Sequencing the genomes of every family member gives researchers a powerful new tool for tracking down the defective genes that cause inherited diseases Family genome sequences can fast-track the identification of disease genes.

Sonic hedgehog, a gene that plays a crucial rule in the positioning and growth of limbs, fingers and toes, has been confirmed in an unexpected place in the embryos of developing mice -- the layer of cells that creates the skin.

Research highlights

Nature Genetics 42, 195 (2010). doi:10.1038/ng0310-195

Author: Orli Bahcall, Pamela Colosimo, Emily Niemitz & Kyle Vogan

Understanding variable expressivity in microdeletion syndromes

Nature Genetics 42, 192 (2010). doi:10.1038/ng0310-192

Authors: Joris A Veltman & Han G Brunner

A new study reports an elevated frequency of second-site genomic alterations among children with severe developmental delay who carry a recurrent microdeletion at chromosome 16p12.1. The work highlights the complex relationship between genotype and phenotype and provides a model to explain the clinical variability associated with this and other common microdeletion syndromes.

A new genetic test may help dieters decide whether they would lose more weight on a low-fat diet, one that cuts carbohydrates or a more balanced approach, maker Interleukin Genetics Inc reported on Wednesday.

Open chromatin and diabetes risk

Nature Genetics 42, 190 (2010). doi:10.1038/ng0310-190

Author: Leif Groop

A new study has identified a large number of open chromatin regions harboring active regulatory elements in human pancreatic islets. A type 2 diabetes–associated SNP in TCF7L2 was found to be located in a region of allele-specific open chromatin and shows allele-specific enhancer activity, suggesting a potential mechanism for this disease association.

Deciphering genetic susceptibility to frontotemporal lobar dementia

Nature Genetics 42, 189 (2010). doi:10.1038/ng0310-189

Authors: Jean-Charles Lambert & Philippe Amouyel

A genome-wide association study has identified a new genetic susceptibility factor for a subtype of frontotemporal lobar dementia characterized by TDP-43 inclusions. The work illustrates how high-quality phenotyping can increase power to detect risk alleles for rare heterogeneous diseases.

Proportional representation

Nature Genetics 42, 187 (2010). doi:10.1038/ng0310-187

The journal publishes papers from a very broad geographical catchment, and we invite peer referees from among the world's best genetics researchers in order to attract and publish papers of a uniformly high standard. We need to do more to recruit outstanding referees from under-represented regions.

Research highlights

Nature Genetics 42, 103 (2010). doi:10.1038/ng0210-103

Author: Orli Bahcall, Pamela Colosimo, Emily Niemitz & Kyle Vogan