Latest highlights

Advance online publication

Narcolepsy linked to T-cell receptor
Letter by Joachim Hallmayer et al.

Emmanuel Mignot and colleagues report that variants in the T-cell receptor alpha (TRA@) locus are strongly associated with narcolepsy. This is the first documented involvement of the TCR locus in human disease and will shed light on how HLA-TCR interactions contribute to organ-specific autoimmune targeting.

Advance online publication

BARD1 variants linked to neuroblastoma
Letter by Mario Capasso et al.

John Maris and colleagues report results of a genome-wide association and replication study for aggressive neuroblastoma. They show that common variants in BARD1 at 2q35 are strongly associated with aggressive forms of the disease.



Current issue

TMPRSS2-ERG and PTEN loss in prostate cancer
Letter by Brett Carver et al. Brief Communication by Jennifer King et al.

Two groups, led by Pier Paolo Pandolfi and Charles Sawyers, respectively, report that prostate-specific overexpression of ERG in transgenic mice results in no overt phenotype on its own but promotes progression of intraepithelial neoplasia to adenocarcinoma mediated by PI3-kinase pathway activation. Both groups report that human TMPRSS2-ERG–positive tumors are enriched for PTEN loss, suggesting that these two events cooperate in human prostate tumorigenesis.


Current issue

GWAS of quantitative traits in Asians
Article by Yoon Shin Cho et al.

Hyung-Lae Kim and colleagues report a genome-wide association study of quantitative traits of biomedical importance, including hypertension, obesity and type 2 diabetes, in Koreans. Although some loci were previously detected and validated in European populations, others may reflect the identification of new ancestry-specific susceptibility loci.


Current issue

Pol V recruits AGO4 to chromatin
Letter by Andrzej Wierzbicki et al.

Craig Pikaard and colleagues show that AGO4 is recruited to target loci through physical interactions with nascent RNA polymerase V transcripts. They further show that the SMC hinge-domain protein DMS3 functions in the assembly of Pol V transcription complexes.


Current issue

Causative mutations in XLMR
Article by Patrick Tarpey et al.

Michael Stratton and colleagues carry out a large-scale systematic sequencing of the majority of X-chromosome coding exons from 208 families with multiple individuals with mental retardation and a pattern of transmission compatible with X linkage in order to identify XLMR-causing mutations.



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