June 2010 Volume 42 Number 6, pp 467 - 549
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EDITORIAL
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Primary research on existing data p467
doi:10.1038/ng0610-467
Articles in the Analysis format report primary research carried out
on publications, datasets or research practices. We see Analyses as
way to generate new hypotheses, test data integrity and promote
research integration.
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CORRESPONDENCE
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Lack of support for association between the KIF1B rs10492972[C]
variant and multiple sclerosis pp469 - 470
doi:10.1038/ng0610-469
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Reply to "Lack of support for association between the KIF1B
rs10492972[C] variant and multiple sclerosis" pp470 - 471
Rogier Q Hintzen et al.
doi:10.1038/ng0610-470
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Reassessing evidence for a postnatal mitochondrial genetic bottleneck
pp471 - 472
David C Samuels, Passorn Wonnapinij, Lynsey M Cree and Patrick F Chinnery
doi:10.1038/ng0610-471
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Reply to "Reassessing evidence for a postnatal mitochondrial genetic
bottleneck" pp472 - 473
Timothy Wai and Eric A Shoubridge
doi:10.1038/ng0610-472
http://links.ealert.nature.com/ctt?kn=87&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
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NEWS AND VIEWS
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Shaping a better rice plant pp475 - 476
Nathan Springer
doi:10.1038/ng0610-475
Two studies describe how regulatory variation at the rice gene
OsSPL14 can lead to altered plant morphology and improve grain yield.
These studies support the possibility of improving rice yield through
changing plant architecture.
http://links.ealert.nature.com/ctt?kn=93&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Relics of selection in the mycobacterial genome pp476 - 478
Christopher M Sassetti and Eric J Rubin
doi:10.1038/ng0610-476
A new study reports the whole-genome sequences of 21 Mycobacterium
tuberculosis complex strains, selected to represent geographically
diverse isolates. Comparative genomic analyses identify surprising
conservation of epitopes recognized by human T cells.
http://links.ealert.nature.com/ctt?kn=86&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Another piece of the autism puzzle pp478 - 479
Matthew W State
doi:10.1038/ng0610-478
A new study has identified rare de novo mutations in SHANK2 in
individuals with autism and/or mental retardation. SHANK2 encodes a
scaffolding protein present in excitatory synapses. This finding
sheds some light on the pathophysiology of social and cognitive
disability.
http://links.ealert.nature.com/ctt?kn=85&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
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RESEARCH HIGHLIGHTS
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Research highlights p481
doi:10.1038/ng0610-481
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BRIEF COMMUNICATIONS
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
pp483 - 485
Alexander Hoischen et al.
doi:10.1038/ng.581
Joris Veltman and colleagues apply exome sequencing to identify
heterozygous de novo mutations in SETBP1 as the cause of
Schinzel-Giedion syndrome, a rare sporadic disorder characterized
by severe intellectual disability and multiple congenital
malformations.
Abstract: http://links.ealert.nature.com/ctt?kn=1&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=112&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause
nonsyndromic intellectual disability pp486 - 488
Cheryl Shoubridge et al.
doi:10.1038/ng.588
Cheryl Shoubridge and Jozef Gecz and colleagues report the
identification of mutations in IQSEC2, a guanine nucleotide
exchange factor for ARF GTPases, in individuals with non-syndromic
intellectual disability.
Abstract: http://links.ealert.nature.com/ctt?kn=2&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=105&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum
disorder and mental retardation pp489 - 491
Simone Berkel et al.
doi:10.1038/ng.589
Gudrun Rappold and colleagues report the identification of de novo
deletions in SHANK2 in two unrelated individuals. One individual was
diagnosed with autism spectrum disorder and the other with mental
retardation. The authors also identified a de novo nonsense mutation
in an individual diagnosed with autism spectrum disorder.
Abstract: http://links.ealert.nature.com/ctt?kn=29&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=69&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Variation in CDKN2A at 9p21.3 influences childhood acute
lymphoblastic leukemia risk pp492 - 494
Amy L Sherborne et al.
doi:10.1038/ng.585
Richard Houlston and colleagues report a new risk locus for childhood
acute lymphoblastic leukemia. The associated variant is located in
the CDKN2A gene at chromosome 9p21.
Abstract: http://links.ealert.nature.com/ctt?kn=28&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=97&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Variants within the immunoregulatory CBLB gene are associated with
multiple sclerosis pp495 - 497
Serena Sanna et al.
doi:10.1038/ng.584
Francesco Cucca and colleagues perform a genome-wide association
study for multiple sclerosis in Sardinians. The authors identify
variants within CBLB that are associated with MS.
Abstract: http://links.ealert.nature.com/ctt?kn=31&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=42&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
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ARTICLE
----------------------
Human T cell epitopes of Mycobacterium tuberculosis are
evolutionarily hyperconserved pp498 - 503
Inaki Comas et al.
doi:10.1038/ng.590
Sebastien Gagneux and colleagues report the genome sequences of 21
phylogeographically diverse Mycobacterium tuberculosis complex
strains. Analysis of the global genetic diversity of these strains
showed that most of the known human T cell epitopes were highly
conserved.
Abstract: http://links.ealert.nature.com/ctt?kn=30&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=84&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
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LETTERS
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Genome-wide association study identifies five new breast cancer
susceptibility loci pp504 - 507
Clare Turnbull et al.
doi:10.1038/ng.586
Douglas Easton and colleagues report a genome-wide association study
for breast cancer, identifying five new susceptibility loci.
Abstract: http://links.ealert.nature.com/ctt?kn=24&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=38&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Genome-wide association study meta-analysis identifies seven new
rheumatoid arthritis risk loci pp508 - 514
Eli A Stahl et al.
doi:10.1038/ng.582
Eli Stahl and colleagues report results of a genome-wide association
study meta-analysis and replication study for rheumatoid arthritis.
Their work identifies several new risk loci and highlights genetic
overlap with other autoimmune diseases.
Abstract: http://links.ealert.nature.com/ctt?kn=25&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=37&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
A regulatory variant in CCR6 is associated with rheumatoid arthritis
susceptibility pp515 - 519
Yuta Kochi et al.
doi:10.1038/ng.583
Yuta Kochi and colleagues identify a regulatory variant in CCR6
associated with susceptibility to rheumatoid arthritis. CCR6 encodes
a chemokine receptor expressed on a subset of helper T cells known
as Th17 cells, suggesting a possible role for CCR6 in Th17-driven
autoimmunity.
Abstract: http://links.ealert.nature.com/ctt?kn=26&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=62&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Genome-wide association study identifies variants at CSF1, OPTN and
TNFRSF11A as genetic risk factors for Paget's disease of bone
pp520 - 524
Omar M E Albagha et al.
doi:10.1038/ng.562
Stuart Ralston and colleagues report results of a genome-wide
association study for Paget's disease of bone. Their work identifies
common variants at three loci associated with risk of this disease.
Abstract: http://links.ealert.nature.com/ctt?kn=20&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=63&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
A genome-wide association study of cleft lip with and without cleft
palate identifies risk variants near MAFB and ABCA4 pp525 - 529
Terri H Beaty et al.
doi:10.1038/ng.580
Terri Beaty and colleagues report a genome-wide association study of
cleft lip with/without cleft palate. They identified variants near
MAFB and ABCA4 associated with risk of this birth defect in
case-parent trios of European and Asian ancestry.
Abstract: http://links.ealert.nature.com/ctt?kn=21&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=54&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Deletion of the protein tyrosine phosphatase gene PTPN2 in T-cell
acute lymphoblastic leukemia pp530 - 535
Maria Kleppe et al.
doi:10.1038/ng.587
Jan Cools and colleagues identify deletions in PTPN2 in T-cell acute
lymphoblastic leukemia. Inactivation of PTPN2 leads to an increase
in cell proliferation in mouse T-ALL cells.
Abstract: http://links.ealert.nature.com/ctt?kn=22&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=17&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Substitutions in woolly mammoth hemoglobin confer biochemical
properties adaptive for cold tolerance pp536 - 540
Kevin L Campbell et al.
doi:10.1038/ng.574
Kevin Campbell and colleagues isolate DNA from extinct woolly
mammoths and resurrect mammoth hemoglobin. The authors identify
three amino acid substitutions that reduce the energetic
requirements of heme deoxygenation, which may have played a
role in the adaptation of the woolly mammoth from tropical to
arctic environments.
Abstract: http://links.ealert.nature.com/ctt?kn=23&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=12&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Regulation of OsSPL14 by OsmiR156 defines ideal plant architecture
in rice pp541 - 544
Yongqing Jiao et al.
doi:10.1038/ng.591
Jiayang Li and colleagues report the positional cloning of the Ideal
Plant Architecture (IPA1) QTL in rice. The gene OsSPL14 underlies the
IPA1 locus and regulates plant architecture and enhances rice grain
yield.
Abstract: http://links.ealert.nature.com/ctt?kn=117&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=90&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
OsSPL14 promotes panicle branching and higher grain productivity in
rice pp545 - 549
Kotaro Miura et al.
doi:10.1038/ng.592
Motoyuki Ashikari and colleagues report the identification of OsSPL14
as a gene that regulates plant architecture in rice. OsSPL14 is
regulated by miRNA156, promotes panicle branching and enhances rice
grain yield.
Abstract: http://links.ealert.nature.com/ctt?kn=118&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
Article: http://links.ealert.nature.com/ctt?kn=91&m=34921433&r=MTc2NTYxNjY4OQS2&b=2&j=NzQ1NDM1NTES1&mt=1&rt=0
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