Thyroid hormone receptor beta mutations alter photoreceptor development and function in Danio rerio (zebrafish)


Autoři: Ciana Deveau aff001;  Xiaodong Jiao aff002;  Sachihiro C. Suzuki aff003;  Asha Krishnakumar aff001;  Takeshi Yoshimatsu aff004;  J Fielding Hejtmancik aff002;  Ralph F. Nelson aff001
Působiště autorů: National Institute of Neurological Disorders and Stroke, National Institutes of Health, Rockville, Maryland, United States of America aff001;  National Eye Institute, National Institutes of Health, Rockville, Maryland, United States of America aff002;  Okinawa Institute of Science and Technology Graduate University, Okinawa, Japan aff003;  University of Sussex, Brighton, United Kingdom aff004
Vyšlo v časopise: Thyroid hormone receptor beta mutations alter photoreceptor development and function in Danio rerio (zebrafish). PLoS Genet 16(6): e32767. doi:10.1371/journal.pgen.1008869
Kategorie: Research Article
doi: 10.1371/journal.pgen.1008869

Souhrn

We investigate mutations in trβ2, a splice variant of thrb, identifying changes in function, structure, and behavior in larval and adult zebrafish retinas. Two N-terminus CRISPR mutants were identified. The first is a 6BP+1 insertion deletion frameshift resulting in a truncated protein. The second is a 3BP in frame deletion with intact binding domains. ERG recordings of isolated cone signals showed that the 6BP+1 mutants did not respond to red wavelengths of light while the 3BP mutants did respond. 6BP+1 mutants lacked optomotor and optokinetic responses to red/black and green/black contrasts. Both larval and adult 6BP+1 mutants exhibit a loss of red-cone contribution to the ERG and an increase in UV-cone contribution. Transgenic reporters show loss of cone trβ2 activation in the 6BP+1 mutant but increase in the density of cones with active blue, green, and UV opsin genes. Antibody reactivity for red-cone LWS1 and LWS2 opsin was absent in the 6BP+1 mutant, as was reactivity for arrestin3a. Our results confirm a critical role for trβ2 in long-wavelength cone development.

Klíčová slova:

Eyes – Fish physiology – Fluorescence imaging – Frameshift mutation – Larvae – Photoreceptors – Retina – Zebrafish


Zdroje

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Genetika Reprodukční medicína

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