---
_id: '283'
abstract:
- lang: eng
  text: Light represents the principal signal driving circadian clock entrainment.
    However, how light influences the evolution of the clock remains poorly understood.
    The cavefish Phreatichthys andruzzii represents a fascinating model to explore
    how evolution under extreme aphotic conditions shapes the circadian clock, since
    in this species the clock is unresponsive to light. We have previously demonstrated
    that loss-of-function mutations targeting non-visual opsins contribute in part
    to this blind clock phenotype. Here, we have compared orthologs of two core clock
    genes that play a key role in photic entrainment, cry1a and per2, in both zebrafish
    and P. andruzzii. We encountered aberrantly spliced variants for the P. andruzzii
    per2 transcript. The most abundant transcript encodes a truncated protein lacking
    the C-terminal Cry binding domain and incorporating an intronic, transposon-derived
    coding sequence. We demonstrate that the transposon insertion leads to a predominantly
    cytoplasmic localization of the cavefish Per2 protein in contrast to the zebrafish
    ortholog which is distributed in both the nucleus and cytoplasm. Thus, it seems
    that during evolution in complete darkness, the photic entrainment pathway of
    the circadian clock has been subject to mutation at multiple levels, extending
    from opsin photoreceptors to nuclear effectors.
article_number: '8754'
article_processing_charge: No
author:
- first_name: Rosa Maria
  full_name: Ceinos, Rosa Maria
  last_name: Ceinos
- first_name: Elena
  full_name: Frigato, Elena
  last_name: Frigato
- first_name: Cristina
  full_name: Pagano, Cristina
  last_name: Pagano
- first_name: Nadine
  full_name: Frohlich, Nadine
  last_name: Frohlich
- first_name: Pietro
  full_name: Negrini, Pietro
  last_name: Negrini
- first_name: Nicola
  full_name: Cavallari, Nicola
  id: 457160E6-F248-11E8-B48F-1D18A9856A87
  last_name: Cavallari
- first_name: Daniela
  full_name: Vallone, Daniela
  last_name: Vallone
- first_name: Silvia
  full_name: Fuselli, Silvia
  last_name: Fuselli
- first_name: Cristiano
  full_name: Bertolucci, Cristiano
  last_name: Bertolucci
- first_name: Nicholas S
  full_name: Foulkes, Nicholas S
  last_name: Foulkes
citation:
  ama: Ceinos RM, Frigato E, Pagano C, et al. Mutations in blind cavefish target the
    light regulated circadian clock gene period 2. <i>Scientific Reports</i>. 2018;8(1).
    doi:<a href="https://doi.org/10.1038/s41598-018-27080-2">10.1038/s41598-018-27080-2</a>
  apa: Ceinos, R. M., Frigato, E., Pagano, C., Frohlich, N., Negrini, P., Cavallari,
    N., … Foulkes, N. S. (2018). Mutations in blind cavefish target the light regulated
    circadian clock gene period 2. <i>Scientific Reports</i>. Nature Publishing Group.
    <a href="https://doi.org/10.1038/s41598-018-27080-2">https://doi.org/10.1038/s41598-018-27080-2</a>
  chicago: Ceinos, Rosa Maria, Elena Frigato, Cristina Pagano, Nadine Frohlich, Pietro
    Negrini, Nicola Cavallari, Daniela Vallone, Silvia Fuselli, Cristiano Bertolucci,
    and Nicholas S Foulkes. “Mutations in Blind Cavefish Target the Light Regulated
    Circadian Clock Gene Period 2.” <i>Scientific Reports</i>. Nature Publishing Group,
    2018. <a href="https://doi.org/10.1038/s41598-018-27080-2">https://doi.org/10.1038/s41598-018-27080-2</a>.
  ieee: R. M. Ceinos <i>et al.</i>, “Mutations in blind cavefish target the light
    regulated circadian clock gene period 2,” <i>Scientific Reports</i>, vol. 8, no.
    1. Nature Publishing Group, 2018.
  ista: Ceinos RM, Frigato E, Pagano C, Frohlich N, Negrini P, Cavallari N, Vallone
    D, Fuselli S, Bertolucci C, Foulkes NS. 2018. Mutations in blind cavefish target
    the light regulated circadian clock gene period 2. Scientific Reports. 8(1), 8754.
  mla: Ceinos, Rosa Maria, et al. “Mutations in Blind Cavefish Target the Light Regulated
    Circadian Clock Gene Period 2.” <i>Scientific Reports</i>, vol. 8, no. 1, 8754,
    Nature Publishing Group, 2018, doi:<a href="https://doi.org/10.1038/s41598-018-27080-2">10.1038/s41598-018-27080-2</a>.
  short: R.M. Ceinos, E. Frigato, C. Pagano, N. Frohlich, P. Negrini, N. Cavallari,
    D. Vallone, S. Fuselli, C. Bertolucci, N.S. Foulkes, Scientific Reports 8 (2018).
date_created: 2018-12-11T11:45:36Z
date_published: 2018-06-08T00:00:00Z
date_updated: 2023-09-13T08:59:27Z
day: '08'
ddc:
- '570'
department:
- _id: EvBe
doi: 10.1038/s41598-018-27080-2
external_id:
  isi:
  - '000434640800008'
file:
- access_level: open_access
  checksum: 9c3942d772f84f3df032ffde0ed9a8ea
  content_type: application/pdf
  creator: dernst
  date_created: 2018-12-17T13:04:46Z
  date_updated: 2020-07-14T12:45:49Z
  file_id: '5707'
  file_name: 2018_ScientificReports_Ceinos.pdf
  file_size: 1855324
  relation: main_file
file_date_updated: 2020-07-14T12:45:49Z
has_accepted_license: '1'
intvolume: '         8'
isi: 1
issue: '1'
language:
- iso: eng
license: https://creativecommons.org/licenses/by/4.0/
month: '06'
oa: 1
oa_version: Published Version
publication: Scientific Reports
publication_status: published
publisher: Nature Publishing Group
publist_id: '7616'
quality_controlled: '1'
scopus_import: '1'
status: public
title: Mutations in blind cavefish target the light regulated circadian clock gene
  period 2
tmp:
  image: /images/cc_by.png
  legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
  name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
  short: CC BY (4.0)
type: journal_article
user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1
volume: 8
year: '2018'
...
