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Markus H. Kuehn, Edwin M. Stone, Gregory S. Hageman; Organization of the Human IMPG2 Gene and Its Evaluation as a Candidate Gene in Age-Related Macular Degeneration and Other Retinal Degenerative Disorders. Invest. Ophthalmol. Vis. Sci. 2001;42(13):3123-3129. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
purpose. To characterize the genomic organization of human IMPG2,
the gene encoding the retinal interphotoreceptor matrix (IPM)
proteoglycan IPM 200, to evaluate its relationship to IPM 150, and to
evaluate its involvement in inherited retinopathies, such as
age-related macular degeneration, retinitis pigmentosa, and Leber
methods. After isolation of human genomic clones, the structure of IMPG2 was determined by sequence analysis. Mutational
analyses were conducted on genomic DNA isolated from 316 probands using
single-strand conformation polymorphism analysis.
results. The IMPG2 gene is organized into 19 exons, and the
structure of the gene is highly similar to that of the IMPG1 gene, which encodes another retinal proteoglycan,
IPM 150. Mutational analyses indicate that the observed sequence
changes are present at approximately equal rates in donors with and
without retinal disease. Additional data derived from RT-PCR and
Northern blot analysis show that IMPG2 is processed in
the human retina into multiple alternatively sized transcripts that may
represent splicing isoforms.
conclusions. Analysis of the overall relationship of human IMPG2 (located on chromosome 3q12.2-12.3) to human IMPG1 (located on chromosome 6q14) suggests that these genes have evolved
from a common ancestral gene. Although this is an excellent candidate
gene for hereditary retinopathies, single-strand conformation
polymorphism analyses provided no evidence that variations in IMPG2 coding region are responsible for the inherited
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