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• Counting copy numbers characterizes prostate cancer

  Non-invasive 'liquid biopsies' can find metastatic or recurrent prostate cancer, in a low cost assay suitable for most healthcare systems, finds research published in Genome Medicine. Genomic signatures of prostate cancer, isolated from plasma DNA, display abnormal copy numbers of specific areas of more

• Protein maintains order in the nucleus
  

  Two metres of DNA are packed into the cell nucleus, presumably based on a strictly defined arrangement. Researchers working with biologist Patrick Heun from the Max Planck Institute of Immunobiology and Epigenetics in Freiburg have now succeeded in explaining a phenomenon, which was first observed 4 more

• Link between faster 'biological' aging and risk of developing age-related diseases

  An international team of scientists led by the University of Leicester has found new evidence that links faster 'biological' ageing to the risk of developing several age-related diseases - including heart disease, multiple sclerosis and various cancers. The study involved scientists in 14 centres ac more

White papers Chromosomes

• Nobel Prize for Solving the End-Replication Problem
  

  The Nobel Assembly awarded this year's Nobel Prize in Medicine to Elizabeth H. Blackburn, Jack W. Szostak, and Carol W. Greider for the discovery of how chromosomes are protected by telomeres and the enzyme telomerase. With their ingenious genetic research and meticulous biochemical studies, they not only solved a fundamental problem in biology but also opened a new field of research and initiated the development of potential therapies against disease more

• Aphidicolin-Mediated Replication Stress Induces Submicroscopic Tumor-Like Deletions in FHIT/FRA3B
  

  Common fragile sites (CFSs) are loci that are particularly susceptible to forming gaps and breaks on metaphase chromosomes after partial inhibition of DNA synthesis, for example induced by aphidicolin (APH). FRA3B, a fragile site lying within the FHIT tumor suppressor gene, is a site of frequent heterozygous and homozygous deletions in cancer cells and precancerous lesions. Most FHIT and other CFS-associated gene rearrangements in tumors are deletions of hundreds of kilobases often resulting in the inactivation of associated genes. However, there has been no direct evidence showing that CFS instability or replication stress can induce submicroscopic deletions like the ones found in cancer cells. Durkin et al. produced FHIT/FRA3B deletions similar to those in tumor cells by inducing replication stress in human-mouse chromosome 3 somatic hybrid cells with APH. more

• Rare Variants of IFIH1 Protect Against Type-1 Diabetes
  

  Nejentsev and co-workers have found that rare alleles of all associated IFIH1 polymorphisms consistently protect from type-1 diabetes, whereas IFIH1 alleles carried by the majority of the population predispose to the disease. This observation suggests that variants that disrupt IFIH1 function in the host antiviral response have been negatively selected rather than positively selected, because they confer protection from type-1 diabetes. Although the mechanisms by which IFIH1 polymorphisms contribute to type-1 diabetes pathogenesis remain to be explored, the authors noted that one of the protective variants is a non-sense mutation leading to a truncated 626-amino acid protein lacking the C-terminal helicase domain (Figure 1), whereas two other protective variants localize to the conserved splice donor sites and probably disrupt normal splicing of the IFIH1 transcript. This suggests that variants, which are predicted to reduce function of the IFIH1 protein, would decrease the risk of type-1 diabetes, whereas n more

Publications Chromosomes

• Chromosome Movements Promoted by the Mitochondrial Protein SPD-3 Are Required for Homology Search during Caenorhabditis elegans Meiosis

  by Leticia Labrador, Consuelo Barroso, James Lightfoot, Thomas Müller-Reichert, Stephane Flibotte, Jon Taylor, Donald G. Moerman, Anne M. Villeneuve, Enrique Martinez-Perez Pairing of homologous chromosomes during early meiosis is essential to prevent the formation of aneuploid gametes. Chromosom more

• Molecular Traffic Jams on DNA

  All aspects of DNA metabolism—including transcription, replication, and repair—involve motor enzymes that move along genomic DNA. These processes must all take place on chromosomes that are occupied by a large number of other proteins. However, very little is known regarding how nucleic acid motor p more

• Confirmation and fine‐mapping of clinical mastitis and somatic cell score QTL in Nordic Holstein cattle

  Summary A genome‐wide association study of 2098 progeny‐tested Nordic Holstein bulls genotyped for 36 387 SNPs on 29 autosomes was conducted to confirm and fine‐map quantitative trait loci (QTL) for mastitis traits identified earlier using linkage analysis with sparse microsatellite markers in t more

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