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This Week in Nature : Dec 15, 2011

In Nature this week, researchers at Rockefeller University report on a "microRNA regulon that mediates endothelial recruitment and metastasis by cancer cells." More specifically, the team shows that miR-126 "non-cell-autonomously regulates endothelial cell recruitment to metastatic breast cancer cells in vitro and in vivo" and that it "suppresses metastatic endothelial recruitment, metastatic angiogenesis, and metastatic colonization through coordinate targeting ofIGFBP2, PITPNC1, and MERTK — novel pro-angiogenic genes and biomarkers of human metastasis."

Elsewhere in the journal, a team led by investigators at the Friedrich Miescher Institute for Biomedical Research in Basel, Switzerland, reports its development of base-pair-resolution mouse methylomes in stem cells and neuronal progenitors, in which it "identified low-methylated regions with an average methylation of 30 percent." With these cells, the team also found that "cell-type-specific LMRs [low-methylated regions] are occupied by cell-type-specific transcription factors."

Over in Nature Genetics, researchers at the University of Exeter and elsewhere report their identification of de novo heterozygous inactivating mutations in GATA6 in 56 percent of the 27 individuals with pancreatic agenesis they studied. "These findings define the most common cause of human pancreatic agenesis and establish a key role for the transcription factor GATA6 in human pancreatic development," the authors write.

An international team led by investigators at Université Paris Descartes this week report in Nature Genetics its identification of three distinct heterozygous missense SMAD4 mutations affecting the codon for Ile500 in 11 individuals with Myhre syndrome, a developmental disorder "characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness, and cognitive delay." The authors say the results of their study lend support to the idea that individuals with Myhre syndrome are affected by impaired TGF-β-mediated transcriptional control.

The Scan

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.

Researchers Retrace Key Mutations in Reassorted H1N1 Swine Flu Virus With Avian-Like Features

Mutations in the acidic polymerase-coding gene boost the pathogenicity and transmissibility of Eurasian avian-like H1N1 swine influenza viruses, a PNAS paper finds.

Genome Sequences Reveal Evolutionary History of South America's Canids

An analysis in PNAS of South American canid species' genomes offers a look at their evolutionary history, as well as their relationships and adaptations.

Lung Cancer Response to Checkpoint Inhibitors Reflected in Circulating Tumor DNA

In non-small cell lung cancer patients, researchers find in JCO Precision Oncology that survival benefits after immune checkpoint blockade coincide with a dip in ctDNA levels.