Articles in 2014

David Kingsley and colleagues functionally investigate a previously identified GWAS region in an enhancer of the KITLG gene (encoding KIT ligand) that is significantly associated with blond hair color in northern European populations. They show that a single regulatory SNP, located 350,000 bp upstream of the human gene, reduces the activity of a tissue-specific hair follicle enhancer and is sufficient to alter hair color in mice.

Hai Yan, Zachary Reitman and colleagues report exome sequencing of resected tumor tissue from brainstem gliomas and thalamic gliomas and identify mutations in PPM1D in brainstem gliomas.

Richard Houlston, Maria Teresa Landi and colleagues report the identification of large-effect associations for squamous lung cancer with rare variants in BRCA2 and CHEK2.

Tomas Ganz and colleagues identify a new regulator of iron metabolism, erythroferrone, that is produced by erythroblasts in response to erythropoietin and suppresses hepcidin expression during stress erythropoiesis. They further show that erythroferrone levels are highly elevated in a mouse model of β-thalassemia, contributing to hepcidin suppression and iron overload in this model.

We welcome our new sister journal Nature Plants and the increased commitment to the plant science community that it represents. This is an opportunity for Nature Genetics to emphasize the use of genetic and genomic tools and resources in discovering new plant biology and solving major agricultural challenges.

Although silent transposons in plants can be reactivated by stress or during development, their potential deleterious effects are prevented by transposon-derived epigenetically activated small interfering RNAs (easiRNAs). A new study shows how serendipitous interactions between reactivated transposons and endogenous microRNAs might initiate easiRNA biogenesis, establishing an unexpected link between these two classes of silencing small RNAs.

Proper control of cyclin-dependent kinases ensures coordinated cell cycle progression and guards against tumorigenesis. A new study identifies the PARK2 E3 ubiquitin ligase as an important coordinator of G1/S-phase cyclin turnover and explains how mutations targeting this key cell cycle regulatory node contribute to a range of cancers.

Prader-Willi syndrome (PWS) is caused by loss of paternally expressed genes at an imprinted locus on chromosome 15, including the long noncoding RNA IPW. A new study identifies a critical role for IPW in modulating the expression of maternally expressed genes in trans, which has important implications for the understanding of imprinted gene networks.

François Spitz and colleagues identify cis-acting enhancers of Myc in a region orthologous to human 8q24 that are required for normal development of the face in mice. Their results shed light on the role of this region in facial deformities in humans, including cleft lip and palate.