Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations | Zendy

Xun Sun | Zendy; James H. Park | Zendy; Jessica Gumerson | Zendy; Zhijian Wu | Zendy; Anand Swaroop | Zendy; Haohua Qian | Zendy; Antonina RollMecak | Zendy; Tiansen Li | Zendy

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Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations

Author(s) -

Xun Sun,

James H. Park,

Jessica Gumerson,

Zhijian Wu,

Anand Swaroop,

Haohua Qian,

Antonina RollMecak,

Tiansen Li

Publication year - 2016

Publication title -

proceedings of the national academy of sciences

Language(s) - English

Resource type - Journals

eISSN - 1091-6490

pISSN - 0027-8424

DOI - 10.1073/pnas.1523201113

Subject(s) - retinitis pigmentosa , retinal degeneration , biology , genetics , cilium , phenotype , genetic screen , regulator , gene , mutation , microbiology and biotechnology

Significance Mutations affecting two unrelated genes,retinitis pigmentosa GTPase regulator (RPGR ) andtubulin tyrosine ligase like 5 (TTLL5 ), lead to photoreceptor degeneration and blindness in humans. We find that RPGR function in photoreceptor cilia requires glutamylation by TTLL5. Glutamylation is a poorly understood posttranslational modification that consists of the addition of glutamates to target proteins. Moreover, we find that mice lacking RPGR or TTLL5 exhibit similar phenotypes characterized by photoreceptor degeneration and opsin mislocalization. Our work identifies a novel essential regulator of RPGR and demonstrates that disease-causing mutations in these two genes share a common pathogenic pathway in humans.

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