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Aman Chandra, Phillippa Cottrill, Megan F. Jones, Karen Eastlake, G Astrid Limb, David G. Charteris; Adamtsl4 Expression Within Human Ocular Tissue. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1051.
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Mutations in ADAMTSL4 have been established as a cause for isolated ectopia lentis. However, the true expression of ADAMTS-Like 4 within the human eye has not clearly been established. We aimed to investigate the anatomical expression of this protein in cadaveric human ocular tissue.
Ocular tissue obtained was obtained from Moorfields Eye Bank. Iris, retina and choroid from 5 eyes were individually dissected. Half of each specimen was fixed in 4% paraformaldehyde and cryopreserved with 30% sucrose. After embedding in OCT, cryostat sections were prepared from these tissues for immunohistochemical staining. mRNA and protein was extracted from the remaining unfixed tissues using standard methods for identification of ADAMTS Like 4 mRNA and protein expression.
Expression of mRNA coding for ADAMTSL4 was observed in human iris and choroid but not in the neural retina. Western blotting of extracted protein showed that ADAMTS-Like 4 is expressed in iris, choroid and neural retina. In addition, immuno-histochemical staining of the tissues investigated showed that ADAMTS-Like 4 was expressed in all three tissue.
ADAMTSL4 has recently been shown to co-localise with FBN1 and accelerates microfibril biogenesis. However, FBN1 has not been shown to be expressed in retina, but abundantly in choroid and iris. Our data of mRNA expression in choroid and iris, but not in retina coincides well with this. However the discordant pattern of expression of protein and mRNA in the retina may represent post translational modification or processing resulting in migration of gene products to different tissue.
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