Porokeratosis (PK) is a heterogeneous group of keratinization disorders. No causal genes except MVK have been identified, even though the disease was linked to several genomic loci. Here, we performed massively parallel sequencing and exonic CNV screening of 12 isoprenoid genes in 134 index PK patients (61 familial and 73 sporadic) and identified causal mutations in three novel genes (PMVK, MVD, and FDPS) in addition to MVK in the mevalonate pathway. Allelic expression imbalance (AEI) assays were performed in 13 lesional tissues. At least one mutation in one of the four genes in the mevalonate pathway was found in 60 (98%) familial and 53 (73%) sporadic patients, which suggests that isoprenoid biosynthesis via the mevalonate pathway may play a role in the pathogenesis of PK. Significantly reduced expression of the wild allele was common in lesional tissues due to gene conversion or some other unknown mechanism. A G-to-A RNA editing was observed in one lesional tissue without AEI. In addition, we observed correlations between the mutations in the four mevalonate pathway genes and clinical manifestations in the PK patients, which might support a new and simplified classification of PK under the guidance of genetic testing.DOI: http://dx.doi.org/10.7554/eLife.06322.001

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Background Microbial electrosynthesis (MES) is a biocathode-driven process, in which electroautotrophic microorganisms can directly uptake electrons or indirectly via H 2 from the cathode as energy sources and CO 2 as only carbon source to produce chemicals. Results This study demonstrates that a hydrogen evolution reaction (HER) catalyst can enhance MES performance. An active HER electrocatalyst molybdenum carbide (Mo 2 C)-modified electrode was constructed for MES. The volumetric acetate production rate of MES with 12 mg cm −2 Mo 2 C was 0.19 ± 0.02 g L −1 day −1 , which was 2.1 times higher than that of the control. The final acetate concentration reached 5.72 ± 0.6 g L −1 within 30 days, and coulombic efficiencies of 64 ± 0.7% were yielded. Furthermore, electrochemical study, scanning electron microscopy, and microbial community analyses suggested that Mo 2 C can accelerate the release of hydrogen, promote the formation of biofilms and regulate the mixed microbial flora. Conclusion Coupling a HER catalyst to a cathode of MES system is a promising strategy for improving MES efficiency. Electronic supplementary material The online version of this article (10.1186/s13068-019-1413-z) contains supplementary material, which is available to authorized users.