PER1

PER1 is a gene that encodes the protein Period circadian regulator 1 in humans. It is one of the core components of the circadian clock, which governs the timing of various physiological processes, including sleep, metabolism, and hormone regulation. PER1 is involved in the generation and maintenance of circadian rhythms, playing a crucial role in the feedback loop that drives cellular timekeeping.

Function

PER1 is part of a family of period genes, which also includes PER2 and PER3. These genes produce proteins that are integral to the circadian clock. PER1 protein interacts with other core clock proteins such as CRY1 (cryptochrome circadian regulator 1) and CRY2, to regulate the circadian rhythms. The PER1 protein, along with its homologs, negatively regulates the activity of the CLOCK-BMAL1 transcription factor complex, thus controlling the transcription of various genes that are involved in the circadian cycle.

Genetic Structure

The PER1 gene is located on chromosome 17 (17p13.1) in humans. It consists of multiple exons and introns that span more than 129,000 base pairs. The gene undergoes complex alternative splicing, which results in multiple transcript variants encoding different isoforms of the PER1 protein.

Clinical Significance

Alterations in the expression or function of PER1 have been linked to various sleep disorders, including familial advanced sleep phase syndrome and delayed sleep phase disorder. Additionally, because of its role in regulating the timing of cellular processes, PER1 is also implicated in the study of chronotherapy and its effectiveness in treating certain diseases. There is growing evidence suggesting that disruptions in circadian rhythms, potentially through mutations or misregulation of circadian genes like PER1, may be linked to increased susceptibility to cancer, metabolic syndrome, and cardiovascular diseases.

Research

Research on PER1 continues to uncover its complex role in circadian regulation and its broader implications in health and disease. Studies have explored its potential as a target for therapeutic interventions in sleep disorders, cancer, and other diseases where circadian disruption is a factor.

See Also

• Circadian rhythm
• Chronobiology
• Gene expression