News & Views in 2010

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  • Genetic mapping studies in dogs, mice, zebrafish and humans have identified two new genes required for the assembly of motile cilia. The resulting gene products, CCDC39 and CCDC40, may represent previously unidentified components of the dynein regulatory complex.

    • Peter Satir
    News & Views
  • Adult stem cells play pivotal roles in self-renewing tissues but also in the post-injury repair of adult organs that normally show little proliferative activity. A new study shows that Sox9 marks a putative adult stem cell population that contributes to the self-renewal and repair of the liver, exocrine pancreas and intestine, three organs of endodermal origin.

    • Meritxell Huch
    • Hans Clevers
    News & Views
  • To understand transcriptional regulation, it is necessary to understand the factors that determine where a particular transcription factor binds in the genome. A new study demonstrates that a single protein, FoxA1, can dictate the global DNA binding profile and the transcriptional function of estrogen receptor a in breast cancer cells and in other cell types.

    • Edwin Cheung
    • Yijun Ruan
    News & Views
  • A new study shows that somatic cell reprogramming is accompanied by changes in the expression of large intergenic non-coding RNAs (lincRNAs). Some of these reprogramming-induced lincRNAs are directly targeted by key pluripotency factors and regulate reprogramming, implicating lincRNAs in the reinstatement and maintenance of pluripotency.

    • Jia-Hui Ng
    • Huck-Hui Ng
    News & Views
  • Exome-based sequencing is a powerful approach for studying rare genetic diseases. A new study now applies this technology to demonstrate an important role for de novo mutations in sporadic mental retardation.

    • James R Lupski
    News & Views
  • Previous genome-wide association studies have identified a strong association between FTO and human obesity, although the mechanism by which FTO affects obesity remains unknown. A new study suggests that the obesity risk alleles are gain-of-function.

    • George Stratigopoulos
    • Rudolph L Leibel
    News & Views
  • New studies employing high-throughput parallel sequencing have revealed WDR62 mutations in individuals with microcephaly associated with a broad range of malformations of cortical development. These findings establish that WDR62 acts as a molecular link between proliferation and migration in neurogenesis.

    • Bernd Wollnik
    News & Views
  • Glutamate receptors have long been implicated in neurological processes underpinning learning and memory. A new study now shows that mutations in genes encoding glutamate receptor subunits can cause variable neurodevelopmental phenotypes including intellectual disability and epilepsy.

    • Jozef Gécz
    News & Views
  • A new study reports the next-generation sequencing of 517 rice genomes, each to approximately onefold coverage. By leveraging sequence information across rice lines and by imputing missing genotypes, a haplotype map (HapMap) was constructed and used for genome-wide association studies in this major crop.

    • Richard M Clark
    News & Views
  • A new study demonstrates that PRDM9 variation in humans leads to profound differences in the activity of hotspots for both allelic recombination and genomic instability. Although PRDM9 is found to play a role in many more human hotspots than previously suspected, the search remains for additional, undetermined factors involved in defining hotspot locations and intensities.

    • Gil McVean
    • Simon Myers
    News & Views
  • A genome-wide association study conducted among women with deleterious BRCA1 mutations has identified a common allele associated with breast cancer risk in BRCA1 carriers and estrogen receptor–negative breast cancer in the general population. This suggests that genetic association studies focused on particular subtypes may provide further insight into complex diseases.

    • Peter Kraft
    • Christopher A Haiman
    News & Views
  • The genome sequence of the domesticated apple has been assembled and compared to previously sequenced plant genomes. The genetic sequence of the 17 apple chromosomes shows evidence of a recent genome duplication that may have spawned the additional gene family members needed for the evolution and development of the unique fruit structure of the apple termed the pome.

    • James Giovannoni
    News & Views
  • What is the best way to identify regulatory DNA sequences such as enhancers, promoters, insulators and silencers? A new study shows that specific binding by a coactivator protein identifies enhancers that are invisible to common detection methods based on evolutionary constraint.

    • Ross C Hardison
    News & Views
  • Two genome-wide association studies for meningococcal disease and tuberculosis identify new loci associated with susceptibility to these infectious diseases. They highlight a role for the acquired and innate immune systems in host control of several human pathogens and demonstrate that denser genotyping platforms and population-specific reference panels are necessary for genetic studies in African populations.

    • Paul I W de Bakker
    • Amalio Telenti
    News & Views
  • The transition from fetal to adult β-like globin expression is a key step in the maturation of the red blood cell lineage. Two new studies show that the KLF1 zinc finger protein uses direct and indirect means to regulate the final switch from fetal to adult globin expression and that monoallelic loss of KLF1 expression leads to persistence of fetal hemoglobin.

    • James J Bieker
    News & Views
  • A new study reports that androgen signaling induces DNA double-strand breaks and TMPRSS2-ERG rearrangements through androgen receptor–mediated recruitment of topoisomerase 2B. These findings shed light on the generation of the most common fusion oncogene in human cancer.

    • Jiri Bartek
    • Petra Hamerlik
    • Jiri Lukas
    News & Views
  • A new study reports that susceptibility to drug-induced liver injury by the cyclooxygenase 2 (COX-2) inhibitor lumiracoxib is associated with a human lymphocyte antigen (HLA) class II haplotype. This finding suggests that those at risk of hepatotoxicity can be identified by HLA genotyping, raising the possibility that lumiracoxib can be resurrected as a useful drug.

    • Guruprasad P Aithal
    • Ann K Daly
    News & Views
  • A new study finds that individuals with high plasma triglyceride levels carry approximately twice as many rare, coding genetic variants within four candidate genes identified through genome-wide association studies than individuals without these high levels. This study demonstrates the overlap of rare and common variant signals at loci associated with lipid levels and shows the value of efforts to extend susceptibility variant discovery to embrace the full allele-frequency spectrum.

    • Anna L Gloyn
    • Mark I McCarthy
    News & Views
  • The virulence of Candida albicans, a major human fungal pathogen, has been considered dependent on the ability to transition between different morphologies. A new study reports a screen of C. albicans mutants that demonstrates that pathogenesis can be dissociated from morphological switching and in vitro growth rate.

    • P T Magee
    News & Views
  • Although susceptibility loci identified through genome-wide association studies (GWAS) typically explain only a small proportion of the heritability, a classical quantitative genetic analysis now argues that considering together all common SNPs can explain a large proportion of the heritability of these complex traits. A related study provides recommendations for the sample sizes needed in future GWAS to identify additional susceptibility loci.

    • Greg Gibson
    News & Views