Monthly Archives: February 2016

Timing, rates, and spectra of human germline mutations

Germline mutations are a driving force behind genome evolution and genetic disease. Authors [attached] investigated genome-wide mutation rates and spectra in multi-sibling families. The mutation rate increased with paternal age in all families, but the number of additional mutations per … Continue reading

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Striking interindividual variability in the Methylome: Comparison of dizygotic vs monozygotic twins

DNA methylation at various cytosine-guanine dinucleotide sites (CpG methylation) is known to be variable and is likely involved in human trait formation and disease susceptibility. Analyses within populations have been biased towards CpG-dense regions––due to the application of targeted arrays. … Continue reading

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Is BPS any “safer” than BPA ??

This is a recent article from Chemistry World. (Rebecca Trager Feb 11 2016) Questions are being asked about the safety of a common substitute for the controversial compound bisphenol A (BPA). BPA is used to make certain plastics and a number of … Continue reading

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High-fidelity ( New! Improved! ) CRISPR/Cas9 nucleases having <15% detectable genome-wide off-target effects seen with wild-type Cas9

CRISPR–Cas9 nucleases are now becoming widely used for genome-editing, but can induce unwanted off-target mutations, i.e. there easily may be other genes targeted unintentionally that one would not want targeted. Existing strategies for decreasing genome-wide off-target effects of the widely … Continue reading

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Importance of iron transport for lymphocyte function

The article and editorial describe a new cause of combined immunodeficiency (CID). Authors explain a form of CID caused by impaired cellular iron import. CIDs are genetic disorders with disrupted development, or function, … of T and B lymphocytes leading … Continue reading

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Flint (Michigan) Reflects on the Scope of the Problem Caused by Lead in Water

Below is pasted an article from several days ago in the New York Times. This breaking story is amazing … in this day-and-age, … when so much is known about the dangers of Pb-contaminated water, food and environment such as … Continue reading

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Immunity in modern Homo species boosted by genes from archaic humans

During human evolution, there can be neutral mutations (resulting in ‘genetic drift’) and positive-selection mutations (caused by selective pressures).  Human genes governing innate immunity provide a valuable tool for the study of the selective pressure imposed by microorganisms on host … Continue reading

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“Phenomenon, Curiosity, Paradox” — THIS is what creative science is all about

Title of this intriguing 2-page Editorial is “PCP addict”, but Steven McKnight is not talking about “phencyclidine” or “angel dust”.  Instead, he uses “PCP” as an abbreviation for three words: Phenomenon, Curiosity and Paradox.  Phenomenon is defined as “a rare … Continue reading

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Possible experimental and computational (PCR-amplified) artifacts when examining HPV in 135 cervical cancer samples

Earlier I shared a recent study by Hu et al. [Nat Genet 2o15; 47: 158-163], reporting 3,667 nuclear-integration events of human papillomavirus (HPV) in 135 cervical cancer samples, identified on the basis of hybrid human-viral DNA fragments. The (very interesting) … Continue reading

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