Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies.
The interphotoreceptor matrix is a unique extracellular matrix occupying the space between the photoreceptors and the retinal pigment epithelium. Due to its putative function in the maintenance and integrity of the photoreceptor cells, it is conceivable that it is involved in retinal degeneration processes. More recently, a novel gene encoding a 150-kDa interphotoreceptor matrix proteoglycan, designated IMPG1, was cloned and shown to be expressed in both rod and cone photoreceptor cells. To assess this gene in human retinal dystrophies, we have now determined the genomic organization and chromosome location of IMPG1. It is composed of 17 exons ranging from 21 to 533 bp, including an alternatively spliced exon 2. Using somatic cell hybrid mapping and FISH analysis, we have assigned the IMPG1 locus to 6q13-->q15. As this interval overlaps with the chromosomal loci of several human retinopathies, including autosomal dominant Stargardt-like macular dystrophy (STGD3), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1), IMPG1 represents an attractive candidate for these 6q-linked disorders.
Institut für Humangenetik, Biozentrum, Universität Würzburg, Würzburg (Germany).
U
U
Felbor
A
A
Gehrig
C G
CG
Sauer
A
A
Marquardt
M
M
Köhler
M
M
Schmid
B H
BH
Weber
D017398:Alternative Splicing / Q000235:genetics; D002531:Cerebellum / Q000737:chemistry; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D018076:DNA, Complementary / Q000032:analysis / Q000235:genetics; D016208:Databases, Factual; D005091:Exons / Q000235:genetics; D005109:Extracellular Matrix / Q000737:chemistry / Q000378:metabolism; D016326:Extracellular Matrix Proteins; D005136:Eye Proteins; D015870:Gene Expression / Q000235:genetics; D005796:Genes / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns / Q000235:genetics; D008168:Lung / Q000737:chemistry; D008969:Molecular Sequence Data; D010786:Photoreceptor Cells / Q000737:chemistry / Q000378:metabolism; D011509:Proteoglycans / Q000235:genetics*; D012313:RNA / Q000032:analysis / Q000235:genetics; D012160:Retina / Q000737:chemistry
D018076:DNA, Complementary; D016326:Extracellular Matrix Proteins; D005136:Eye Proteins; D006023:Glycoproteins; C486428:IMPG1 protein, human; D011509:Proteoglycans; D012313:RNA