Genome articles from across Nature Portfolio

A study from Ru, Deng, Chen, Zhang and colleagues investigates how mutations in the mitochondrial genes Nd1 and Nd5 are inherited in mice. The authors report that increased maternal age strengthens purifying selection during postnatal oocyte development, probably through an increase in oocyte protein synthesis.

The Impact of Genomic Variation on Function Consortium is combining single-cell mapping, genomic perturbations and predictive modelling to investigate relationships between human genomic variation, genome function and phenotypes and will provide an open resource to the community.

Repeat expansions in the FGF14 gene can cause late-onset cerebellar ataxia (SCA27B), however the defining features of pathogenic expansions remain uncertain. Here, the authors compare the sequence and structure of FGF14 repeat expansions in patients and controls, leading them to suggest a lower pathogenic threshold and emphasizing the importance of sequencing the full expansion for accurate interpretation.

A study from Ru, Deng, Chen, Zhang and colleagues investigates how mutations in the mitochondrial genes Nd1 and Nd5 are inherited in mice. The authors report that increased maternal age strengthens purifying selection during postnatal oocyte development, probably through an increase in oocyte protein synthesis.

Duttke et al. show that transcription factors have position-dependent effects relative to their distance from the transcription start site, which suggests that a 'spatial grammar' could be used to encode multiple gene-regulatory programmes.

Tandem repeats are ubiquitous in the human genome and hold crucial information about our genetic diversity, evolution and susceptibility to disease.

In this Journal Club article, Laura Ross discusses several seminal papers that describe the discovery of germline-specific chromosomes and paternal genome elimination, striking examples of non-Mendelian genetics.

Logsdon et al. report the second complete sequence of all centromeres from a single human genome, enabling comparative analyses of the variation in tandemly repeating α-satellite DNA.