Volume 37 Issue 12, December 2005

Editorial

Mutual inspiration

Editorial 01 Dec 2005

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News & Views

Power tools for human genetics

Genome-wide association studies have the potential to identify systematically the contributions of common genetic variants to human disease, but the tools to carry out such studies have been incomplete. Assessments of the HapMap resource suggest that the tools are now in hand, but care is required in their use for study design, analysis and interpretation.

Leonid Kruglyak
News & Views 01 Dec 2005
Gaining insight into PTPN22 and autoimmunity

The protein tyrosine phosphatase PTPN22 (also called LYP) is the leading example of a genetic variant that confers risk of developing diverse human autoimmune diseases, including type 1 diabetes, rheumatoid arthritis, autoimmune thyroid disease and systemic lupus. A new study now shows that the PTPN22 risk-associated variant, Trp620, results in a gain of PTPN22 phosphatase activity in T cells, opening up new avenues for exploring disease mechanisms.

Peter K Gregersen
News & Views 01 Dec 2005
SILencing misbehaving proteins

Mutations in SIL1, which encodes a nucleotide exchange factor for the chaperone BiP, cause a progressive multisystem disorder that probably results from abnormal protein quality control in the endoplasmic reticulum.

Huda Y Zoghbi
News & Views 01 Dec 2005
Aging (not so) gracefully

Although the correlation between maternal age and meiotic nondisjunction in human oocytes is widely recognized, the underlying molecular defects are largely unknown. New evidence from mice lacking SMC1β suggests that high levels of chromosome mis-segregation in older oocytes may be due in part to deterioration of meiotic sister-chromatid cohesion during aging.

Sharon E Bickel
News & Views 01 Dec 2005
Touching base

News & Views 01 Dec 2005

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Research Highlights

Research Highlights

Research Highlights 01 Dec 2005

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Brief Communication

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Anna-Kaisa Anttonen
Ibrahim Mahjneh
Anna-Elina Lehesjoki
Brief Communication 13 Nov 2005
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Jan Senderek
Michael Krieger
Klaus Zerres
Brief Communication 13 Nov 2005
Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR

Daphne W Bell
Ira Gore
Daniel A Haber
Brief Communication 30 Oct 2005
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant

Torkel Vang
Mauro Congia
Nunzio Bottini
Brief Communication 06 Nov 2005
An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets

Eleftheria Zeggini
William Rayner
Mark I McCarthy
Brief Communication 30 Oct 2005

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Article

A genome-wide RNA interference screen in Drosophila melanogaster cells for new components of the Hh signaling pathway

Kent Nybakken
Steven A Vokes
Norbert Perrimon
Article 20 Nov 2005
Quantitative trait loci mapped to single-nucleotide resolution in yeast

Adam M Deutschbauer
Ronald W Davis
Article 06 Nov 2005

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Letter

Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect

Alienke J Monsuur
Paul I W de Bakker
Cisca Wijmenga
Letter 13 Nov 2005
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Martin Zenker
Julia Mayerle
André Reis
Letter 20 Nov 2005
SMC1β-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction

Craig A Hodges
Ekaterina Revenkova
Patricia A Hunt
Letter 30 Oct 2005
DICER-LIKE 4 is required for RNA interference and produces the 21-nucleotide small interfering RNA component of the plant cell-to-cell silencing signal

Patrice Dunoyer
Christophe Himber
Olivier Voinnet
Letter 06 Nov 2005
Sex-specific role of Drosophila melanogaster HP1 in regulating chromatin structure and gene transcription

Lu-Ping Liu
Jian-Quan Ni
Fang-Lin Sun
Letter 30 Oct 2005
Robust signals of coevolution of interacting residues in mammalian proteomes identified by phylogeny-aided structural analysis

Sun Shim Choi
Weimin Li
Bruce T Lahn
Letter 13 Nov 2005
Adaptive evolution of bacterial metabolic networks by horizontal gene transfer

Csaba Pál
Balázs Papp
Martin J Lercher
Letter 20 Nov 2005
Genomic buffering mitigates the effects of deleterious mutations in bacteria

Sophie Maisnier-Patin
John R Roth
Dan I Andersson
Letter 06 Nov 2005

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Erratum

Erratum: Integrating genotypic and expression data in a segregating mouse population to identify 5-lipoxygenase as a susceptibility gene for obesity and bone traits

M Mehrabian
H Allayee
E E Schadt
Erratum 01 Dec 2005

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Corrigendum

Correction: Corrigendum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

A J Ross
H May-Simera
P L Beales
Corrigendum 01 Dec 2005

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Volume 37 Issue 12, December 2005

Editorial

Mutual inspiration

News & Views

Power tools for human genetics

Gaining insight into PTPN22 and autoimmunity

SILencing misbehaving proteins

Aging (not so) gracefully

Touching base

Research Highlights

Research Highlights

Brief Communication

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR

Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant

An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets

Article

A genome-wide RNA interference screen in Drosophila melanogaster cells for new components of the Hh signaling pathway

Quantitative trait loci mapped to single-nucleotide resolution in yeast

Letter

Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

SMC1β-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction

DICER-LIKE 4 is required for RNA interference and produces the 21-nucleotide small interfering RNA component of the plant cell-to-cell silencing signal

Sex-specific role of Drosophila melanogaster HP1 in regulating chromatin structure and gene transcription

Robust signals of coevolution of interacting residues in mammalian proteomes identified by phylogeny-aided structural analysis

Adaptive evolution of bacterial metabolic networks by horizontal gene transfer

Genomic buffering mitigates the effects of deleterious mutations in bacteria

Erratum

Erratum: Integrating genotypic and expression data in a segregating mouse population to identify 5-lipoxygenase as a susceptibility gene for obesity and bone traits

Corrigendum

Correction: Corrigendum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

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