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Caroline Wright, Matthew Hurles and Helen Firth propose that a principle of proportionality be applied to genomic data that weighs the depth of data (what is shared) against the breadth of sharing (with whom) to find a proportionate approach that balances beneficence and non-maleficence.
The phenotypic heterogeneity of intellectual disability (ID) disorders has hampered studies of the underlying genetics, but major progress has been achieved by recent applications of next-generation sequencing. This Review discusses our latest understanding of ID genetics, including the identification ofde novoand inherited mutations of various types, strategies for assigning disease causality to the mutations, emerging pathological mechanisms and future research directions.
Complex and intricate RNA splicing mechanisms are crucial for gene regulation and for maximizing proteomic diversity. This Review discusses how alterations to splicing mechanisms — such as mutations in pre-mRNAs, or mutations and dysregulation of core spliceosome proteins and other RNA-binding proteins — results in diverse molecular consequences and various diseases. Opportunities for therapeutic correction of these defects are also explored.
The differentiation of sex chromosomes in vertebrates created a need for mechanisms that compensate for differences in dosage of gene expression between the sexes. The author reviews the diversity of these mechanisms, their effects on gene expression, and their origin and evolution across the major vertebrate groups.
Long non-coding RNAs (lncRNAs) are a class of RNAs with great molecular and regulatory diversity. This Review discusses how, beyond their lack of protein-coding potential, some types of lncRNAs are known to exhibit features that are distinct from mRNAs, including their transcriptional regulation, localization, processing, biological capabilities and degradation. Such properties underlie many of the key cellular functions of lncRNAs.
