RGD Reference Report - Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome. - Rat Genome Database

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Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome.

Authors: Ebisawa, T  Uchiyama, M  Kajimura, N  Mishima, K  Kamei, Y  Katoh, M  Watanabe, T  Sekimoto, M  Shibui, K  Kim, K  Kudo, Y  Ozeki, Y  Sugishita, M  Toyoshima, R  Inoue, Y  Yamada, N  Nagase, T  Ozaki, N  Ohara, O  Ishida, N  Okawa, M  Takahashi, K  Yamauchi, T 
Citation: Ebisawa T, etal., EMBO Rep 2001 Apr;2(4):342-6.
RGD ID: 1358557
Pubmed: PMID:11306557   (View Abstract at PubMed)
PMCID: PMC1083867   (View Article at PubMed Central)
DOI: DOI:10.1093/embo-reports/kve070   (Journal Full-text)

Recent progress in biological clock research has facilitated genetic analysis of circadian rhythm sleep disorders, such as delayed sleep phase syndrome (DSPS) and non-24-h sleep-wake syndrome (N-24). We analyzed the human period3 (hPer3) gene, one of the human homologs of the Drosophila clock-gene period (Per), as a possible candidate for rhythm disorder susceptibility. All of the coding exons in the hPer3 gene were screened for polymorphisms by a PCR-based strategy using genomic DNA samples from sleep disorder patients and control subjects. We identified six sequence variations with amino acid changes, of which five were common and predicted four haplotypes of the hPer3 gene. One of the haplotypes was significantly associated with DSPS (Bonferroni's corrected P = 0.037; odds ratio = 7.79; 95% CI 1.59-38.3) in our study population. Our results suggest that structural polymorphisms in the hPer3 gene may be implicated in the pathogenesis of DSPS.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
advanced sleep phase syndrome  IAGP 1358557DNA:missense mutations:cds:multiple (human)RGD 
advanced sleep phase syndrome  ISOPER3 (Homo sapiens)1358557; 1358557DNA:missense mutations:cds:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Sleep-wake cycle disturbance  IAGP 1358557DNA:missense mutations:cds:multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Per3  (period circadian regulator 3)

Genes (Mus musculus)
Per3  (period circadian clock 3)

Genes (Homo sapiens)
PER3  (period circadian regulator 3)


Additional Information