Genetics of human sleep behavioral phenotypes

Abstract

Quality sleep is critical for daily functions of human beings and thus the timing and duration of sleep are tightly controlled. However, rare genetic variants affecting sleep regulatory mechanisms can result in sleep phenotypes of extremely deviated sleep/wake onset time or duration. Using genetic analyses in families with multiple members expressing particular sleep phenotypes, these sleep-associated genetic variants can be identified. Deciphering the nature of these genetic variants using animal models or biochemical methods helps further our understanding of sleep processes. In this chapter, we describe the methods for studying genetics of human sleep behavioral phenotypes.

Keywords: Active phase; Circadian period; Circadian rhythms; Copy-number variation; Electroencephalography; Familial advanced sleep phase; Familial natural short sleep; Linkage analysis; Mouse models; Rebound sleep; Rest phase; Sequencing; Single nucleotide polymorphism; Sleep deprivation; Sleep homeostasis; δ Power.