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Anthony Bleyer, Eric Lander, Mark Daly and colleagues show that frameshift mutations in a large VNTR of MUC1 cause medullary cystic kidney disease type 1. Their discovery sheds light on the biology of this disease and highlights challenges in using massively parallel sequencing technologies to characterize certain types of sequence variants.
Julie Baker and colleagues report epigenome and transcriptome profiles of rat and mouse trophoblast stem cells and show that endogenous retroviruses serve as a genome-wide source of species-specific enhancer elements in the placenta.
Caroline Klaver and colleagues report a meta-analysis for refractive error and myopia, including 37,382 individuals from 27 European studies and 8,376 individuals from 5 Asian studies, as part of the Consortium for Refractive Error and Myopia (CREAM).
Domesticated maize make 8–20 rows of kernels, whereas its ancestor teosinte makes 2 rows. David Jackson and colleagues report that variation at the FEA2 locus in maize influences kernel row number and kernels per ear, which are important crop yield traits.
William Newman, Gareth Evans and colleagues report that loss-of-function mutations in SMARCE1 cause an inherited disorder characterized by multiple spinal meningiomas. Tumors from individuals with SMARCE1 mutations showed loss of SMARCE1 protein, consistent with a tumor suppressor mechanism.
William Carroll and colleagues report the identification of mutations in NT5C2, encoding cytosolic 5′-nucleotidase II, which are specific for relapsed childhood acute lymphoblastic leukemia. The mutations confer increased enzymatic activity and resistance to treatment with nucleoside analog therapies in vitro.
Wenbo Ma and colleagues show that two effectors from the oomycete plant pathogen Phytophthora sojae suppress RNA silencing in plants by inhibiting the biogenesis of small RNAs. These findings show that some eukaryotic pathogens, like their prokaryotic and viral counterparts, have evolved virulence proteins that target host RNA silencing processes to promote infection.
Attempts to elucidate the mechanism underpinning the genetic association between IFNL3, previously called IL28B, and clearance of hepatitis C virus have, by and large, been unsuccessful. A study in this issue suggests that a new gene, IFNL4, may be responsible.
Our understanding of inherited risk factors for colorectal cancer (CRC) is incomplete. A new study reports the identification of germline CRC risk variants that adversely affect the proofreading function of DNA polymerases encoded by POLE and POLD1.
In this issue, we offer a draft community standard for a postdoctoral career workshop that can be used as a template and resource for career development at any institution. This document addresses the issue of what can be standardized to improve the lot of postdoctoral researchers, given that this is a professional group with diverse objectives that is motivated mainly by scientific curiosity.
Andrew Wilkie and colleagues report that mutations in TCF12 cause coronal craniosynostosis. They found heterozygous mutations in 38 unrelated families.
George Mavrothalassitis, Andrew Wilkie and colleagues report the identification of mutations in ERF that cause a complex craniosynostosis disorder with multiple-suture synostosis, craniofacial dysmorphism, Chiari malformation and language delay. They also show that reduced dosage of Erf in mice causes craniosynostosis.
Tim Chan and colleagues report the identification of recurrent somatic mutations in FAT1 in glioblastoma, colon cancer and head and neck cancer and show that inactivation of FAT1 promotes Wnt signaling and tumorigenesis.
Heymut Omran, Mary Porter and colleagues identify the nexin link–dynein regulatory complex subunit DRC1 from Chlamydomonas and show that mutations in the human DRC1 homolog CCDC164 cause primary ciliary dyskinesia. Their analyses show that loss of DRC1 results in distinct axonemal defects and altered ciliary beat patterns.