Variants in ASB10 are associated with open-angle glaucoma
The molecular events responsible for obstruction of aqueous humor outflow and the loss of retinal ganglion cells in glaucoma, one of the main causes of blindness worldwide, remain poorly understood. We identified a synonymous variant, c.765C>T (Thr255Thr), in ankyrin repeats and suppressor of cyt...
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| Veröffentlicht in: | Human molecular genetics 2012-03, Vol.21 (6), p.1336-1349 |
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| creator | PASUTTO, Francesca KELLER, Kate E EDMUNDS, Beth KRAMER, Patricia L GRAMER, Eugen REIS, Andre ACOTT, Ted S WIRTZ, Mary K WEISSCHUH, Nicole STICHT, Heinrich SAMPLES, John R YANG, Yong-Feng ZENKEL, Matthias SCHLÖTZER-SCHREHARDT, Ursula MARDIN, Christian Y FREZZOTTI, Paolo |
| description | The molecular events responsible for obstruction of aqueous humor outflow and the loss of retinal ganglion cells in glaucoma, one of the main causes of blindness worldwide, remain poorly understood. We identified a synonymous variant, c.765C>T (Thr255Thr), in ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) in a large family with primary open angle glaucoma (POAG) mapping to the GLC1F locus. This variant affects an exon splice enhancer site and alters mRNA splicing in lymphoblasts of affected family members. Systematic sequence analysis in two POAG patient groups (195 US and 977 German) and their respective controls (85 and 376) lead to the identification of 26 amino acid changes in 70 patients (70 of 1172; 6.0%) compared with 9 in 13 controls (13 of 461; 2.8%; P = 0.008). Molecular modeling suggests that these missense variants change ASB10 net charge or destabilize ankyrin repeats. ASB10 mRNA and protein were found to be strongly expressed in trabecular meshwork, retinal ganglion cells and ciliary body. Silencing of ASB10 transcripts in perfused anterior segment organ culture reduced outflow facility by ∼50% compared with control-infected anterior segments (P = 0.02). In conclusion, genetic and molecular analyses provide evidence for ASB10 as a glaucoma-causing gene. |
| doi_str_mv | 10.1093/hmg/ddr572 |
| format | Article |
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We identified a synonymous variant, c.765C>T (Thr255Thr), in ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) in a large family with primary open angle glaucoma (POAG) mapping to the GLC1F locus. This variant affects an exon splice enhancer site and alters mRNA splicing in lymphoblasts of affected family members. Systematic sequence analysis in two POAG patient groups (195 US and 977 German) and their respective controls (85 and 376) lead to the identification of 26 amino acid changes in 70 patients (70 of 1172; 6.0%) compared with 9 in 13 controls (13 of 461; 2.8%; P = 0.008). Molecular modeling suggests that these missense variants change ASB10 net charge or destabilize ankyrin repeats. ASB10 mRNA and protein were found to be strongly expressed in trabecular meshwork, retinal ganglion cells and ciliary body. Silencing of ASB10 transcripts in perfused anterior segment organ culture reduced outflow facility by ∼50% compared with control-infected anterior segments (P = 0.02). In conclusion, genetic and molecular analyses provide evidence for ASB10 as a glaucoma-causing gene.</description><identifier>ISSN: 0964-6906</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/ddr572</identifier><identifier>PMID: 22156576</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alternative Splicing ; Amino Acid Sequence ; Ankyrin Repeat ; Base Sequence ; Biological and medical sciences ; Case-Control Studies ; Cells, Cultured ; Ciliary Body - cytology ; Ciliary Body - metabolism ; Female ; Fundamental and applied biological sciences. Psychology ; Genetics of eukaryotes. Biological and molecular evolution ; Glaucoma and intraocular pressure ; Glaucoma, Open-Angle - genetics ; Glaucoma, Open-Angle - pathology ; Humans ; Male ; Medical sciences ; Middle Aged ; Molecular and cellular biology ; Molecular Sequence Data ; Mutation, Missense - genetics ; Ophthalmology ; Organ Culture Techniques ; Pedigree ; Prognosis ; Real-Time Polymerase Chain Reaction ; Retinal Ganglion Cells - cytology ; Retinal Ganglion Cells - metabolism ; RNA, Messenger - genetics ; Suppressor of Cytokine Signaling Proteins - chemistry ; Suppressor of Cytokine Signaling Proteins - genetics ; Suppressor of Cytokine Signaling Proteins - metabolism ; Trabecular Meshwork - metabolism ; Trabecular Meshwork - pathology ; Young Adult</subject><ispartof>Human molecular genetics, 2012-03, Vol.21 (6), p.1336-1349</ispartof><rights>2015 INIST-CNRS</rights><rights>The Author 2011. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2011</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c439t-40149791d81116ef9d8f8a4eca040fbef6397aa58a1e933352f0b0e08bb0d1c63</citedby><cites>FETCH-LOGICAL-c439t-40149791d81116ef9d8f8a4eca040fbef6397aa58a1e933352f0b0e08bb0d1c63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,315,781,785,886,27929,27930</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25626181$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22156576$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>PASUTTO, Francesca</creatorcontrib><creatorcontrib>KELLER, Kate E</creatorcontrib><creatorcontrib>EDMUNDS, Beth</creatorcontrib><creatorcontrib>KRAMER, Patricia L</creatorcontrib><creatorcontrib>GRAMER, Eugen</creatorcontrib><creatorcontrib>REIS, Andre</creatorcontrib><creatorcontrib>ACOTT, Ted S</creatorcontrib><creatorcontrib>WIRTZ, Mary K</creatorcontrib><creatorcontrib>WEISSCHUH, Nicole</creatorcontrib><creatorcontrib>STICHT, Heinrich</creatorcontrib><creatorcontrib>SAMPLES, John R</creatorcontrib><creatorcontrib>YANG, Yong-Feng</creatorcontrib><creatorcontrib>ZENKEL, Matthias</creatorcontrib><creatorcontrib>SCHLÖTZER-SCHREHARDT, Ursula</creatorcontrib><creatorcontrib>MARDIN, Christian Y</creatorcontrib><creatorcontrib>FREZZOTTI, Paolo</creatorcontrib><title>Variants in ASB10 are associated with open-angle glaucoma</title><title>Human molecular genetics</title><addtitle>Hum Mol Genet</addtitle><description>The molecular events responsible for obstruction of aqueous humor outflow and the loss of retinal ganglion cells in glaucoma, one of the main causes of blindness worldwide, remain poorly understood. We identified a synonymous variant, c.765C>T (Thr255Thr), in ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) in a large family with primary open angle glaucoma (POAG) mapping to the GLC1F locus. This variant affects an exon splice enhancer site and alters mRNA splicing in lymphoblasts of affected family members. Systematic sequence analysis in two POAG patient groups (195 US and 977 German) and their respective controls (85 and 376) lead to the identification of 26 amino acid changes in 70 patients (70 of 1172; 6.0%) compared with 9 in 13 controls (13 of 461; 2.8%; P = 0.008). Molecular modeling suggests that these missense variants change ASB10 net charge or destabilize ankyrin repeats. ASB10 mRNA and protein were found to be strongly expressed in trabecular meshwork, retinal ganglion cells and ciliary body. Silencing of ASB10 transcripts in perfused anterior segment organ culture reduced outflow facility by ∼50% compared with control-infected anterior segments (P = 0.02). In conclusion, genetic and molecular analyses provide evidence for ASB10 as a glaucoma-causing gene.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Alternative Splicing</subject><subject>Amino Acid Sequence</subject><subject>Ankyrin Repeat</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>Cells, Cultured</subject><subject>Ciliary Body - cytology</subject><subject>Ciliary Body - metabolism</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Glaucoma and intraocular pressure</subject><subject>Glaucoma, Open-Angle - genetics</subject><subject>Glaucoma, Open-Angle - pathology</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Molecular and cellular biology</subject><subject>Molecular Sequence Data</subject><subject>Mutation, Missense - genetics</subject><subject>Ophthalmology</subject><subject>Organ Culture Techniques</subject><subject>Pedigree</subject><subject>Prognosis</subject><subject>Real-Time Polymerase Chain Reaction</subject><subject>Retinal Ganglion Cells - cytology</subject><subject>Retinal Ganglion Cells - metabolism</subject><subject>RNA, Messenger - genetics</subject><subject>Suppressor of Cytokine Signaling Proteins - chemistry</subject><subject>Suppressor of Cytokine Signaling Proteins - genetics</subject><subject>Suppressor of Cytokine Signaling Proteins - metabolism</subject><subject>Trabecular Meshwork - metabolism</subject><subject>Trabecular Meshwork - pathology</subject><subject>Young Adult</subject><issn>0964-6906</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0clqHDEQBmARHOKJk0sewPTFBAJtV0lqLReDbRLbYMghy1VUq9UzMr2MpR6bvH06zHg75VSH-vip4mfsE8IxghUnq3550jSp0vwNW6BUUHIwYo8twCpZKgtqn73P-RYAlRT6HdvnHCtVabVg9jelSMOUizgUZz_OEQpKoaCcRx9pCk3xEKdVMa7DUNKw7EKx7Gjjx54-sLctdTl83M0D9uvb158XV-XN98vri7Ob0kthp1ICSqstNgYRVWhtY1pDMngCCW0dWiWsJqoMYbBCiIq3UEMAU9fQoFfigJ1uc9ebug-ND8OUqHPrFHtKf9xI0b3eDHHlluO9E9xI5HwO-LwLSOPdJuTJ9TH70HU0hHGTna2kNlwZ_L_kotIStJ7ll630acw5hfbpHgT3rxQ3l-K2pcz48OUHT_SxhRkc7QBlT12baPAxP7tKcYXzfX8Bgb6U5g</recordid><startdate>20120315</startdate><enddate>20120315</enddate><creator>PASUTTO, Francesca</creator><creator>KELLER, Kate E</creator><creator>EDMUNDS, Beth</creator><creator>KRAMER, Patricia L</creator><creator>GRAMER, Eugen</creator><creator>REIS, Andre</creator><creator>ACOTT, Ted S</creator><creator>WIRTZ, Mary K</creator><creator>WEISSCHUH, Nicole</creator><creator>STICHT, Heinrich</creator><creator>SAMPLES, John R</creator><creator>YANG, Yong-Feng</creator><creator>ZENKEL, Matthias</creator><creator>SCHLÖTZER-SCHREHARDT, Ursula</creator><creator>MARDIN, Christian Y</creator><creator>FREZZOTTI, Paolo</creator><general>Oxford University Press</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>5PM</scope></search><sort><creationdate>20120315</creationdate><title>Variants in ASB10 are associated with open-angle glaucoma</title><author>PASUTTO, Francesca ; KELLER, Kate E ; EDMUNDS, Beth ; KRAMER, Patricia L ; GRAMER, Eugen ; REIS, Andre ; ACOTT, Ted S ; WIRTZ, Mary K ; WEISSCHUH, Nicole ; STICHT, Heinrich ; SAMPLES, John R ; YANG, Yong-Feng ; ZENKEL, Matthias ; SCHLÖTZER-SCHREHARDT, Ursula ; MARDIN, Christian Y ; FREZZOTTI, Paolo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c439t-40149791d81116ef9d8f8a4eca040fbef6397aa58a1e933352f0b0e08bb0d1c63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Alternative Splicing</topic><topic>Amino Acid Sequence</topic><topic>Ankyrin Repeat</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>Cells, Cultured</topic><topic>Ciliary Body - cytology</topic><topic>Ciliary Body - metabolism</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Glaucoma and intraocular pressure</topic><topic>Glaucoma, Open-Angle - genetics</topic><topic>Glaucoma, Open-Angle - pathology</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Molecular and cellular biology</topic><topic>Molecular Sequence Data</topic><topic>Mutation, Missense - genetics</topic><topic>Ophthalmology</topic><topic>Organ Culture Techniques</topic><topic>Pedigree</topic><topic>Prognosis</topic><topic>Real-Time Polymerase Chain Reaction</topic><topic>Retinal Ganglion Cells - cytology</topic><topic>Retinal Ganglion Cells - metabolism</topic><topic>RNA, Messenger - genetics</topic><topic>Suppressor of Cytokine Signaling Proteins - chemistry</topic><topic>Suppressor of Cytokine Signaling Proteins - genetics</topic><topic>Suppressor of Cytokine Signaling Proteins - metabolism</topic><topic>Trabecular Meshwork - metabolism</topic><topic>Trabecular Meshwork - pathology</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>PASUTTO, Francesca</creatorcontrib><creatorcontrib>KELLER, Kate E</creatorcontrib><creatorcontrib>EDMUNDS, Beth</creatorcontrib><creatorcontrib>KRAMER, Patricia L</creatorcontrib><creatorcontrib>GRAMER, Eugen</creatorcontrib><creatorcontrib>REIS, Andre</creatorcontrib><creatorcontrib>ACOTT, Ted S</creatorcontrib><creatorcontrib>WIRTZ, Mary K</creatorcontrib><creatorcontrib>WEISSCHUH, Nicole</creatorcontrib><creatorcontrib>STICHT, Heinrich</creatorcontrib><creatorcontrib>SAMPLES, John R</creatorcontrib><creatorcontrib>YANG, Yong-Feng</creatorcontrib><creatorcontrib>ZENKEL, Matthias</creatorcontrib><creatorcontrib>SCHLÖTZER-SCHREHARDT, Ursula</creatorcontrib><creatorcontrib>MARDIN, Christian Y</creatorcontrib><creatorcontrib>FREZZOTTI, Paolo</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>PASUTTO, Francesca</au><au>KELLER, Kate E</au><au>EDMUNDS, Beth</au><au>KRAMER, Patricia L</au><au>GRAMER, Eugen</au><au>REIS, Andre</au><au>ACOTT, Ted S</au><au>WIRTZ, Mary K</au><au>WEISSCHUH, Nicole</au><au>STICHT, Heinrich</au><au>SAMPLES, John R</au><au>YANG, Yong-Feng</au><au>ZENKEL, Matthias</au><au>SCHLÖTZER-SCHREHARDT, Ursula</au><au>MARDIN, Christian Y</au><au>FREZZOTTI, Paolo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Variants in ASB10 are associated with open-angle glaucoma</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum Mol Genet</addtitle><date>2012-03-15</date><risdate>2012</risdate><volume>21</volume><issue>6</issue><spage>1336</spage><epage>1349</epage><pages>1336-1349</pages><issn>0964-6906</issn><eissn>1460-2083</eissn><abstract>The molecular events responsible for obstruction of aqueous humor outflow and the loss of retinal ganglion cells in glaucoma, one of the main causes of blindness worldwide, remain poorly understood. We identified a synonymous variant, c.765C>T (Thr255Thr), in ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) in a large family with primary open angle glaucoma (POAG) mapping to the GLC1F locus. This variant affects an exon splice enhancer site and alters mRNA splicing in lymphoblasts of affected family members. Systematic sequence analysis in two POAG patient groups (195 US and 977 German) and their respective controls (85 and 376) lead to the identification of 26 amino acid changes in 70 patients (70 of 1172; 6.0%) compared with 9 in 13 controls (13 of 461; 2.8%; P = 0.008). Molecular modeling suggests that these missense variants change ASB10 net charge or destabilize ankyrin repeats. ASB10 mRNA and protein were found to be strongly expressed in trabecular meshwork, retinal ganglion cells and ciliary body. Silencing of ASB10 transcripts in perfused anterior segment organ culture reduced outflow facility by ∼50% compared with control-infected anterior segments (P = 0.02). In conclusion, genetic and molecular analyses provide evidence for ASB10 as a glaucoma-causing gene.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>22156576</pmid><doi>10.1093/hmg/ddr572</doi><tpages>14</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Aged Aged, 80 and over Alternative Splicing Amino Acid Sequence Ankyrin Repeat Base Sequence Biological and medical sciences Case-Control Studies Cells, Cultured Ciliary Body - cytology Ciliary Body - metabolism Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Glaucoma and intraocular pressure Glaucoma, Open-Angle - genetics Glaucoma, Open-Angle - pathology Humans Male Medical sciences Middle Aged Molecular and cellular biology Molecular Sequence Data Mutation, Missense - genetics Ophthalmology Organ Culture Techniques Pedigree Prognosis Real-Time Polymerase Chain Reaction Retinal Ganglion Cells - cytology Retinal Ganglion Cells - metabolism RNA, Messenger - genetics Suppressor of Cytokine Signaling Proteins - chemistry Suppressor of Cytokine Signaling Proteins - genetics Suppressor of Cytokine Signaling Proteins - metabolism Trabecular Meshwork - metabolism Trabecular Meshwork - pathology Young Adult |
| title | Variants in ASB10 are associated with open-angle glaucoma |
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