Posts Tagged ‘deeper0mg’

Illuminating the Genome’s Dark Matter – GersteinInfo

November 21, 2015

My review of J Parrington’s Deeper Genome The book illuminates genomic dark matter & is a good read to boot!

My tag:

a book review by Anne Parfitt-Rogers: The Deeper Genome: Why There Is More to the Human Genome than Meets the Eye

September 15, 2015

Genetics: We are the 98% : Nature : Nature Publishing Group

August 8, 2015

Ancient DNA Holds Clues to Gene Activity in Extinct Humans

August 3, 2015

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

Missing heritability problem – Wikipedia, the free encyclopedia

August 3, 2015

George Otto Gey – Wikipedia, the free encyclopedia

August 2, 2015

PLOS Genetics: 8.2% of the Human Genome Is Constrained: Variation in Rates of Turnover across Functional Element Classes in the Human Lineage

August 2, 2015

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.

Cystic Fibrosis

August 2, 2015

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.

Pseudoenzyme – Proteopedia, life in 3D

August 2, 2015

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]. “}}

New lives for old: evolution of pseudoenzyme function illustrated by iRhoms : Abstract : Nature Reviews Molecular Cell Biology

August 2, 2015

– pseudoenzyme