Mutation screening of the human Clock gene in circadian rhythm sleep disorders

Toshio Iwase; Naofumi Kajimura; Makoto Uchiyama; Takashi Ebisawa; Kimio Yoshimura; Yuichi Kamei; Kayo Shibui; Keiko Kim; Yoshinao Kudo; Masaaki Katoh; Tsuyoshi Watanabe; Toru Nakajima; Yuji Ozeki; Mariko Sugishita; Toru Hori; Masaaki Ikeda; Ryoichi Toyoshima; Yuichi Inoue; Naoto Yamada; Kazuo Mishima; Masahiko Nomura; Norio Ozaki; Masako Okawa; Kiyohisa Takahashi; Toshio Yamauchi

doi:10.1016/S0165-1781(02)00006-9

Mutation screening of the human Clock gene in circadian rhythm sleep disorders

Toshio Iwase, Naofumi Kajimura, Makoto Uchiyama, Takashi Ebisawa, Kimio Yoshimura, Yuichi Kamei, Kayo Shibui, Keiko Kim, Yoshinao Kudo, Masaaki Katoh, Tsuyoshi Watanabe, Toru Nakajima, Yuji Ozeki, Mariko Sugishita, Toru Hori, Masaaki Ikeda, Ryoichi Toyoshima, Yuichi Inoue, Naoto Yamada, Kazuo MishimaMasahiko Nomura, Norio Ozaki, Masako Okawa, Kiyohisa Takahashi, Toshio Yamauchi

Research output: Contribution to journal › Article › peer-review

126 Citations (Scopus)

Abstract

We tested whether the human Clock (hClock) gene, one of the essential components of the circadian oscillator, is implicated in the vulnerability to delayed sleep phase syndrome (DSPS) and non-24-hour sleep-wake syndrome (N-24). Screening in the entire coding region of the hClock gene with PCR amplification revealed three polymorphisms, of which two predicted the amino acid substitutions R533Q and H542R. The frequencies of the R533Q and H542R alleles in patients with DSPS or N-24 were very low and not significantly different from those in control subjects. A T3111C polymorphism in the 3′-untranslated region of hClock, which had been reportedly associated with morning or evening preference for activity, was also investigated; the results showed that the 3111C allele frequency decreased in DSPS. Polymorphisms in the coding region of the hClock gene are unlikely to play an important role in the development of DSPS or N-24. The possible contribution of the T3111C polymorphism to DSPS susceptibility should be studied further.

Original language	English
Pages (from-to)	121-128
Number of pages	8
Journal	Psychiatry Research
Volume	109
Issue number	2
DOIs	https://doi.org/10.1016/S0165-1781(02)00006-9
Publication status	Published - 2002
Externally published	Yes

Keywords

Delayed sleep phase syndrome
Genetic screening
Missense mutation
Non-24-hour sleep-wake syndrome
Single-strand conformation polymorphism
Transcription factors

ASJC Scopus subject areas

Psychiatry and Mental health
Biological Psychiatry

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/S0165-1781(02)00006-9

Cite this

Iwase, T., Kajimura, N., Uchiyama, M., Ebisawa, T., Yoshimura, K., Kamei, Y., Shibui, K., Kim, K., Kudo, Y., Katoh, M., Watanabe, T., Nakajima, T., Ozeki, Y., Sugishita, M., Hori, T., Ikeda, M., Toyoshima, R., Inoue, Y., Yamada, N., ... Yamauchi, T. (2002). Mutation screening of the human Clock gene in circadian rhythm sleep disorders. Psychiatry Research, 109(2), 121-128. https://doi.org/10.1016/S0165-1781(02)00006-9

Iwase, T, Kajimura, N, Uchiyama, M, Ebisawa, T, Yoshimura, K, Kamei, Y, Shibui, K, Kim, K, Kudo, Y, Katoh, M, Watanabe, T, Nakajima, T, Ozeki, Y, Sugishita, M, Hori, T, Ikeda, M, Toyoshima, R, Inoue, Y, Yamada, N, Mishima, K, Nomura, M, Ozaki, N, Okawa, M, Takahashi, K & Yamauchi, T 2002, 'Mutation screening of the human Clock gene in circadian rhythm sleep disorders', Psychiatry Research, vol. 109, no. 2, pp. 121-128. https://doi.org/10.1016/S0165-1781(02)00006-9

@article{037b13d10fa942d5a6a48e41ccdd9be1,

title = "Mutation screening of the human Clock gene in circadian rhythm sleep disorders",

abstract = "We tested whether the human Clock (hClock) gene, one of the essential components of the circadian oscillator, is implicated in the vulnerability to delayed sleep phase syndrome (DSPS) and non-24-hour sleep-wake syndrome (N-24). Screening in the entire coding region of the hClock gene with PCR amplification revealed three polymorphisms, of which two predicted the amino acid substitutions R533Q and H542R. The frequencies of the R533Q and H542R alleles in patients with DSPS or N-24 were very low and not significantly different from those in control subjects. A T3111C polymorphism in the 3′-untranslated region of hClock, which had been reportedly associated with morning or evening preference for activity, was also investigated; the results showed that the 3111C allele frequency decreased in DSPS. Polymorphisms in the coding region of the hClock gene are unlikely to play an important role in the development of DSPS or N-24. The possible contribution of the T3111C polymorphism to DSPS susceptibility should be studied further.",

keywords = "Delayed sleep phase syndrome, Genetic screening, Missense mutation, Non-24-hour sleep-wake syndrome, Single-strand conformation polymorphism, Transcription factors",

author = "Toshio Iwase and Naofumi Kajimura and Makoto Uchiyama and Takashi Ebisawa and Kimio Yoshimura and Yuichi Kamei and Kayo Shibui and Keiko Kim and Yoshinao Kudo and Masaaki Katoh and Tsuyoshi Watanabe and Toru Nakajima and Yuji Ozeki and Mariko Sugishita and Toru Hori and Masaaki Ikeda and Ryoichi Toyoshima and Yuichi Inoue and Naoto Yamada and Kazuo Mishima and Masahiko Nomura and Norio Ozaki and Masako Okawa and Kiyohisa Takahashi and Toshio Yamauchi",

note = "Funding Information: The nucleotide sequences containing the missense polymorphisms reported in this manuscript have been submitted to the DDBJ/EMBL/GenBank databases under the accession numbers AB059556 and AB061682. The authors are grateful to Mr Eiichi Yamada, Ms Kyoko Ohnishi, and Mr Masakazu Kinoshita for their expert technical assistance. This work was supported by research grants from the Ministry of Health and Welfare, and the Ministry of Education, Science, Sports, and Culture (10557089, 11233206, 11770558, 12470198), and by Saitama Medical School.",

year = "2002",

doi = "10.1016/S0165-1781(02)00006-9",

language = "English",

volume = "109",

pages = "121--128",

journal = "Psychiatry Research",

issn = "0165-1781",

publisher = "Elsevier Ireland Ltd",

number = "2",

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TY - JOUR

T1 - Mutation screening of the human Clock gene in circadian rhythm sleep disorders

AU - Iwase, Toshio

AU - Kajimura, Naofumi

AU - Uchiyama, Makoto

AU - Ebisawa, Takashi

AU - Yoshimura, Kimio

AU - Kamei, Yuichi

AU - Shibui, Kayo

AU - Kim, Keiko

AU - Kudo, Yoshinao

AU - Katoh, Masaaki

AU - Watanabe, Tsuyoshi

AU - Nakajima, Toru

AU - Ozeki, Yuji

AU - Sugishita, Mariko

AU - Hori, Toru

AU - Ikeda, Masaaki

AU - Toyoshima, Ryoichi

AU - Inoue, Yuichi

AU - Yamada, Naoto

AU - Mishima, Kazuo

AU - Nomura, Masahiko

AU - Ozaki, Norio

AU - Okawa, Masako

AU - Takahashi, Kiyohisa

AU - Yamauchi, Toshio

N1 - Funding Information: The nucleotide sequences containing the missense polymorphisms reported in this manuscript have been submitted to the DDBJ/EMBL/GenBank databases under the accession numbers AB059556 and AB061682. The authors are grateful to Mr Eiichi Yamada, Ms Kyoko Ohnishi, and Mr Masakazu Kinoshita for their expert technical assistance. This work was supported by research grants from the Ministry of Health and Welfare, and the Ministry of Education, Science, Sports, and Culture (10557089, 11233206, 11770558, 12470198), and by Saitama Medical School.

PY - 2002

Y1 - 2002

N2 - We tested whether the human Clock (hClock) gene, one of the essential components of the circadian oscillator, is implicated in the vulnerability to delayed sleep phase syndrome (DSPS) and non-24-hour sleep-wake syndrome (N-24). Screening in the entire coding region of the hClock gene with PCR amplification revealed three polymorphisms, of which two predicted the amino acid substitutions R533Q and H542R. The frequencies of the R533Q and H542R alleles in patients with DSPS or N-24 were very low and not significantly different from those in control subjects. A T3111C polymorphism in the 3′-untranslated region of hClock, which had been reportedly associated with morning or evening preference for activity, was also investigated; the results showed that the 3111C allele frequency decreased in DSPS. Polymorphisms in the coding region of the hClock gene are unlikely to play an important role in the development of DSPS or N-24. The possible contribution of the T3111C polymorphism to DSPS susceptibility should be studied further.

AB - We tested whether the human Clock (hClock) gene, one of the essential components of the circadian oscillator, is implicated in the vulnerability to delayed sleep phase syndrome (DSPS) and non-24-hour sleep-wake syndrome (N-24). Screening in the entire coding region of the hClock gene with PCR amplification revealed three polymorphisms, of which two predicted the amino acid substitutions R533Q and H542R. The frequencies of the R533Q and H542R alleles in patients with DSPS or N-24 were very low and not significantly different from those in control subjects. A T3111C polymorphism in the 3′-untranslated region of hClock, which had been reportedly associated with morning or evening preference for activity, was also investigated; the results showed that the 3111C allele frequency decreased in DSPS. Polymorphisms in the coding region of the hClock gene are unlikely to play an important role in the development of DSPS or N-24. The possible contribution of the T3111C polymorphism to DSPS susceptibility should be studied further.

KW - Delayed sleep phase syndrome

KW - Genetic screening

KW - Missense mutation

KW - Non-24-hour sleep-wake syndrome

KW - Single-strand conformation polymorphism

KW - Transcription factors

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U2 - 10.1016/S0165-1781(02)00006-9

DO - 10.1016/S0165-1781(02)00006-9

M3 - Article

C2 - 11927136

AN - SCOPUS:0036205316

SN - 0165-1781

VL - 109

SP - 121

EP - 128

JO - Psychiatry Research

JF - Psychiatry Research

IS - 2

ER -

Mutation screening of the human Clock gene in circadian rhythm sleep disorders

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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