Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree,

Richards, Julia E.; Ritch, Robert; Lichter, Paul R.; Rozsa, Frank W.; Stringham, Heather M.; Caronia, Ronald M.; Johnson, Dennis E.; Abundo, G.; Willcockson, John; Downs, J. Crawford; Thompson, Debra A.; Musarella, Maria A.; Gupta, Neeru; Othman, Mohammad; Torrez, Daniel M.; Herman, Sarah B.; Wong, Deborah J.; Higashi, Misao; Boehnke, Michael

doi:10.1016/s0161-6420(98)99041-8

Cited by 49 publications

(25 citation statements)

References 29 publications

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“…In addition, we found a human homologue of the rat neuronal AMZ protein (Karavanich & Anholt, 1998). These observations together with the discovery of the glaucoma-associated TIGR\myocilin protein, which contains an olfactomedin homology domain (Sarfarazi, 1997 ;Stoilova et al, 1997 ;Stone et al, 1997 ;Adam et al, 1997 ;Morissette et al, 1998 ;Alward et al, 1998 ;Richards et al, 1998), suggested that a family of proteins with olfactomedin homology domains may exist in the human genome. This realization motivated us to search the GenBank data base for olfactomedinrelated sequences and led to the discovery of five distinct genes encoding olfactomedin-related proteins, including the TIGR\myocilin gene.…”

Section: (I) Identification Of a Family Of Olfactomedin-related Protementioning

confidence: 56%

“…Mutations in this protein are closely associated with primary open angle glaucoma (Sarfarazi, 1997 ;Stoilova et al, 1997 ;Stone et al, 1997 ;Adam et al, 1997 ;Morissette et al, 1998 ;Alward et al, 1998 ;Richards et al, 1998), a disease characterized by ocular hypertension and progressive degeneration of the optic nerve that affects 1 out of 100 individuals over the age of 40 years (for reviews see Shields et al, 1996 andSarfarazi, 1997). The TIGR\myocilin protein has a distinct olfactomedin homology domain (Ortego et al, 1997 ;Kubota et al, 1997 ;Adam et al, 1997 ;Morisette et al, 1998) and linkage studies showed that polymorphisms that predispose to the development of -especially juvenile onset -glaucoma are localized primarily in this olfactomedin homology domain (Sarfarazi, 1997 ;Stoilova et al, 1997 ;Stone et al, 1997 ;Adam et al, 1997 ;Morissette et al, 1998 ;Alward et al, 1998 ;Richards et al, 1998).…”

Section: Introductionmentioning

confidence: 99%

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Characterization and differential expression of a human gene family of olfactomedin-related proteins

et al. 2000

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Olfactomedin-related proteins are secreted glycoproteins with conserved C-terminal motifs. Olfactomedin was originally identified as the major component of the mucus layer that surrounds the chemosensory dendrites of olfactory neurons. Homologues were subsequently found also in other tissues, including the brain and in species ranging from Caenorhabditis elegans to Homo sapiens. Most importantly, the TIGR/myocilin protein, expressed in the eye and associated with the pathogenesis of glaucoma, is an olfactomedin-related protein. The prevalence of olfactomedin-related proteins among species and their identification in different tissues prompted us to investigate whether a gene family exists within a species, specifically Homo sapiens. A GenBank search indeed revealed an entire human gene family of olfactomedin-related proteins with at least five members, designated hOlfA through hOlfD and the TIGR/myocilin protein. hOlfA corresponds to the rat neuronal AMZ protein. Phylogenetic analyses of 18 olfactomedin-related sequences resolved four distinct subfamilies. Among the human proteins, hOlfA and hOlfC, both expressed in brain, are most closely related. Northern blot analyses of 16 human tissues demonstrated highly specific expression patterns: hOlfA is expressed in brain, hOlfB in pancreas and prostate, hOlfC in cerebellum, hOlfD in colon, small intestine and prostate and TIGR/myocilin in heart and skeletal muscle. The link between TIGR/myocilin and ocular hypertension and the expression of several of these proteins in mucus-lined tissues suggest that they play an important role in regulating physical properties of the extracellular environment. Future studies can now assess whether other members of this gene family, like TIGR/myocilin, are also associated with human disease processes.

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Section: (I) Identification Of a Family Of Olfactomedin-related Protementioning

confidence: 56%

Section: Introductionmentioning

confidence: 99%

Characterization and differential expression of a human gene family of olfactomedin-related proteins

et al. 2000

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“…Of these 12 sequence changes, 5 were found only in Japanese. Arg158Gln may also be a specific sequence change in Japanese, because it has not been found, despite the screening of more than 2000 patients with OAG and more than 1000 control subjects, in other ethnic groups (Adam et al 1997;Stoilova et al 1997Stoilova et al , 1998Allingham et al 1998;Angius et al 1998;Brezin et al 1998;Kennan et al 1998;Michels-Rautenstrauss et al 1998;Morissette et al 1998;Richards et al 1998;Wiggs et al 1998;Damji et al 1999;Fingert et al 1999;Yoon et al 1999;Lam et al 2000). Arg158Gln was reported as a probable disease-causing mutation because it has previously been found only in a 12-year-old OAG patient without increased IOP (Kubota et al 2000).…”

Section: Discussionmentioning

confidence: 99%

A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein

et al. 2001

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The myocilin/trabecular meshwork-inducible glucocorticoid response (MYOC/TIGR) gene was identified as a gene that caused open angle glaucoma (OAG). Singlestrand conformation polymorphism analysis and subsequent sequence analysis were performed for the MYOC/ TIGR gene in 120 unrelated Japanese OAG patients with increased intraocular pressure (IOP), 116 unrelated OAG patients without increased IOP, and 106 unrelated control subjects without glaucoma. An Arg158Gln sequence change in the leucine zipper-like motif (LZM) region in the myosin-homology domain was found in 2 OAG patients with or without increased IOP, and in a 56-year-old control subject without glaucoma. This is the first report of missense sequence change in the LZM region of the MYOC/TIGR protein in subjects showing various phenotypes, including a control subject. These findings suggest that Arg158Gln in the LZM region is probably a rare nondisease-causing polymorphism, despite its important role in this region, because it was found in a control subject, although Arg158Gln was previously reported as a probable diseasecausing mutation.

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“…The deCODE genetic map was used for the marker locations (Kong et al 2002). 1995), is a rare disorder that results in high intraocular pressure, usually requiring surgical therapy. JOAG is typically inherited as an autosomal dominant trait, and one gene, myocilin (MYOC [MIM 601652]), has been associated with this condition (Adam et al 1997;Stone et al 1997;Richards et al 1998;Wiggs et al 1998). MYOC was originally identified as a glucocorticoid response protein in cultured human trabecular meshwork cells ).…”

Section: Figurementioning

confidence: 99%

A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12

Wiggs¹,

Ynagi²,

Maselli³

et al. 2004

American Journal of Ophthalmology

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Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree,

Cited by 49 publications

References 29 publications

Characterization and differential expression of a human gene family of olfactomedin-related proteins

Characterization and differential expression of a human gene family of olfactomedin-related proteins

A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein

A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12

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