Parkville: 23

Zwijnaarde: 26

Montreal: 9
Quebec City: 26
Toronto: 19

Copenhagen: 22

Jyvaskyla: 12

Clermont-Ferrand: 18
Marseille: 26

Freiburg: 12, 18
Mainz: 3
Martinsried near Munich: 10
Regensburg: 15
Wuerzburg: 18
Heidelberg: 18

New Delhi: 23

Akita: 14
Nihon: 14
Shizuoka: 19
Tokyo: 14
Tsu: 16
Tsukuba: 13
Yokohama: 19

Utrecht: 26
Vlaardigen: 26

Singapore City: 17

Zurich: 25

Cambridge: 4, 22
London: 1

Berkeley: 21
La Jolla: 16
Los Angeles: 7
Mountain Viwe: 5
San Francisco: 2, 20, 21, 25
Denevr: 20
Ridgefield: 16
Tallahassee: 8
Chicago: 4
Evanston: 20
Baltimore: 1
Bethesda: 8, 15
Rockville: 23
Boston: 6
Cambridge: 6
New York
New York: 20, 25
Cleveland: 24
Corvallis: 17
Philadelphia: 19
University Park: 2
Nashville: 13
Houston: 1, 11
Seattle: 21


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

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

For media inquiries relating to editorial content/policy for the Nature
Research Journals, please contact the journals individually:

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Nature Cell Biology (London)
Bernd Pulverer
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Nature Chemical Biology (Boston)
Beatrice Chrystall
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Nature Genetics (New York)
Orli Bahcall
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Published: 04 Dec 2005

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