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• F, a.; P-J, e.;r, M.; k, e; G-d, r. CERKL, a
Most relevant athinaJaFabadiéreziMénezieranechtonzálezuarte
retinal disease gene,encodes an mRNA-biding protein that localizes in compact and
scientific unstranslated mRNPs associated to microtubules. PLoS One 9 (2): e87898, 2014.

articles
• castro-Miró, M.; PoMares, e.; lorés-Motta, l.; tonda r.; doPazo, J.; MarFany, G.; Gon-
zález-duarte, r. Combined genetic and high-throughput strategies for the molecular

diagnosis of inherited retinal dystrophies. PLoS One 9 (2): e88410, 2014.

• riera, M.; burGuera, d.; García-Fernàndez, J.; Gonzàlez-duarte, r. CERKL Knockdown
Causes Retinal Degeneration in Zebrafish. PLoS One 8 (5) e64048, 2013.

• G, a.; M, n.a.; e-G, M.; M, G.; F, G.; a, r.e.;
arantoandalGidoabásarFanyabriàsnderson
casas, J.; Gonzàlez-duarte, r. Specific sphingolipid content decrease in Cerkl knock-
down mouse retinas. Experimental Eye Research 110: 96-106, 2013.

• G a.; V-t J.; r M.; V P.; G-d r.; b r.;
arantoicenteeJedorierade la illaonzálezuartelanco
MarFany G. The use of alternative promoters turns a targeted knockout of the Re-
tinitis Pigmentosa gene Cerkl into a knockdown with mild affectation of the retinal

ganglion cell layer. Biochimica et Biophysica Acta-Molecular Basis of Disease 1822:

1258 -1269, 2012.

•
Highlights
The function of CERKL (CERamide Kinase Like), a causative gene of retinitis
pigmentosa and cone-rod dystrophy, still awaits characterization. To approach

its cellular role, we have investigated the subcellular localization and interac-
tion partners of the full length CERKL isoform in different cell lines, including

a photoreceptor-derived cell line. We have shown that CERKLa is a main com-

ponent of compact and untranslated mRNPs and that it associates with other
RNP complexes such as stress granules, P-bodies and polysomes. These results

support an unexpected role of CERKL in controlling the stability, transport and/or

translation of mRNAs. These functions had not been reported previously for any
member of the retinal disorders gene family and highlight new cellular pathways

and molecular targets to be considered when investigating the pathogenic me-
chanisms of these diseases. (Ref 1)

•
We have undertaken the construction and optimization of a comprehensive co-
segregation RD-chip based on SNP genotyping and haplotype analysis to diag-

nose a panel of Spanish families. The RD-chip allowed to genotype 768 selected
SNPs (closely linked to 100 RD causative genes) in a single cost-, time-effective

step. Full diagnosis was attained in 17/36 Spanish pedigrees, yielding 12 new

and 12 previously reported mutations in 9 RD genes. The most frequently mu-
tated genes were USH2A and CRB1. The chip analysis also highlighted families

for novel RD gene search. Overall, the RD-chip diagnosis efficiency is over 47%,

well within the upper range of the massive sequencing approaches used at pre-
sent. (Ref 2)
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• Cerkl is a single copy gene with a major isoform that is expressed in the retina 20
T
of zebrafish (Danio rerio). Morpholino injection has been used to generate a OR
P
Cerkl knockdown model of retinal degeneration in this animal. Cerkl expression RE
has been decreased by 95%. The morphant phenotype results in abnormal eye L
A
development with lamination defects, failure to develop photoreceptor outer NU
segments, increased apoptosis of retinal cells and small eyes. This zebrafish N
A
model is a powerful tool to unveil CERKL contribution to human retinal degene- R /
E
ration. (Ref 3)
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