Identification Of Coding Polymorphisms In Human Circadian Rhythm Genes Per1, Per2, Per3, Clock, Arntl, Cry1, Cry2 And Timeless In A Multi-ethnic …
GA Hawkins, DA Meyers, ER Bleecker, AI Pack - DNA sequence, 2008 - Taylor & Francis
GA Hawkins, DA Meyers, ER Bleecker, AI Pack
DNA sequence, 2008•Taylor & FrancisStudy 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 …
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 …
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, Leul57Leu, Threl74Ile, Phe400Phe, Pro822Pro, Ala828Thr, Ala861Val, Phe876Leu, Val883Met, Val903Ile, Ala923Pro; PER3: Pro67Pro, Val90Ile, His638His, Ala820Ala, Leu929Leu; ARNTL: Argl66Gln, 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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