Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma
Identifieur interne : 002242 ( Istex/Corpus ); précédent : 002241; suivant : 002243Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma
Auteurs : Marie F. Adam ; Ahmed Belmouden ; Philippe Binisti ; Antoine P. Brézin ; Françoise Valtot ; Alain Béchetoille ; Jean-Claude Dascotte ; Bruno Copin ; Lucienne Gomez ; André Chaventré ; Jean-François Bach ; Henri-Jean GarchonSource :
- Human Molecular Genetics [ 0964-6906 ] ; 1997-11.
Abstract
Primary open-angle glaucoma (POAG) is a highly prevalent cause of irreversible blindness which associates cupping of the optic disc and alteration of the visual field, elevation of intraocular pressure being a major risk factor. Provided diagnosis is made at an early stage, treatments are available to prevent visual impairment. A locus, GLC1A, has been mapped on chromosome 1q23ȓq25 in several families affected with juvenile-onset POAG (JOAG) and also in some families affected with juvenile and middle-age onset POAG. Recently, three mutations of the TIGR (Trabecular meshwork-Induced Glucocorticoid Response) gene were shown to be responsible for the disease in several American families and in unrelated POAG patients. We now describe five new mutations in eight French families. All mutations known to date appear to concentrate in the evolutionarily conserved C-terminal domain of TIGR which bears homology to frog olfactomedin, an extracellular matrix glycoprotein of the olfactory epithelium, to rat and human neuronal olfactomedin-related proteins and to F11C3.2, a protein from Caenorhabditis elegans. Moreover, this conserved domain of TIGR is encoded by a single exon to which mutation screening could be limited. Surprisingly, the TIGR message, which is abundantly transcribed in the trabecular meshwork and also in the ciliary body and the sclera, is not expressed in the optic nerve whose degeneration is, however, the primary lesion of POAG.
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DOI: 10.1093/hmg/6.12.2091
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<front><div type="abstract">Primary open-angle glaucoma (POAG) is a highly prevalent cause of irreversible blindness which associates cupping of the optic disc and alteration of the visual field, elevation of intraocular pressure being a major risk factor. Provided diagnosis is made at an early stage, treatments are available to prevent visual impairment. A locus, GLC1A, has been mapped on chromosome 1q23ȓq25 in several families affected with juvenile-onset POAG (JOAG) and also in some families affected with juvenile and middle-age onset POAG. Recently, three mutations of the TIGR (Trabecular meshwork-Induced Glucocorticoid Response) gene were shown to be responsible for the disease in several American families and in unrelated POAG patients. We now describe five new mutations in eight French families. All mutations known to date appear to concentrate in the evolutionarily conserved C-terminal domain of TIGR which bears homology to frog olfactomedin, an extracellular matrix glycoprotein of the olfactory epithelium, to rat and human neuronal olfactomedin-related proteins and to F11C3.2, a protein from Caenorhabditis elegans. Moreover, this conserved domain of TIGR is encoded by a single exon to which mutation screening could be limited. Surprisingly, the TIGR message, which is abundantly transcribed in the trabecular meshwork and also in the ciliary body and the sclera, is not expressed in the optic nerve whose degeneration is, however, the primary lesion of POAG.</div>
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<abstract>Primary open-angle glaucoma (POAG) is a highly prevalent cause of irreversible blindness which associates cupping of the optic disc and alteration of the visual field, elevation of intraocular pressure being a major risk factor. Provided diagnosis is made at an early stage, treatments are available to prevent visual impairment. A locus, GLC1A, has been mapped on chromosome 1q23ȓq25 in several families affected with juvenile-onset POAG (JOAG) and also in some families affected with juvenile and middle-age onset POAG. Recently, three mutations of the TIGR (Trabecular meshwork-Induced Glucocorticoid Response) gene were shown to be responsible for the disease in several American families and in unrelated POAG patients. We now describe five new mutations in eight French families. All mutations known to date appear to concentrate in the evolutionarily conserved C-terminal domain of TIGR which bears homology to frog olfactomedin, an extracellular matrix glycoprotein of the olfactory epithelium, to rat and human neuronal olfactomedin-related proteins and to F11C3.2, a protein from Caenorhabditis elegans. Moreover, this conserved domain of TIGR is encoded by a single exon to which mutation screening could be limited. Surprisingly, the TIGR message, which is abundantly transcribed in the trabecular meshwork and also in the ciliary body and the sclera, is not expressed in the optic nerve whose degeneration is, however, the primary lesion of POAG.</abstract>
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<refBibs><json:item><author><json:item><name>M.C. Leske</name>
</json:item>
</author>
<host><volume>118</volume>
<pages><last>191</last>
<first>166</first>
</pages>
<author></author>
<title>Am. J. Epidemiol.</title>
</host>
<title>The epidemiology of open-angle glaucoma: a review</title>
</json:item>
<json:item><author><json:item><name>H.A. Quigley</name>
</json:item>
</author>
<host><volume>328</volume>
<pages><last>1106</last>
<first>1097</first>
</pages>
<author></author>
<title>N. Engl. J. Med.</title>
</host>
<title>Medical progress—open-angle glaucoma</title>
</json:item>
<json:item><author><json:item><name>M.A. Kass</name>
</json:item>
<json:item><name>M.O. Gordon</name>
</json:item>
<json:item><name>M.R. Hoff</name>
</json:item>
<json:item><name>J.M. Parkinson</name>
</json:item>
<json:item><name>A.E. Kolker</name>
</json:item>
<json:item><name>W.M. Hart</name>
</json:item>
<json:item><name>B. Becker</name>
</json:item>
</author>
<host><volume>107</volume>
<pages><last>1598</last>
<first>1590</first>
</pages>
<author></author>
<title>Arch. Ophthalmol.</title>
</host>
<title>Topical Timolol administration reduces the incidence of glaucomatous damage in ocular hypertensive individuals. A randomized, double-masked, long-term clinical trial</title>
</json:item>
<json:item><author><json:item><name>A.T. Johnson</name>
</json:item>
<json:item><name>A.V. Drack</name>
</json:item>
<json:item><name>A.E. Kwitek</name>
</json:item>
<json:item><name>R.L. Cannon</name>
</json:item>
<json:item><name>E.M. Stone</name>
</json:item>
<json:item><name>W.L.M. Alward</name>
</json:item>
</author>
<host><volume>100</volume>
<pages><last>529</last>
<first>524</first>
</pages>
<author></author>
<title>Ophthalmology</title>
</host>
<title>Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma</title>
</json:item>
<json:item><author><json:item><name>V.C. Sheffield</name>
</json:item>
<json:item><name>E.M. Stone</name>
</json:item>
<json:item><name>W.L.M. Alward</name>
</json:item>
<json:item><name>A.V. Drack</name>
</json:item>
<json:item><name>A.T. Johnson</name>
</json:item>
<json:item><name>L.M. Streb</name>
</json:item>
<json:item><name>B.E. Nichols</name>
</json:item>
</author>
<host><volume>4</volume>
<pages><last>50</last>
<first>47</first>
</pages>
<author></author>
<title>Nature Genet.</title>
</host>
<title>Genetic linkage of familial open angle glaucoma to chromosome-1q21–q31</title>
</json:item>
<json:item><author><json:item><name>J.E. Richards</name>
</json:item>
<json:item><name>P.R. Lichter</name>
</json:item>
<json:item><name>M. Boehnke</name>
</json:item>
<json:item><name>J.L.A. Uro</name>
</json:item>
<json:item><name>D. Torrez</name>
</json:item>
<json:item><name>D. Wong</name>
</json:item>
<json:item><name>A.T. Johnson</name>
</json:item>
</author>
<host><volume>54</volume>
<pages><last>70</last>
<first>62</first>
</pages>
<author></author>
<title>Am. J. Hum. Genet.</title>
</host>
<title>Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q</title>
</json:item>
<json:item><author><json:item><name>C. Graff</name>
</json:item>
<json:item><name>S.F. Urbak</name>
</json:item>
<json:item><name>T. Jerndal</name>
</json:item>
<json:item><name>C. Wadelius</name>
</json:item>
</author>
<host><volume>96</volume>
<pages><last>289</last>
<first>285</first>
</pages>
<author></author>
<title>Hum. Genet.</title>
</host>
<title>Confirmation of linkage to 1q21ȓ31 in a danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity</title>
</json:item>
<json:item><author><json:item><name>J. Morissette</name>
</json:item>
<json:item><name>G. Coté</name>
</json:item>
<json:item><name>J.L. Anctil</name>
</json:item>
<json:item><name>M. Plante</name>
</json:item>
<json:item><name>M. Amyot</name>
</json:item>
<json:item><name>E. Héon</name>
</json:item>
<json:item><name>G.E. Trope</name>
</json:item>
<json:item><name>J. Weissenbach</name>
</json:item>
<json:item><name>V. Raymond</name>
</json:item>
</author>
<host><volume>56</volume>
<pages><last>1442</last>
<first>1431</first>
</pages>
<author></author>
<title>Am. J. Hum. Genet.</title>
</host>
<title>A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q</title>
</json:item>
<json:item><author><json:item><name>A. Meyer</name>
</json:item>
<json:item><name>A. Béchetoille</name>
</json:item>
<json:item><name>F. Valtot</name>
</json:item>
<json:item><name>S.D. de Dinechin</name>
</json:item>
<json:item><name>M.F. Adam</name>
</json:item>
<json:item><name>A. Belmouden</name>
</json:item>
<json:item><name>A.P. Brézin</name>
</json:item>
<json:item><name>L. Gomez</name>
</json:item>
<json:item><name>J.F. Bach</name>
</json:item>
<json:item><name>H.J. Garchon</name>
</json:item>
</author>
<host><volume>98</volume>
<pages><last>571</last>
<first>567</first>
</pages>
<author></author>
<title>Hum. Genet.</title>
</host>
<title>Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome to (GLC1A) in a French family</title>
</json:item>
<json:item><author><json:item><name>A. Belmouden</name>
</json:item>
<json:item><name>M.F. Adam</name>
</json:item>
<json:item><name>S.D. de Dinechin</name>
</json:item>
<json:item><name>A.P. Brézin</name>
</json:item>
<json:item><name>P. Rigault</name>
</json:item>
<json:item><name>I. Chumakov</name>
</json:item>
<json:item><name>J.F. Bach</name>
</json:item>
<json:item><name>H.J. Garchon</name>
</json:item>
</author>
<host><volume>39</volume>
<pages><last>358</last>
<first>348</first>
</pages>
<author></author>
<title>Genomics</title>
</host>
<title>Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23–q25</title>
</json:item>
<json:item><author><json:item><name>E.M. Stone</name>
</json:item>
<json:item><name>J.H. Fingert</name>
</json:item>
<json:item><name>W.L.M. Alward</name>
</json:item>
<json:item><name>T.D. Nguyen</name>
</json:item>
<json:item><name>J.R. Polansky</name>
</json:item>
<json:item><name>S.L.F. Sunden</name>
</json:item>
<json:item><name>D. Nishimura</name>
</json:item>
<json:item><name>A.F. Clark</name>
</json:item>
<json:item><name>A. Nystuen</name>
</json:item>
<json:item><name>B.E. Nichols</name>
</json:item>
<json:item><name>D.A. MacKey</name>
</json:item>
<json:item><name>R. Ritch</name>
</json:item>
<json:item><name>J.W. Kalenak</name>
</json:item>
<json:item><name>E.R. Craven</name>
</json:item>
<json:item><name>V.C. Sheffield</name>
</json:item>
</author>
<host><volume>275</volume>
<pages><last>670</last>
<first>668</first>
</pages>
<author></author>
<title>Science</title>
</host>
<title>Identification of a gene that causes primary open angle glaucoma</title>
</json:item>
<json:item><author><json:item><name>M.B. Shapiro</name>
</json:item>
<json:item><name>P. Senapathy</name>
</json:item>
</author>
<host><volume>15</volume>
<pages><last>7174</last>
<first>7155</first>
</pages>
<author></author>
<title>Nucleic Acids Res.</title>
</host>
<title>RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression</title>
</json:item>
<json:item><author><json:item><name>S.Y. Tsai</name>
</json:item>
<json:item><name>J. Carlstedt-Duke</name>
</json:item>
<json:item><name>N.L. Weigel</name>
</json:item>
<json:item><name>K. Dahlman</name>
</json:item>
<json:item><name>J.A. Gustafsson</name>
</json:item>
<json:item><name>M.J. Tsai</name>
</json:item>
<json:item><name>B.W. O'Malley</name>
</json:item>
</author>
<host><volume>55</volume>
<pages><last>369</last>
<first>361</first>
</pages>
<author></author>
<title>Cell</title>
</host>
<title>Molecular interactions of steroid hormone receptor with its enhancer element: evidence for receptor dimer formation</title>
</json:item>
<json:item><author><json:item><name>M.K. Bagchi</name>
</json:item>
<json:item><name>J.F. Elliston</name>
</json:item>
<json:item><name>S.Y. Tsai</name>
</json:item>
<json:item><name>D.P. Edwards</name>
</json:item>
<json:item><name>M.J. Tsai</name>
</json:item>
<json:item><name>B.W. O'Malley</name>
</json:item>
</author>
<host><volume>2</volume>
<pages><last>1229</last>
<first>1221</first>
</pages>
<author></author>
<title>Mol. Endocrinol.</title>
</host>
<title>Steroid hormone-dependent interaction of human progesterone receptor with its target enhancer element</title>
</json:item>
<json:item><author><json:item><name>L.M. Khachigian</name>
</json:item>
<json:item><name>N. Resnick</name>
</json:item>
<json:item><name>J.R. Gimbrone Ma</name>
</json:item>
<json:item><name>T. Collins</name>
</json:item>
</author>
<host><volume>96</volume>
<pages><last>1175</last>
<first>1169</first>
</pages>
<author></author>
<title>J. Clin. Invest.</title>
</host>
<title>Nuclear factor-kappa B interacts functionally with the platelet-derived growth factor B-chain shear-stress response element in vascular endothelial cells exposed to fluid shear stress</title>
</json:item>
<json:item><author><json:item><name>S.J. Gould</name>
</json:item>
<json:item><name>G.A. Keller</name>
</json:item>
<json:item><name>S. Subramani</name>
</json:item>
</author>
<host><volume>107</volume>
<pages><last>905</last>
<first>897</first>
</pages>
<author></author>
<title>J. Cell Biol.</title>
</host>
<title>Identification of peroxisomal targeting signals located at the carboxy terminus of four peroxisomal proteins</title>
</json:item>
<json:item><author><json:item><name>A.P. Brézin</name>
</json:item>
<json:item><name>A. Béchetoille</name>
</json:item>
<json:item><name>P. Hamard</name>
</json:item>
<json:item><name>F. Valtot</name>
</json:item>
<json:item><name>M. Berkani</name>
</json:item>
<json:item><name>A. Belmouden</name>
</json:item>
<json:item><name>M.F. Adam</name>
</json:item>
<json:item><name>S. Dupont de Dinechin</name>
</json:item>
<json:item><name>J.F. Bach</name>
</json:item>
<json:item><name>H.J. Garchon</name>
</json:item>
</author>
<host><volume>34</volume>
<pages><last>552</last>
<first>546</first>
</pages>
<author></author>
<title>J. Med. Genet.</title>
</host>
<title>Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy</title>
</json:item>
<json:item><author><json:item><name>H. Yokoe</name>
</json:item>
<json:item><name>R.R. Anholt</name>
</json:item>
</author>
<host><volume>90</volume>
<pages><last>4659</last>
<first>4655</first>
</pages>
<author></author>
<title>Proc. Natl. Acad. Sci. USA</title>
</host>
<title>Molecular cloning of olfactomedin, an extracellular matrix protein specific to olfactory neuroepithelium</title>
</json:item>
<json:item><author><json:item><name>P.E. Danielson</name>
</json:item>
<json:item><name>S. Forss-Petter</name>
</json:item>
<json:item><name>E.L. Battenberg</name>
</json:item>
<json:item><name>L. de Lecea</name>
</json:item>
<json:item><name>F.E. Bloom</name>
</json:item>
<json:item><name>J.G. Sutcliffe</name>
</json:item>
</author>
<host><volume>38</volume>
<pages><last>478</last>
<first>468</first>
</pages>
<author></author>
<title>J. Neurosci. Res.</title>
</host>
<title>Four structurally distinct neuron-specific olfactomedin-related glycoproteins produced by differential promoter utilization and alternative mRNA splicing from a single gene</title>
</json:item>
<json:item><author><json:item><name>R. Kubota</name>
</json:item>
<json:item><name>S. Noda</name>
</json:item>
<json:item><name>Y. Wang</name>
</json:item>
<json:item><name>S. Minoshima</name>
</json:item>
<json:item><name>S. Asakawa</name>
</json:item>
<json:item><name>J. Kudoh</name>
</json:item>
<json:item><name>Y. Mashima</name>
</json:item>
<json:item><name>Y. Oguchi</name>
</json:item>
<json:item><name>N. Shimizu</name>
</json:item>
</author>
<host><volume>41</volume>
<pages><last>369</last>
<first>360</first>
</pages>
<author></author>
<title>Genomics</title>
</host>
<title>A novel Myosin-like protein (Myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression and chromosomal mapping</title>
</json:item>
<json:item><author><json:item><name>K.R. Kendell</name>
</json:item>
<json:item><name>H.A. Quigley</name>
</json:item>
<json:item><name>L.A. Kerrigan</name>
</json:item>
<json:item><name>M.E. Pease</name>
</json:item>
<json:item><name>E.N. Quigley</name>
</json:item>
</author>
<host><volume>36</volume>
<pages><last>205</last>
<first>200</first>
</pages>
<author></author>
<title>Invest. Ophthalmol. Vis. Sci.</title>
</host>
<title>Primary open-angle glaucoma is not associated with photoreceptor loss</title>
</json:item>
<json:item><author><json:item><name>J.E. Cairns</name>
</json:item>
</author>
<host><volume>66</volume>
<pages><last>679</last>
<first>673</first>
</pages>
<author></author>
<title>Am. J. Ophthalmol.</title>
</host>
<title>Trabeculectomy, preliminary report of a new method</title>
</json:item>
<json:item><author><json:item><name>P. Chomczynski</name>
</json:item>
<json:item><name>N. Sacchi</name>
</json:item>
</author>
<host><volume>162</volume>
<pages><last>159</last>
<first>156</first>
</pages>
<author></author>
<title>Anal. Biochem.</title>
</host>
<title>Single-step method of RNA isolation by acid-guanidinium-thiocyanate-phenol-chloroform extraction</title>
</json:item>
</refBibs>
<genre><json:string>research-article</json:string>
</genre>
<host><volume>6</volume>
<publisherId><json:string>hmg</json:string>
</publisherId>
<pages><last>2097</last>
<first>2091</first>
</pages>
<issn><json:string>0964-6906</json:string>
</issn>
<issue>12</issue>
<genre><json:string>journal</json:string>
</genre>
<language><json:string>unknown</json:string>
</language>
<eissn><json:string>1460-2083</json:string>
</eissn>
<title>Human Molecular Genetics</title>
</host>
<categories><wos><json:string>science</json:string>
<json:string>genetics & heredity</json:string>
<json:string>biochemistry & molecular biology</json:string>
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<scienceMetrix><json:string>health sciences</json:string>
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<author xml:id="author-1"><persName><forename type="first">Marie F.</forename>
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<affiliation>+These authors have contributed equally to this work</affiliation>
<affiliation>INSERM U25, Hôpital Necker, 161 rue de Sèvres, 75743 Paris cedex 15, France</affiliation>
</author>
<author xml:id="author-2"><persName><forename type="first">Ahmed</forename>
<surname>Belmouden</surname>
</persName>
<note type="biography">+These authors have contributed equally to this work</note>
<affiliation>+These authors have contributed equally to this work</affiliation>
<affiliation>INSERM U25, Hôpital Necker, 161 rue de Sèvres, 75743 Paris cedex 15, France</affiliation>
</author>
<author xml:id="author-3"><persName><forename type="first">Philippe</forename>
<surname>Binisti</surname>
</persName>
<affiliation>INSERM U25, Hôpital Necker, 161 rue de Sèvres, 75743 Paris cedex 15, France</affiliation>
</author>
<author xml:id="author-4"><persName><forename type="first">Antoine P.</forename>
<surname>Brézin</surname>
</persName>
<affiliation>INSERM U25, Hôpital Necker, 161 rue de Sèvres, 75743 Paris cedex 15, France</affiliation>
</author>
<author xml:id="author-5"><persName><forename type="first">Françoise</forename>
<surname>Valtot</surname>
</persName>
<affiliation>Institut du Glaucome, Hopital Saint-Joseph, Paris, France</affiliation>
</author>
<author xml:id="author-6"><persName><forename type="first">Alain</forename>
<surname>Béchetoille</surname>
</persName>
<affiliation>Service d'Ophtalmologie, C.H.U. Angers, Angers, France</affiliation>
</author>
<author xml:id="author-7"><persName><forename type="first">Jean-Claude</forename>
<surname>Dascotte</surname>
</persName>
<affiliation>Service d'Ophtalmologie, C.H.U. Lille, Lille, France</affiliation>
</author>
<author xml:id="author-8"><persName><forename type="first">Bruno</forename>
<surname>Copin</surname>
</persName>
<affiliation>INSERM U25, Hôpital Necker, 161 rue de Sèvres, 75743 Paris cedex 15, France</affiliation>
</author>
<author xml:id="author-9"><persName><forename type="first">Lucienne</forename>
<surname>Gomez</surname>
</persName>
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</author>
<author xml:id="author-10"><persName><forename type="first">André</forename>
<surname>Chaventré</surname>
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<affiliation>Laboratoire d'Anthropologie et de Démographie Génétiques, Université Bordeaux 2, Bordeaux, France</affiliation>
</author>
<author xml:id="author-11"><persName><forename type="first">Jean-François</forename>
<surname>Bach</surname>
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</author>
<author xml:id="author-12" corresp="yes"><persName><forename type="first">Henri-Jean</forename>
<surname>Garchon</surname>
</persName>
<email>garchon@necker.fr</email>
<affiliation>INSERM U25, Hôpital Necker, 161 rue de Sèvres, 75743 Paris cedex 15, France</affiliation>
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<abstract><p>Primary open-angle glaucoma (POAG) is a highly prevalent cause of irreversible blindness which associates cupping of the optic disc and alteration of the visual field, elevation of intraocular pressure being a major risk factor. Provided diagnosis is made at an early stage, treatments are available to prevent visual impairment. A locus, GLC1A, has been mapped on chromosome 1q23ȓq25 in several families affected with juvenile-onset POAG (JOAG) and also in some families affected with juvenile and middle-age onset POAG. Recently, three mutations of the TIGR (Trabecular meshwork-Induced Glucocorticoid Response) gene were shown to be responsible for the disease in several American families and in unrelated POAG patients. We now describe five new mutations in eight French families. All mutations known to date appear to concentrate in the evolutionarily conserved C-terminal domain of TIGR which bears homology to frog olfactomedin, an extracellular matrix glycoprotein of the olfactory epithelium, to rat and human neuronal olfactomedin-related proteins and to F11C3.2, a protein from Caenorhabditis elegans. Moreover, this conserved domain of TIGR is encoded by a single exon to which mutation screening could be limited. Surprisingly, the TIGR message, which is abundantly transcribed in the trabecular meshwork and also in the ciliary body and the sclera, is not expressed in the optic nerve whose degeneration is, however, the primary lesion of POAG.</p>
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<title-group><article-title>Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Adam</surname>
<given-names>Marie F.</given-names>
</name>
<xref rid="aff1" ref-type="aff"><sup>1,</sup>
</xref>
<xref rid="fn1" ref-type="fn"><sup>+</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Belmouden</surname>
<given-names>Ahmed</given-names>
</name>
<xref rid="aff1" ref-type="aff"><sup>1,</sup>
</xref>
<xref rid="fn1" ref-type="fn"><sup>+</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Binisti</surname>
<given-names>Philippe</given-names>
</name>
<xref rid="aff1" ref-type="aff"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brézin</surname>
<given-names>Antoine P.</given-names>
</name>
<xref rid="aff1" ref-type="aff"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Valtot</surname>
<given-names>Françoise</given-names>
</name>
<xref rid="aff2" ref-type="aff"><sup>2</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Béchetoille</surname>
<given-names>Alain</given-names>
</name>
<xref rid="aff3" ref-type="aff"><sup>3</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Dascotte</surname>
<given-names>Jean-Claude</given-names>
</name>
<xref rid="aff4" ref-type="aff"><sup>4</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Copin</surname>
<given-names>Bruno</given-names>
</name>
<xref rid="aff1" ref-type="aff"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gomez</surname>
<given-names>Lucienne</given-names>
</name>
<xref rid="aff1" ref-type="aff"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Chaventré</surname>
<given-names>André</given-names>
</name>
<xref rid="aff5" ref-type="aff"><sup>5</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bach</surname>
<given-names>Jean-François</given-names>
</name>
<xref rid="aff1" ref-type="aff"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author" corresp="yes"><name><surname>Garchon</surname>
<given-names>Henri-Jean</given-names>
</name>
<xref rid="aff1" ref-type="aff"><sup>1</sup>
</xref>
<xref rid="COR1" ref-type="corresp">*</xref>
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</aff>
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</label>
<institution>Institut du Glaucome, Hopital Saint-Joseph</institution>
, <addr-line>Paris, France</addr-line>
</aff>
<aff id="aff3"><label><sup>3</sup>
</label>
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<aff id="aff5"><label><sup>5</sup>
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<institution>Laboratoire d'Anthropologie et de Démographie Génétiques, Université Bordeaux 2</institution>
, <addr-line>Bordeaux, France</addr-line>
</aff>
</contrib-group>
<author-notes><corresp id="COR1"><label>*</label>
To whom correspondence should be addressed. Tel: +33 1 44 49 53 67; Fax: +33 1 43 06 23 88; Email: <email>garchon@necker.fr</email>
</corresp>
<fn fn-type="equal" id="fn1"><label><sup>+</sup>
</label>
<p>These authors have contributed equally to this work</p>
</fn>
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<pub-date pub-type="ppub"><month>11</month>
<year>1997</year>
</pub-date>
<volume>6</volume>
<issue>12</issue>
<fpage>2091</fpage>
<lpage>2097</lpage>
<history><date date-type="received"><day>26</day>
<month>6</month>
<year>1997</year>
</date>
<date date-type="accepted"><day>13</day>
<month>8</month>
<year>1997</year>
</date>
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<copyright-statement>© 1997 Oxford University Press</copyright-statement>
<copyright-year>1997</copyright-year>
<abstract><p>Primary open-angle glaucoma (POAG) is a highly prevalent cause of irreversible blindness which associates cupping of the optic disc and alteration of the visual field, elevation of intraocular pressure being a major risk factor. Provided diagnosis is made at an early stage, treatments are available to prevent visual impairment. A locus, GLC1A, has been mapped on chromosome 1q23ȓq25 in several families affected with juvenile-onset POAG (JOAG) and also in some families affected with juvenile and middle-age onset POAG. Recently, three mutations of the TIGR (Trabecular meshwork-Induced Glucocorticoid Response) gene were shown to be responsible for the disease in several American families and in unrelated POAG patients. We now describe five new mutations in eight French families. All mutations known to date appear to concentrate in the evolutionarily conserved C-terminal domain of TIGR which bears homology to frog olfactomedin, an extracellular matrix glycoprotein of the olfactory epithelium, to rat and human neuronal olfactomedin-related proteins and to F11C3.2, a protein from <italic>Caenorhabditis elegans</italic>
. Moreover, this conserved domain of TIGR is encoded by a single exon to which mutation screening could be limited. Surprisingly, the TIGR message, which is abundantly transcribed in the trabecular meshwork and also in the ciliary body and the sclera, is not expressed in the optic nerve whose degeneration is, however, the primary lesion of POAG.</p>
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<name type="personal"><namePart type="given">Marie F.</namePart>
<namePart type="family">Adam</namePart>
<affiliation>INSERM U25, Hôpital Necker, 161 rue de Sèvres, 75743 Paris cedex 15, France</affiliation>
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<affiliation>INSERM U25, Hôpital Necker, 161 rue de Sèvres, 75743 Paris cedex 15, France</affiliation>
<description>+These authors have contributed equally to this work</description>
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<name type="personal"><namePart type="given">Philippe</namePart>
<namePart type="family">Binisti</namePart>
<affiliation>INSERM U25, Hôpital Necker, 161 rue de Sèvres, 75743 Paris cedex 15, France</affiliation>
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<name type="personal"><namePart type="given">Antoine P.</namePart>
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<name type="personal"><namePart type="given">Françoise</namePart>
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<name type="personal"><namePart type="given">Alain</namePart>
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<affiliation>Service d'Ophtalmologie, C.H.U. Angers, Angers, France</affiliation>
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<name type="personal"><namePart type="given">Jean-Claude</namePart>
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<name type="personal"><namePart type="given">Lucienne</namePart>
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<name type="personal"><namePart type="given">André</namePart>
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<abstract>Primary open-angle glaucoma (POAG) is a highly prevalent cause of irreversible blindness which associates cupping of the optic disc and alteration of the visual field, elevation of intraocular pressure being a major risk factor. Provided diagnosis is made at an early stage, treatments are available to prevent visual impairment. A locus, GLC1A, has been mapped on chromosome 1q23ȓq25 in several families affected with juvenile-onset POAG (JOAG) and also in some families affected with juvenile and middle-age onset POAG. Recently, three mutations of the TIGR (Trabecular meshwork-Induced Glucocorticoid Response) gene were shown to be responsible for the disease in several American families and in unrelated POAG patients. We now describe five new mutations in eight French families. All mutations known to date appear to concentrate in the evolutionarily conserved C-terminal domain of TIGR which bears homology to frog olfactomedin, an extracellular matrix glycoprotein of the olfactory epithelium, to rat and human neuronal olfactomedin-related proteins and to F11C3.2, a protein from Caenorhabditis elegans. Moreover, this conserved domain of TIGR is encoded by a single exon to which mutation screening could be limited. Surprisingly, the TIGR message, which is abundantly transcribed in the trabecular meshwork and also in the ciliary body and the sclera, is not expressed in the optic nerve whose degeneration is, however, the primary lesion of POAG.</abstract>
<note type="footnotes">These authors have contributed equally to this work</note>
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