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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.
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.
The increased genetic diversity in populations with recent ancestry from more than one continent may help in the identification of genetic variants underlying disease risk. This Progress article discusses recent developments in methods to study complex traits in these admixed populations, including combining SNP and admixture association signals.
RNA polymerase III is highly specialized for the production of short non-coding RNAs. This Progress article discusses the implications of recent ChIP–seq studies that reveal unprecedented genome-wide detail and unanticipated complexities of RNA polymerase III transcription, including tissue-specific transcriptional regulation and intriguing parallels to RNA polymerase II.
Planar cell polarity (PCP), the polarization of a field of cells within the plane of a cell sheet, is required for various developmental processes. This Progress article discusses recent developments in PCP — from the signals that orient polarity inDrosophila, to new insights into vertebrate collective cell movements and cilial functions.
Genetic and genomic approaches — including high-throughput sequence analysis and transcriptomics experiments — are revealing a clearer picture of the pathophysiological steps underlying the different forms of heart failure (genetic and acquired) and the genomic responses to cardiac overload.
The authors describe how the evolving designs of eQTL studies, facilitated by advances in genotyping and gene-expression-based technologies, are increasingly able to investigate the role of regulatory variation in different biological contexts.
