Purchase this article with an account.
Qin Liu, Jie Zhou, Stephen P. Daiger, Debora B. Farber, John R. Heckenlively, Julie E. Smith, Lori S. Sullivan, Jian Zuo, Ann H. Milam, Eric A. Pierce; Identification and Subcellular Localization of the RP1 Protein in Human and Mouse Photoreceptors. Invest. Ophthalmol. Vis. Sci. 2002;43(1):22-32.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
purpose. Mutations in the RP1 gene account for 6% to 10% of
autosomal dominant retinitis pigmentosa (adRP). Previous studies have
shown that the RP1 gene is expressed specifically in
photoreceptor cells. So far, little is known about the RP1 protein or
how mutations in RP1 lead to photoreceptor cell death.
The goal of this study was to identify the RP1 protein and investigate
its location in photoreceptor cells.
methods. A combination of RT-PCR and rapid amplification of cDNA ends (RACE) was
used to isolate the full-length mouse Rp1 cDNA.
Antibodies against different regions of the predicted mouse Rp1 protein
were generated. Western blot analyses were used to identify the RP1/Rp1
proteins. The subcellular location of RP1 in human and mouse retinas
was determined by immunostaining retinal sections.
results. The full-length mouse Rp1 cDNA is 6944 bp, encoding a
predicted protein of 2095 amino acids. Rp1 was found to be a soluble
protein of approximately 240 kDa, consistent with predictions based on
the cDNA sequence. Immunofluorescence analyses revealed that both the
human RP1 and mouse Rp1 proteins are specifically localized in the
connecting cilia of rod and cone photoreceptors.
conclusions. The presence of RP1/Rp1 in connecting cilia suggests that it may
participate in transport of proteins between the inner and outer
segments of photoreceptors or in maintenance of cilial structure. This
study forms the basis for further investigation of the function of RP1
in retina and the mechanism by which mutations in RP1 lead to photoreceptor cell death.
This PDF is available to Subscribers Only