The prevalent deep intronic c. 639 + 919 G > A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer
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- 作者：Bruno Palhais1 ; Maja Dembic1 ; Rugivan Sabaratnam ; Kira S. Nielsen ; Thomas Koed Doktor ; Gitte Hoffmann Bruun ; Brage Storstein Andresen ; bragea@bmb.sdu.dk" class="auth_mail" title="E-mail the corresponding author
- 关键词：α-Gal A ; α-galactosidase A enzyme ; ESE ; exonic splicing enhancer ; ESS ; exonic splicing silencer ; FGB ; fibrinogen β gene ; GLA ; α-galactosidase A gene ; hnRNP A1 ; A2/B1 ; F ; and H ; heterogeneous ribonucleoprotein A1 ; A2/B1 ; F ; and H ; NMD ; nonsense-mediated decay ; 3&prime ; and 5&prime ; ss ; 3&prime ; and 5&prime ; splice site ; SRE ; splicing regulatory element ; SSO ; splice-switching oligonucleotide
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：119
- 期：3
- 页码：258-269
- 全文大小：1705 K
文摘
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We investigate the mechanism of GLA pseudoexon activation in Fabry disease.
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The prevalent c.639 + 919 G > A mutation disrupts the binding of hnRNP A1/A2 to an ESS.
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The GLA ESS is a general inhibitory motif able to inhibit also other pseudoexons.
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HnRNP F/H are also involved in the regulation as enhancers of the pseudoexon.
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SSOs might be a relevant therapy option as they restore normal GLA splicing.
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