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Ann H. Milam, Anita E. Hendrickson, Ming Xiao, Julie E. Smith, Daniel E. Possin, Sinoj K. John, Patsy M. Nishina; Localization of Tubby-like Protein 1 in Developing and Adult Human Retinas. Invest. Ophthalmol. Vis. Sci. 2000;41(8):2352-2356.
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purpose. To localize tubby-like protein 1 (TULP1) in developing and adult human retinas.
methods. TULP1 was localized by immunofluorescence microscopy in human retinas,
aged 8.4 fetal weeks to adult. TULP1-positive cells were identified by
double labeling with antibodies specific for cones, rods, and astrocytes.
results. In adult retinas, anti-TULP1 labels cone and rod inner segments,
somata, and synapses; outer segments are TULP1-negative. A few inner
nuclear and ganglion cells are weakly TULP1- positive. In fetal
retinas, cells at the outer retinal border are TULP1-positive at 8.4
weeks. At 11 weeks, the differentiating central cones are strongly
TULP1-reactive and some are positive for blue cone opsin. At 15.4
weeks, all central cones are strongly positive for TULP1 and many are
reactive for red/green cone opsin. At 17.4 weeks, central rods are
weakly TULP-reactive. In peripheral retina at 15.4 weeks to 1 month
after birth, displaced cones in the nerve fiber layer are positive for
TULP1, recoverin, and blue cone opsin. Some ganglion cells are weakly
reactive for TULP1 at 11 weeks and later, but astrocytes and the optic
nerve are TULP1-negative at all ages examined.
conclusions. The finding of TULP1 labeling of cones before they are reactive for
blue or red/green cone opsin suggests an important role for TULP1 in
development. TULP1 expression in both developing and mature cones and
rods is consistent with a primary photoreceptor defect in retinitis
pigmentosa (RP) caused by TULP1 mutations. Weak
TULP1-immunolabeling of some inner retinal neurons in developing and
adult retinas suggests that optic disc changes in patients with RP who
have TULP1 mutations may be primary as well as secondary to
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