Genetics of Human Sleep Behavioral Phenotypes
Open accessAbstract
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.
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The length of the circadian period can be affected by circadian gene variants.
“Most people have sleep–wake and activity rhythms that, in the absence of environmental cues, are slightly longer than 24 hours3,4, but the length of this period can be affected by circadian gene variants5.”
From Rhythms of life: circadian disruption and brain disorders across the lifespan (2019) · cites this paper as [5]
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References 64 · Cited by 29
Research works printed but not linked: 1
- Strachan, T., & Read, A. P. (1999). Genetic mapping of Mendelian characters. In Human molecular genetics. New York: Wiley-Liss.
- Authors
- Hsu, P.-K., Ptáček, L. J., & Fu, Y.-H.
- Affiliations
- Howard Hughes Medical Institute (US)
- University of California, San Francisco (US)
- Venue
- Methods in Enzymology
- Publisher
- Elsevier
- Published
- 2015
- Volume
- 552
- Pages
- 309-324
- ISSN
- 0076-6879 (ISSN-L)
- OpenAlex
- W2394701143
- Cited by
- 29
- References
- 64
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 2 · 2023: 1 · 2022: 6 · 2021: 4 · 2020: 2 · 2019: 5 · 2018: 3 · 2017: 2 · 2016: 1
- FWCI
- 2.33
- Type
- book chapter
- Language
- en
- Open access
- green
- escholarship.org
- Locations
- Methods in enzymology on CD-ROM/Methods in enzymology (publishedVersion)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke (R01NS072360, NS072360, R56NS089959)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Sleep and Wakefulness Research
- Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
- Social Sciences › Psychology › Experimental and Cognitive Psychology › Sleep and related disorders
- Keywords
- sleep behavior, sleep phenotypes, genetic variants, circadian rhythm, sleep latency, sleep duration, sleep regulation
- MeSH terms
- Animals, Behavior, Humans, Phenotype, Sleep, Models, Animal
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