Illuminating the Genome’s Dark Matter – GersteinInfo
Saturday, November 21st, 2015My review of J Parrington’s Deeper Genome
http://www.cell.com/cell/abstract/S0092-8674(15)01475-0 The book illuminates genomic dark matter & is a good read to boot!
My review of J Parrington’s Deeper Genome
http://www.cell.com/cell/abstract/S0092-8674(15)01475-0 The book illuminates genomic dark matter & is a good read to boot!
Reconstructing the DNA Methylation Maps of the Neandertal and the Denisovan
David Gokhman,
Eitan Lavi,
Kay Prüfer,
Mario F. Fraga,
José A. Riancho,
Janet Kelso,
Svante Pääbo,
Eran Meshorer,
and Liran Carmel
Science 2 May 2014: 523-527.Published online 17 April 2014
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While enriched with ENCODE biochemical annotations, much of the short-lived constrained sequences we identify are not detected by models optimized for wider pan-mammalian conservation. Constrained DNase 1 hypersensitivity sites, promoters and untranslated regions have been more evolutionarily stable than long noncoding RNA loci which have turned over especially rapidly. By contrast, protein coding sequence has been highly stable, with an estimated half-life of over a billion years (d1/2 = 2.1–5.0). From extrapolations we estimate that 8.2% (7.1–9.2%) of the human genome is presently subject to negative selection and thus is likely to be functional, while only 2.2% has maintained constraint in both human and mouse since these species diverged.
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http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1004525
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Woe to that child which when kissed on the forehead tastes salty. He is bewitched and soon must die. This adage, from northern European folklore, is an early reference to the common genetic disease recognized today as cystic fibrosis. As the saying implies, the disorder once routinely killed children in infancy and is often identifiable by excessive salt in sweat.
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Pseudoenzymes are proteins that cannot catalyze chemical reactions despite being clearly related structurally to functioning enzymes. Many enzyme families contain inactive members. For example, a number of human kinases lack at least one of the key amino acids necessary for catalysis of phosphate transfer [1]. Often pseudoenzymes still have biological roles, albeit non-catalytic. Some assist true enzymes in obtaining functional folds, some server as platforms for other proteins to interact, and some are escorts for proteins [2][3]. “}}