Invest Ophthalmol Vis Sci . 2023 Oct 3;64(13):32.
A Guardia, A Fernández, D Seruggia, V Chotard, C Sánchez-Castillo, O Kutsyr, X Sánchez-Sáez, E Zurita, M Cantero, A Rebsam, N Cuenca, L Montoliu
Abstract
Purpose: We aimed to generate and phenotype a mouse model of foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis (FHONDA), a rare disease associated with mutations in Slc38a8 that causes severe visual alterations similar to albinism without affecting pigmentation.
Methods: The FHONDA mouse model was generated with clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 technology using an RNA guide targeting the Scl38a8 murine locus. The resulting mice were backcrossed to C57BL/6J. Melanin content was measured using spectrophotometry. Retinal cell architecture was analyzed through light and electron microscopy. Retinal projections to the brain were evaluated with anterograde labelling in embryos and adults. Visual function was assessed by electroretinography (ERG) and the optomotor test (OT).
Results: From numerous Slc38a8 mouse mutant alleles generated, we selected one that encodes a truncated protein (p.196Pro*, equivalent to p.199Pro* in the human protein) closely resembling a mutant allele described in patients (p.200Gln*). Slc38a8 mutant mice exhibit wild-type eye and coat pigmentation with comparable melanin content. Subcellular abnormalities were observed in retinal pigment epithelium cells of Slc38a8 mutant mice. Anterograde labeling experiments of retinal projections in embryos and adults showed a reduction of ipsilateral fibers. Functional visual analyses revealed a decreased ERG response in scotopic conditions and a reduction of visual acuity in mutant mice measured by OT.
Conclusions: Slc38a8 mutant mice recapitulate the phenotype of patients with FHONDA concerning their normal pigmentation and their abnormal visual system, in the latter being a hallmark of all types of albinism. These mice will be helpful in better understanding the pathophysiology of this genetic condition.
doi: 10.1167/iovs.64.13.32.
The Spanish Association of Scientists (Asociación Española de Científicos, AEC) has awarded the AEC PLAQUE OF HONOR 2018 to Lluís Montoliu in acknowledgment of his internationally relevant research in the field of genomic regulation and the development of animal models of rare diseases, as well as for his dissemination activities, with special emphasis on contact with patients and transparency in animal experimentation.
The AEC, founded in 1971, has granted these AEC Honor Plaques annually already for more than 20 years to scientists and professionals, as well as to companies, associations and institutions that stand out for their contributions to RDI in Spain. The distinctions will be presented in November in Madrid during the Annual Dinner of the AEC.
12ª edición del Premio ISTT concedida a Lluis Montoliu, científico del Centro Nacional de Biotecnología del CSIC (CNB-CSIC). El galardón reconoce las aportaciones de sus investigaciones con YAC a la expresión de transgenes en ratones modificados genéticamente. El premio también es un homenaje a su papel esencial en la ISTT, de la que fue el primer presidente.
Trends in Microbiology. 2016 July. doi: 10.1016/j.tim.2016.06.005
Francisco J.M. Mojica and Lluis Montoliu
Two outstanding representatives of CRISPR-Cas have come together to tell the story of a technique that, based on a secret closly guarded by bacteria for millions of years , has revolutionized the world of genetic editing. In a review article, the authors pay homage to basic research that, sooner or later, yields benefits.
Breaking-Cas is a web tool, developed at the Centro Nacional de Biotecnología of the CSIC (CNB-CSIC), that facilitates the design of gene editing experiments using the well-known CRISPR/Cas technique.The programme enables the design of the guide RNA (gRNA) needed for this technique, which is specific for each experiment.The software will allow researchers around the world to carry out CRISPR genome editing in nearly 700 eukaryotic organisms.
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