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Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder.

Abstract Patterns of daily human activity are controlled by an intrinsic circadian clock that promotes ∼24 hr rhythms in many behavioral and physiological processes. This system is altered in delayed sleep phase disorder (DSPD), a common form of insomnia in which sleep episodes are shifted to later times misaligned with the societal norm. Here, we report a hereditary form of DSPD associated with a dominant coding variation in the core circadian clock gene CRY1, which creates a transcriptional inhibitor with enhanced affinity for circadian activator proteins Clock and Bmal1. This gain-of-function CRY1 variant causes reduced expression of key transcriptional targets and lengthens the period of circadian molecular rhythms, providing a mechanistic link to DSPD symptoms. The allele has a frequency of up to 0.6%, and reverse phenotyping of unrelated families corroborates late and/or fragmented sleep patterns in carriers, suggesting that it affects sleep behavior in a sizeable portion of the human population.
PMID
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Authors

Mayor MeshTerms
Keywords

DSPD

circadian clock

circadian rhythm

sleep

Journal Title cell
Publication Year Start




PMID- 28388406
OWN - NLM
STAT- In-Process
DA  - 20170407
LR  - 20170407
IS  - 1097-4172 (Electronic)
IS  - 0092-8674 (Linking)
VI  - 169
IP  - 2
DP  - 2017 Apr 06
TI  - Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase
      Disorder.
PG  - 203-215.e13
LID - S0092-8674(17)30346-X [pii]
LID - 10.1016/j.cell.2017.03.027 [doi]
AB  - Patterns of daily human activity are controlled by an intrinsic circadian clock
      that promotes approximately 24 hr rhythms in many behavioral and physiological
      processes. This system is altered in delayed sleep phase disorder (DSPD), a
      common form of insomnia in which sleep episodes are shifted to later times
      misaligned with the societal norm. Here, we report a hereditary form of DSPD
      associated with a dominant coding variation in the core circadian clock gene
      CRY1, which creates a transcriptional inhibitor with enhanced affinity for
      circadian activator proteins Clock and Bmal1. This gain-of-function CRY1 variant 
      causes reduced expression of key transcriptional targets and lengthens the period
      of circadian molecular rhythms, providing a mechanistic link to DSPD symptoms.
      The allele has a frequency of up to 0.6%, and reverse phenotyping of unrelated
      families corroborates late and/or fragmented sleep patterns in carriers,
      suggesting that it affects sleep behavior in a sizeable portion of the human
      population.
CI  - Copyright (c) 2017 Elsevier Inc. All rights reserved.
FAU - Patke, Alina
AU  - Patke A
AD  - Laboratory of Genetics, The Rockefeller University, New York, NY 10065, USA.
      Electronic address: [email protected]
FAU - Murphy, Patricia J
AU  - Murphy PJ
AD  - Laboratory of Human Chronobiology, Weill Cornell Medical College, White Plains,
      NY 10605, USA.
FAU - Onat, Onur Emre
AU  - Onat OE
AD  - Department of Molecular Biology and Genetics, Faculty of Science, Bilkent
      University, Ankara 06800, Turkey.
FAU - Krieger, Ana C
AU  - Krieger AC
AD  - Department of Medicine, Center for Sleep Medicine, Weill Cornell Medical College,
      New York, NY 10065, USA.
FAU - Ozcelik, Tayfun
AU  - Ozcelik T
AD  - Department of Molecular Biology and Genetics, Faculty of Science, Bilkent
      University, Ankara 06800, Turkey.
FAU - Campbell, Scott S
AU  - Campbell SS
AD  - Laboratory of Human Chronobiology, Weill Cornell Medical College, White Plains,
      NY 10605, USA.
FAU - Young, Michael W
AU  - Young MW
AD  - Laboratory of Genetics, The Rockefeller University, New York, NY 10065, USA.
      Electronic address: [email protected]
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Cell
JT  - Cell
JID - 0413066
OTO - NOTNLM
OT  - DSPD
OT  - circadian clock
OT  - circadian rhythm
OT  - sleep
EDAT- 2017/04/08 06:00
MHDA- 2017/04/08 06:00
CRDT- 2017/04/08 06:00
PHST- 2017/01/14 [received]
PHST- 2017/02/18 [revised]
PHST- 2017/03/20 [accepted]
AID - S0092-8674(17)30346-X [pii]
AID - 10.1016/j.cell.2017.03.027 [doi]
PST - ppublish
SO  - Cell. 2017 Apr 6;169(2):203-215.e13. doi: 10.1016/j.cell.2017.03.027.

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