Identification of coding polymorphisms in human circadian rhythm genes PER1, PER2, PER3, CLOCK, ARNTL, CRY1, CRY2 and TIMELESS in a multi-ethnic screening panel.

DNA sequence : the journal of DNA sequencing and mapping Pub Date : 2008-02-01 DOI:10.1080/10425170701322197

Gregory A Hawkins, Deborah A Meyers, Eugene R Bleecker, Allan I Pack

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引用次数: 33

Abstract

Study objective: In this study, the exonic regions of the circadian rhythm genes PER1, PER2, PER3, CLOCK, ARNTL, CRY1, CRY2 and TIMELESS were re-sequenced and coding changes identified in a panel of 95 individuals varying in ethnicity.

Study participants: DNA screening panel consisting of 95 DNA samples (17 American Caucasians, 17 African Americans, 8 Ashkenazi Jews, 8 Chinese, 8 Japanese, 5 Mexican Indians, 8 Mexicans, 8 Northern Europeans, 8 Puerto Ricans, and 8 South Americans) selected from the Coriell Institute Human Variation Panel.

Results: In addition to coding changes already identified in the database dbSNP, novel coding changes were identified, including PER1: Pro37Ser, Pro351Ser, Gln988Pro, Ala998Thr; PER2: Leu83Arg, Leu157Leu, Thre174Ile, Phe400Phe, Pro822Pro, Ala828Thr, Ala861Val, Phe876Leu, Val883Met, Val903Ile, Ala923Pro; PER3: Pro67Pro, Val90Ile, His638His, Ala820Ala, Leu929Leu; ARNTL: Arg166Gln, Ser459Phe; CLOCK: Ala34Ala, Ser208Cys, Phe233Phe, Ser632Thr, Ser816Ser; TIMELESS: Met870Val and CRY2: His35His. No coding polymorphisms were identified in CRY1.

Conclusions: Considerable genetic variation occurs within the coding region of the genes regulating circadian rhythm. Many of the non-synonymous coding polymorphisms could affect protein structure/function with the potential to affect molecular regulation of the sleep/wake cycle. Many of the potential functional effects could be ethnic group specific.

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在多种族筛选小组中鉴定人类昼夜节律基因 PER1、PER2、PER3、CLOCK、ARNTL、CRY1、CRY2 和 TIMELESS 的编码多态性。

研究目的本研究重新测序了 95 个不同种族个体的昼夜节律基因 PER1、PER2、PER3、CLOCK、ARNTL、CRY1、CRY2 和 TIMELESS 的外显子区域，并确定了编码变化：DNA 筛查小组由 95 个 DNA 样本组成（17 个美国白种人、17 个非洲裔美国人、8 个阿什肯纳兹犹太人、8 个中国人、8 个日本人、5 个墨西哥印第安人、8 个墨西哥人、8 个北欧人、8 个波多黎各人和 8 个南美人），这些样本选自科里尔研究所人类变异小组：PER2：Leu83Arg、Leu157Leu、Thre174Ile、Phe400Phe、Pro822Pro、Ala828Thr、Ala861Val、Phe876Leu、Val883Met、Val903Ile、Ala923Pro；PER3：PER3：Pro67Pro、Val90Ile、His638His、Ala820Ala、Leu929Leu；ARNTL：Arg166Gln、Ser459Phe；CLOCK：Ala34Ala、Ser208Cys、Phe233Phe、Ser632Thr、Ser816Ser；TIMELESS：Met870Val和CRY2：His35His。在 CRY1 中未发现编码多态性：结论：调控昼夜节律的基因编码区存在大量遗传变异。许多非同义编码多态性可能会影响蛋白质的结构/功能，并有可能影响睡眠/觉醒周期的分子调控。许多潜在的功能影响可能是特定族群的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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DNA sequence : the journal of DNA sequencing and mapping

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