Volume 14 Issue 2, February 2013

The authors discuss recent advances — mainly gained through genomic methods such as RNA sequencing — in our understanding of the causes and consequences of differences in gene expression between females and males. Areas of progress include our understanding of the roles of sexual antagonism and dosage compensation.

A wealth of microarray gene expression data and a growing volume of RNA sequencing data are now available in public databases. The authors look at how these data are being used and discuss considerations for how such data should be analysed and deposited and how data reuse could be improved.

In addition to well-known roles in the cytoplasm, a growing number of functions for small RNAs in the nucleus are being discovered. These include roles in transcriptional repression, epigenetic modifications and genome stability. This Review considers examples from animals, plants and fungi.

The Y chromosomes of many species, including humans, are gene-poor and degenerate. The recent application of genome-wide technologies to evolutionarily old and young Y chromosomes has provided insight into the processes that have shaped them and their future.

With the increased cataloguing of human structural variants, our understanding of their influence on phenotype is ever improving. Here, the influence of structural variants on phenotypes including disease is discussed, and strategies for further characterization are presented.

Heritability estimates provide a useful means of understanding the genetic and environmental contributions to phenotypic variance. The authors define heritability, discuss how to estimate and interpret it in the context of disease and examine how biases in heritability estimates arise.