A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans.
Pellegrino R, Kavakli IH, Goel N, Cardinale CJ, Dinges DF, Kuna ST, Maislin G, Van Dongen HP, Tufik S, Hogenesch JB, Hakonarson H, Pack AI.
Pellegrino R, et al.
Sleep. 2014 Aug 1;37(8):1327-36. doi: 10.5665/sleep.3924.
Sleep. 2014.
PMID: 25083013
Free PMC article.
Both twins had almost identical amounts of non rapid eye movement (NREM) sleep. This variant reduced the ability of BHLHE41 to suppress CLOCK/BMAL1 and NPAS2/BMAL1 transactivation in vitro. ...Mutations that affect sleep also modify the normal inhibition of BHLHE …
Both twins had almost identical amounts of non rapid eye movement (NREM) sleep. This variant reduced the ability of BHLHE41 to suppre …