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Sequencing of genomes, including that of humans, has revolutionized our understanding of genome organization and accelerated the hunt for disease-causing mutations. New studies by the Human Epigenome Project (HEP) now highlight the importance and complexity of cytosine DNA methylation in tissue-specific regulation of gene expression.
A new study reports mutations in PLCE1 responsible for an autosomal recessive nephrotic syndrome in children that presents with diffuse mesangial sclerosis or focal segmental glomerulosclerosis. Remarkably, two affected individuals treated at an early phase of life responded to either steroids or cyclosporin A, opening a window of opportunity for therapy.
Analysis of the phenotype of mouse germ cells deficient for the retinoic acid–responsive gene Stra8 provides insight into the timing of the commitment to enter meiosis in mammals. The observations suggest that, as in other eukaryotes, this commitment precedes (or coincides with) the commitment to premeiotic DNA replication.
Many clinical syndromes result from deletion or duplication of regions within the human genome. Two new studies demonstrate strong connections between such events and allelic recombination in humans, which in the future may enable researchers to better predict the locations of unstable genomic regions.