June 2011 Volume 43 Number 6, pp 501 - 611
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EDITORIAL
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Standard cooperating procedures p501
doi:10.1038/ng.853
Community review of proposed standards is a good strategy to broaden
consensus on ways to conduct principled, ethical and efficient
research. We are pleased to welcome new partners for our Nature
Precedings Data Standards initiative and suggest other standards
that could be usefully presented as citable preprints.
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CORRESPONDENCE
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The role of a bioresource research impact factor as an incentive
to share human bioresources pp503 - 504
Anne Cambon-Thomsen et al.
doi:10.1038/ng.831
http://links.ealert.nature.com/ctt?kn=76&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
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NEWS AND VIEWS
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SOX2 and CHD7 cooperatively regulate human disease genes pp505 - 506
Janusz Puc and Michael G Rosenfeld
doi:10.1038/ng.843
A new study reveals that the HMG-box transcription factor SOX2 coupled
with the chromatin remodeling helicase CHD7 cooperatively regulate
target genes that are essential during neural stem cell development.
Notably, this complex controls the expression of several disease-associated
genes, suggesting a possible mechanistic connection between five seemingly
unrelated human genetic disorders.
http://links.ealert.nature.com/ctt?kn=83&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Conducting the metabolic syndrome orchestra pp506 - 508
Mete Civelek and Aldons J Lusis
doi:10.1038/ng.842
Genetic and gene expression studies have suggested an important role
for KLF14 in metabolic disease. A new study now identifies a network
of genes whose expression is associated with KLF14 variation in trans,
providing a framework for understanding how KLF14 influences disease risk.
http://links.ealert.nature.com/ctt?kn=94&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
New modifier loci in cystic fibrosis pp508 - 509
Heiko Witt
doi:10.1038/ng.844
A genome-wide association study has identified two new loci modifying
pulmonary disease severity in cystic fibrosis. Although this data
offers clues to pathways influencing pulmonary function, the underlying
genes and mechanisms remain to be elucidated.
http://links.ealert.nature.com/ctt?kn=98&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
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RESEARCH HIGHLIGHTS
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Research highlights p511
doi:10.1038/ng.850
http://links.ealert.nature.com/ctt?kn=96&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
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PERSPECTIVE
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Principles for the post-GWAS functional characterization of cancer
risk loci pp513 - 518
Matthew L Freedman et al.
doi:10.1038/ng.840
http://links.ealert.nature.com/ctt?kn=93&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
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ANALYSIS
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Genome partitioning of genetic variation for complex traits using
common SNPs pp519 - 525
Jian Yang et al.
doi:10.1038/ng.823
Peter Visscher and colleagues report an analysis to partition the
genetic variation for several complex traits onto chromosome segments
and find that the variation explained is approximately proportional
to the total length of genes included within a chromosome segment.
They estimate that ~45%, ~17%, ~25% and ~21% of the phenotypic
variation, respectively, for height, body mass index, von Willebrand
factor and QT interval is tagged by common SNPs, and they partition
this variation by chromosome and chromosome segments.
Abstract: http://links.ealert.nature.com/ctt?kn=5&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=86&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
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BRIEF COMMUNICATION
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Mutations in CEP57 cause mosaic variegated aneuploidy syndrome pp527 - 529
Katie Snape et al.
doi:10.1038/ng.822
Nazneen Rahman and colleagues show that biallelic, loss-of-function
mutations in CEP57 cause a constitutional mosaic aneuploidy syndrome.
These findings show that CEP57 function is crucial for maintaining
correct chromosomal number during cell division.
Abstract: http://links.ealert.nature.com/ctt?kn=1&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=117&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
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ARTICLES
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Meta-analysis of genome-wide association studies identifies common
variants associated with blood pressure variation in east Asians pp531 - 538
Norihiro Kato et al.
doi:10.1038/ng.834
Norihiro Kato and colleagues perform a meta-analysis of genome-wide
association studies to identify common variants associated with blood
pressure variation in east Asians. They identify five new genome-wide
significant signals and replicate seven loci previously discovered
in populations of European ancestry.
Abstract: http://links.ealert.nature.com/ctt?kn=2&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=122&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Genome-wide association and linkage identify modifier loci of lung disease
severity in cystic fibrosis at 11p13 and 20q13.2 pp539 - 546
Fred A Wright et al.
doi:10.1038/ng.838
Garry Cutting and colleagues report a genome-wide association and linkage
study for loci that affect lung disease severity in cystic fibrosis.
They identify two loci that influence lung function in individuals with
cystic fibrosis.
Abstract: http://links.ealert.nature.com/ctt?kn=32&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=95&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Complex interactions between genes controlling trafficking in primary
cilia pp547 - 553
Polloneal Jymmiel R Ocbina, Jonathan T Eggenschwiler, Ivan Moskowitz
and Kathryn V Anderson
doi:10.1038/ng.832
Kathryn Anderson and colleagues use mouse genetics to define unexpected
relationships between the retrograde ciliary motor gene Dync2h1 and other
genes required for trafficking in primary cilia. Their findings argue
that the mutant phenotypes in these models result from defects in cilia
architecture rather than direct roles in signaling.
Abstract: http://links.ealert.nature.com/ctt?kn=31&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=101&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
General properties of transcriptional time series in Escherichia coli pp554 - 560
Lok-hang So et al.
doi:10.1038/ng.821
Ido Golding and colleagues examine transcriptional time series in Escherichia coli,
characterizing mRNA copy number statistics for 20 promoters at single
transcript resolution. They find that the degree of burstiness depends
primarily on the level of gene expression.
Abstract: http://links.ealert.nature.com/ctt?kn=34&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=46&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
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LETTERS
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Identification of an imprinted master trans regulator at the KLF14 locus
related to multiple metabolic phenotypes pp561 - 564
Kerrin S Small et al.
doi:10.1038/ng.833
Tim Spector, Mark McCarthy and colleagues show that an imprinted cis-acting
regulatory variant of KLF14 previously associated with type 2 diabetes and
HDL-cholesterol levels acts as a master trans regulator of adipose gene
expression. The study provides a framework for understanding the effects
of KLF14 on disease risk.
Abstract: http://links.ealert.nature.com/ctt?kn=33&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=131&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
A genome-wide association study of metabolic traits in human urine pp565 - 569
Karsten Suhre et al.
doi:10.1038/ng.837
Karsten Suhre and colleagues report a genome-wide association study of
metabolic traits in human urine, using NMR spectrometry to measure 59
metabolites in urine from participants. They identify five loci influencing
urine metabolite levels and point to a missense variant in AGXT2 as the
likely cause of hyper-[beta]-aminoisobutyric aciduria, a common inborn
error of metabolism.
Abstract: http://links.ealert.nature.com/ctt?kn=24&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=48&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Genome-wide association study of prostate cancer in men of African ancestry
identifies a susceptibility locus at 17q21 pp570 - 573
Christopher A Haiman et al.
doi:10.1038/ng.839
Christopher Haiman and colleagues report a genome-wide association study for
prostate cancer in African-American males drawn from 11 epidemiological studies
of prostate cancer, with replication including individuals of African ancestry
from 10 additional studies worldwide. They identify a new susceptibility locus
on chromosome 17q21, for which the risk allele shows a higher frequency in men
of African ancestry than in other populations. This may explain some of the
increased incidence of prostate cancer in men of African ancestry.
Abstract: http://links.ealert.nature.com/ctt?kn=25&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=42&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Genome-wide association study identifies susceptibility loci for open angle
glaucoma at TMCO1 and CDKN2B-AS1 pp574 - 578
Kathryn P Burdon et al.
doi:10.1038/ng.824
Jamie Craig and colleagues report a genome-wide association study for
advanced open angle glaucoma (OAG). They identify variants near TMCO1
and in CDKN2B-AS1 associated with OAG and show retinal expression of
genes at both loci.
Abstract: http://links.ealert.nature.com/ctt?kn=26&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=62&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Alteration of the serine protease PRSS56 causes angle-closure glaucoma in
mice and posterior microphthalmia in humans and mice pp579 - 584
K Saidas Nair et al.
doi:10.1038/ng.813
Simon John and Mounira Hmani-Aifa and colleagues show that mutation of the
serine protease gene Prss56 causes elevated intraocular pressure and angle
closure glaucoma in mice. They also identified PRSS56 mutations that cause
posterior microphthalmia in humans.
Abstract: http://links.ealert.nature.com/ctt?kn=20&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=64&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Exome sequencing in sporadic autism spectrum disorders identifies severe
de novo mutations pp585 - 589
Brian J O'Roak et al.
doi:10.1038/ng.835
Evan Eichler, Jay Shendure and colleagues sequenced the exomes of 20 sporadic
cases of autism spectrum disorder and their unaffected parents. They identified
potentially causative de novo mutations in four cases, including a frameshift in
FOXP1, a splice-site mutation in GRIN2B and missense variants in SCN1A and LAMC3.
Abstract: http://links.ealert.nature.com/ctt?kn=21&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=54&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Recessive LAMC3 mutations cause malformations of occipital cortical
development pp590 - 594
Tanyeri Barak et al.
doi:10.1038/ng.836
Murat Gunel and colleagues report the identification of mutations in the laminin
[gamma]3 gene that cause complex bilateral occipital cortical gyration
abnormalities in humans.
Abstract: http://links.ealert.nature.com/ctt?kn=22&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=58&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and
hearing loss pp595 - 600
Christopher J Klein et al.
doi:10.1038/ng.830
Christopher Klein and colleagues report that DNMT1 is disrupted in hereditary
sensory neuropathy with dementia and hearing loss. The mutations lead to
reduced methyltransferase activity, leading to global hypomethylation and
site-specific hypermethylation.
Abstract: http://links.ealert.nature.com/ctt?kn=23&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=13&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes pp601 - 606
Audrey Putoux et al.
doi:10.1038/ng.826
Tania Attie-Bitach and colleagues report that biallelic mutations in KIF7, a
component of the Hedgehog signaling pathway, cause hydrolethalus and acrocallosal
syndromes. They also present evidence that heterozygous KIF7 mutations
contribute to the allelic load and phenotypic spectrum of other cilia disorders.
Abstract: http://links.ealert.nature.com/ctt?kn=124&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=10&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Sox2 cooperates with Chd7 to regulate genes that are mutated in human
syndromes pp607 - 611
Erik Engelen et al.
doi:10.1038/ng.825
Raymond Poot and colleagues report that Chd7, a chromatin remodeler
associated with CHARGE syndrome, and Sox2, a transcription factor
associated with an anopthalmia syndrome, physically interact, have
overlapping binding sites and regulate a set of common target genes.
Abstract: http://links.ealert.nature.com/ctt?kn=125&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=80&ms=MzY2NTUzNTMS1&r=MTc2NTYxNjY4OQS2&b=2&j=MTAyNDQ2NDE3S0&mt=1&rt=0
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