April 2011 Volume 43 Number 4, pp 279 - 388
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----------------------
EDITORIAL
----------------------
Crowdsourcing human mutations p279
doi:10.1038/ng0411-279
The first Human Variome microattribution review shows that data citation
and publication credit can work as incentives for systematic curation
of gene variant and phenotype data. Analysis of the formal assertions
in both databases and journal articles argues for better separation of
data structures from narrative so that they can better support one
another to communicate meaning.
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COMMENTARY
----------------------
The value of data pp281 - 283
Barend Mons et al.
doi:10.1038/ng0411-281
Abstract: http://links.mkt41.net/ctt?kn=26&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
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BOOK REVIEW
----------------------
Personal genomics to the people pp285 - 286
Maynard Olson reviews Here is a Human Being: At the Dawn of Personal
Genomics by Misha Angrist and The $1,000 Genome: The Revolution in
DNA Sequencing and the New Era of Personalized Medicine by Kevin Davies
doi:10.1038/ng0411-285
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----------------------
NEWS AND VIEWS
----------------------
Next-generation association studies for complex traits pp287 - 288
Eleftheria Zeggini
doi:10.1038/ng0411-287
A new study successfully applies complementary whole-genome sequencing and
imputation approaches to establish robust disease associations in an
isolated population. This strategy is poised to help elucidate the role
of variants at the low end of the allele frequency spectrum in the genetic
architecture of complex traits.
http://links.mkt41.net/ctt?kn=100&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Stopping RNA interference at the seed pp288 - 289
John J Rossi
doi:10.1038/ng0411-288
MicroRNAs (miRNAs) regulate expression of more than one half of the genes
in the human genome. A study now reports a new method for selectively
silencing whole families of miRNAs, thus providing a new paradigm for
disease therapy.
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DNMT3A mutations in acute myeloid leukemia pp289 - 290
Mrinal Y Shah and Jonathan D Licht
doi:10.1038/ng0411-289
New studies reveal that 20% of individuals with acute myeloid leukemia
harbor somatic mutations in DNMT3A (encoding DNA methyltransferase 3A).
Although these leukemias have some gene expression and DNA methylation
changes, a direct link between mutant DNMT3A, epigenetic changes and
pathogenesis remains to be established.
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RESEARCH HIGHLIGHTS
----------------------
Research highlights p293
doi:10.1038/ng0411-293
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ANALYSIS
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Systematic documentation and analysis of human genetic variation in
hemoglobinopathies using the microattribution approach pp295 - 301
Belinda Giardine et al.
doi:10.1038/ng.785
George Patrinos and colleagues report the first implementation of
the microattribution approach to systematically document genetic
variation associated with a disease, applied here to hemoglobinopathies
and thalassemias. They developed a series of connected locus-specific
databases that document genotype and phenotype information for genetic
variation in 37 globin and erythroid protein genes in individuals with
globin disorders, with reciprocal attribution to data contributors.
Abstract: http://links.mkt41.net/ctt?kn=20&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
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----------------------
BRIEF COMMUNICATIONS
----------------------
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and
progressive bone loss pp303 - 305
Michael A Simpson et al.
doi:10.1038/ng.779
Richard Trembath and colleagues show that mutations in NOTCH2 cause
Hajdu-Cheney syndrome, a multisystem disorder marked by severe and
progressive bone loss. The mutations are predicted to result in
elevated NOTCH2 signaling.
Abstract: http://links.mkt41.net/ctt?kn=21&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
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Truncating mutations in the last exon of NOTCH2 cause a rare skeletal
disorder with osteoporosis pp306 - 308
Bertrand Isidor et al.
doi:10.1038/ng.778
Cedric Le Caignec and colleagues show that truncating mutations in
the last exon of NOTCH2 cause Hajdu-Cheney syndrome, a rare disorder
marked by facial anomalies, osteoporosis and multiple organ defects.
The mutations are predicted to result in an increase in NOTCH2 signaling.
Abstract: http://links.mkt41.net/ctt?kn=22&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
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----------------------
ARTICLES
----------------------
Exome sequencing identifies somatic mutations of DNA methyltransferase
gene DNMT3A in acute monocytic leukemia pp309 - 315
Xiao-Jing Yan et al.
doi:10.1038/ng.788
Zhu Chen, Sai-Juan Chen and colleagues report exome sequencing of acute
monocytic leukemia, a subtype of acute myeloid leukemia. They identified
somatic mutations of DNMT3A, which encodes a DNA methyltransferase,
in 20% of cases.
Abstract: http://links.mkt41.net/ctt?kn=23&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Article: http://links.mkt41.net/ctt?kn=99&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
A rare variant in MYH6 is associated with high risk of sick sinus
syndrome pp316 - 320
Hilma Holm et al.
doi:10.1038/ng.781
Hilma Holm et al. report a rare missense variant MYH6 that is associated
with a high risk of sick sinus syndrome in Icelanders. This heart
condition is found most often in elderly people and is the most
frequent reason a heart pacemaker is implanted.
Abstract: http://links.mkt41.net/ctt?kn=133&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Article: http://links.mkt41.net/ctt?kn=152&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Genome-wide association study identifies susceptibility loci for IgA
nephropathy pp321 - 327
Ali G Gharavi et al.
doi:10.1038/ng.787
Ali Gharavi, Rick Lifton and colleagues report a genome-wide association
study for IgA nephropathy, a major cause of kidney failure. They identify
five susceptibility loci.
Abstract: http://links.mkt41.net/ctt?kn=134&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Article: http://links.mkt41.net/ctt?kn=45&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
----------------------
LETTERS
----------------------
Genome-wide association study identifies 12 new susceptibility loci for
primary biliary cirrhosis pp329 - 332
George F Mells et al.
doi:10.1038/ng.789
Carl Anderson and colleagues report a genome-wide association study
identifying 13 new susceptibility loci for primary biliary cirrhosis,
a chronic autoimmune liver disease.
Abstract: http://links.mkt41.net/ctt?kn=135&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Article: http://links.mkt41.net/ctt?kn=42&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Large-scale association analysis identifies 13 new susceptibility loci
for coronary artery disease pp333 - 338
Heribert Schunkert et al.
doi:10.1038/ng.784
Heribert Schunkert and colleagues report a meta-analysis of 14 genome-wide
association studies of coronary disease (CAD) followed by replication in
additional cohorts. They confirm 10 previously associated loci and identify
13 loci newly associated with CAD.
Abstract: http://links.mkt41.net/ctt?kn=139&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Article: http://links.mkt41.net/ctt?kn=47&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
A genome-wide association study in Europeans and South Asians identifies
five new loci for coronary artery disease pp339 - 344
The Coronary Artery Disease (C4D) Genetics Consortium
doi:10.1038/ng.782
The Coronary Artery Disease Genetics Consortium report a meta-analysis
of genome-wide association studies for coronary artery disease (CAD)
in discovery and replication cohorts including both European and
South Asian studies. They identify five loci newly associated with CAD.
Abstract: http://links.mkt41.net/ctt?kn=138&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Article: http://links.mkt41.net/ctt?kn=37&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Genome-wide association identifies a susceptibility locus for coronary
artery disease in the Chinese Han population pp345 - 349
Fan Wang et al.
doi:10.1038/ng.783
Qing Wang and colleagues report a genome-wide association study for
coronary artery disease (CAD) in a Chinese Han population. They identify
a locus on chromosome 6p24.1 newly associated with CAD.
Abstract: http://links.mkt41.net/ctt?kn=141&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Article: http://links.mkt41.net/ctt?kn=65&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Mutations in ORC1, encoding the largest subunit of the origin recognition
complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin
syndrome pp350 - 355
Louise S Bicknell et al.
doi:10.1038/ng.776
Mark O'Driscoll, Andrew Jackson and colleagues report the identification
of mutations in ORC1 in individuals with microcephalic primordial dwarfism.
ORC1 encodes the largest subunit of the origin recognition complex.
Abstract: http://links.mkt41.net/ctt?kn=140&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Article: http://links.mkt41.net/ctt?kn=72&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Mutations in the pre-replication complex cause Meier-Gorlin syndrome pp356 - 359
Louise S Bicknell et al.
doi:10.1038/ng.775
Andrew Jackson, Ernie Bongers and colleagues report the identification of
mutations in five genes in individuals with Meier-Gorlin syndrome.
The five genes, ORC1, ORC4, ORC6, CDT1 and CDC6, all encode components of the pre-replication complex.
Abstract: http://links.mkt41.net/ctt?kn=143&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Article: http://links.mkt41.net/ctt?kn=59&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin
syndrome pp360 - 364
Duane L Guernsey et al.
doi:10.1038/ng.777
Mark Samuels and colleagues report the identification of mutations in ORC4,
which encodes a component of the origin recognition complex, in individuals
with Meier-Gorlin syndrome. The features of this syndrome include small stature,
small external ears and small or absent patellae.
Abstract: http://links.mkt41.net/ctt?kn=142&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Article: http://links.mkt41.net/ctt?kn=62&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Multiple self-healing squamous epithelioma is caused by a disease-specific
spectrum of mutations in TGFBR1 pp365 - 369
David R Goudie et al.
doi:10.1038/ng.780
Birgitte Lane and colleagues show that Ferguson-Smith disease, an autosomal
dominant skin cancer condition characterized by the development of multiple
self-healing tumors, is caused by a disease-specific spectrum of mutations in TGFBR1.
Abstract: http://links.mkt41.net/ctt?kn=147&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Article: http://links.mkt41.net/ctt?kn=12&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
----------------------
TECHNICAL REPORTS
----------------------
Silencing of microRNA families by seed-targeting tiny LNAs pp371 - 378
Susanna Obad et al.
doi:10.1038/ng.786
Sakari Kauppinen and colleagues report a method for silencing miRNA families
in vivo. They find that seed-targeting 8-mer LNA oligonucleotides, termed
tiny LNAs, can lead to long-term miRNA silencing in normal tissues and
breast tumors in mice.
Abstract: http://links.mkt41.net/ctt?kn=145&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Article: http://links.mkt41.net/ctt?kn=101&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Large-scale analysis of the regulatory architecture of the mouse genome with a
transposon-associated sensor pp379 - 386
Sandra Ruf et al.
doi:10.1038/ng.790
Francois Spitz and colleagues report GROMIT, a Sleeping Beauty transposon–based
system for mapping genetic regulatory architecture in mouse. GROMIT is a
regulatory sensor that responds to the activity of nearby enhancers.
Abstract: http://links.mkt41.net/ctt?kn=154&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Article: http://links.mkt41.net/ctt?kn=4&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
----------------------
ADDENDUM
----------------------
Addendum: Resequencing of 31 wild and cultivated soybean genomes identifies
patterns of genetic diversity and selection p387
Hon-Ming Lam et al.
doi:10.1038/ng0411-387
http://links.mkt41.net/ctt?kn=1&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
----------------------
ERRATUM
----------------------
Erratum: Genome-wide association identifies multiple ulcerative colitis
susceptibility loci p388
Dermot P B McGovern et al.
doi:10.1038/ng0411-388c
http://links.mkt41.net/ctt?kn=30&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
----------------------
CORRIGENDA
----------------------
Corrigendum: Genome-wide association study identifies new HLA class II
haplotypes strongly protective against narcolepsy p388
Hyun Hor et al.
doi:10.1038/ng0411-388a
http://links.mkt41.net/ctt?kn=33&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
Corrigendum: Twelve type 2 diabetes susceptibility loci identified through
large-scale association analysis p388
Benjamin F Voight et al.
doi:10.1038/ng0411-388b
http://links.mkt41.net/ctt?kn=24&m=36430929&r=MTc2NTYxNjY4OQS2&b=2&j=OTc4NjQ5NDgS1&mt=1&rt=0
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