"Basic helix-loop-helix family, member e41", or BHLHE41, is a gene that encodes, as the name implies, a basic helix-loop-helix protein in various tissues of both humans and mice. It also known as DEC2, hDEC2, and SHARP1, and was previously known as "basic helix-loop-helix domain containing, class B, 3", or BHLHB3.
Defects in this gene are associated with the short sleep phenotype . A particular genetic variation in the gene affects sleep duration in humans, and introduction of the human gene into mice also reduces their sleep requirements. This genetic variation was discovered by Ying-Hui Fu's lab.
^Fujimoto K, Shen M, Noshiro M, Matsubara K, Shingu S, Honda K, Yoshida E, Suardita K, Matsuda Y, Kato Y (February 2001). "Molecular cloning and characterization of DEC2, a new member of basic helix-loop-helix proteins". Biochem Biophys Res Commun280 (1): 164–71. doi:10.1006/bbrc.2000.4133. PMID11162494.
^Stevens JD, Roalson EH, Skinner MK (December 2008). "Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation". Differentiation76 (9): 1006–22. doi:10.1111/j.1432-0436.2008.00285.x. PMID18557763.
Garriga-Canut M, Roopra A, Buckley NJ (2001). "The basic helix-loop-helix protein, sharp-1, represses transcription by a histone deacetylase-dependent and histone deacetylase-independent mechanism.". J. Biol. Chem.276 (18): 14821–8. doi:10.1074/jbc.M011619200. PMID11278948.
Miyazaki K, Kawamoto T, Tanimoto K et al. (2003). "Identification of functional hypoxia response elements in the promoter region of the DEC1 and DEC2 genes.". J. Biol. Chem.277 (49): 47014–21. doi:10.1074/jbc.M204938200. PMID12354771.
Honma S, Kawamoto T, Takagi Y et al. (2002). "Dec1 and Dec2 are regulators of the mammalian molecular clock.". Nature419 (6909): 841–4. doi:10.1038/nature01123. PMID12397359.
Li Y, Xie M, Song X et al. (2003). "DEC1 negatively regulates the expression of DEC2 through binding to the E-box in the proximal promoter.". J. Biol. Chem.278 (19): 16899–907. doi:10.1074/jbc.M300596200. PMID12624110.
Azmi S, Sun H, Ozog A, Taneja R (2003). "mSharp-1/DEC2, a basic helix-loop-helix protein functions as a transcriptional repressor of E box activity and Stra13 expression.". J. Biol. Chem.278 (22): 20098–109. doi:10.1074/jbc.M210427200. PMID12657651.