Friday, 14 August 2009

It isn't that you are tired, it is because you are genetically weak.

A mutation in the transcription repressor DEC2 has been shown in human and mouse to influence the total amount of daily sleep time required. Reported in Science.

It isn't well reported in terms of the actual genome location but using EnsEMBL annotation, I traced the variant (on hg19) to chromosome 12, base 26276297. As reported, it is a C->G (proline to arginine). It isn't typed on the Affy 6.0 or Illumina 1M chip. There is nothing I could see on frequency in the general population, but USAToday reports it is 3% (reference). There is also no dbSNP annotation at this location, but it is a well conserved residue. And there was no information on Watson or Venter phenotypes in Ensembl 55.

Looks like your hope for being some sort of sleep-impervious super human are small.

Monday, 10 August 2009

Your brain is more scrambled than you think

Some evidence reported in Nature demonstrated that there is a higher frequency of L1 retrotransposition in the genomes of neural progenitor cells. This has some interesting potential implications such that the genomes of brain cells might be strinkingly different from those in other parts of the body. I originally read about it here: Jumping Genes Create Diversity in Human Brain Cells, Offering Clues to Evolutionary And Neurological Disease The original article can be found on the Nature site here.