Volume 13 Issue 1, January 2012

The recent discovery of enzymes that convert 5-methylcytosine to 5-hydroxymethylcytosine (5hmC) in mammalian genomes has led to a surge of interesting possible functions for 5hmC, from the regulation of DNA methylation to the biology of pluripotency, differentiation and brain function.

This article describes the promising technologies for generating humanized mouse models — that is, mouse strains containing large sections of human coding and non-coding sequences — for the purposes of improving our understanding of basic genome function and disease and discovering effective therapies.

Synthetic biological devices can be engineered to achieve high levels of precision and specificity, which makes them ideally suited for use in clinical settings. Devices are being developed to meet a range of biomedical needs, including specific cancer therapies and metabolic control.

Repeat sequences in DNA remain one of the most challenging aspects of next-generation sequencing data analysis and interpretation. This Review explains the problems and current strategies for handling repeats; ignoring repeats risks missing important biological information.

Studies of the composition, dynamics and function of the human microbiome have taken off in the past two years thanks to the development of new sequencing technologies and advanced algorithms. This article provides a guide to the experimental and analytical best practices in this flourishing field.

Changes incis-regulatory sequences, especially enhancers, make a substantial contribution to phenotypic diversity among and within species. Recent studies have begun to uncover the mechanisms underlying cis-regulatory divergence, such as the types of mutations that occur and their influence on transcription factor binding.