دورية أكاديمية
أعرض في EDS

Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B.

التفاصيل البيبلوغرافية
العنوان: Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B.
المؤلفون: Gilmore WB; Department of Ophthalmology and Stein Eye Institute, Department of Neurobiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Hultgren NW; Department of Ophthalmology and Stein Eye Institute, Department of Neurobiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Chadha A; Department of Ophthalmology and Stein Eye Institute, Department of Neurobiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Barocio SB; Department of Ophthalmology and Stein Eye Institute, Department of Neurobiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Zhang J; Department of Ophthalmology and Stein Eye Institute, Department of Neurobiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Kutsyr O; CellSight Ocular Stem Cell and Regeneration Research Program, Department of Ophthalmology, Sue Anschutz-Rodgers Eye Center, University of Colorado, School of Medicine, Aurora, CO, USA., Flores-Bellver M; CellSight Ocular Stem Cell and Regeneration Research Program, Department of Ophthalmology, Sue Anschutz-Rodgers Eye Center, University of Colorado, School of Medicine, Aurora, CO, USA., Canto-Soler MV; CellSight Ocular Stem Cell and Regeneration Research Program, Department of Ophthalmology, Sue Anschutz-Rodgers Eye Center, University of Colorado, School of Medicine, Aurora, CO, USA., Williams DS; Department of Ophthalmology and Stein Eye Institute, Department of Neurobiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. Electronic address: dswilliams@ucla.edu.
المصدر: Vision research [Vision Res] 2023 Nov; Vol. 212, pp. 108311. Date of Electronic Publication: 2023 Aug 15.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 0417402 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5646 (Electronic) Linking ISSN: 00426989 NLM ISO Abbreviation: Vision Res Subsets: MEDLINE
أسماء مطبوعة: Publication: Kidlington, Oxford : Elsevier Science Ltd.
Original Publication: Oxford [etc.]
مواضيع طبية MeSH: Usher Syndromes*/genetics , Usher Syndromes*/therapy , Usher Syndromes*/metabolism, Humans ; Mice ; Animals ; Swine ; Myosin VIIa/genetics ; Myosin VIIa/metabolism ; Retina/metabolism ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Mutation ; Genetic Therapy
مستخلص: Usher syndrome type 1B (USH1B) is a deaf-blindness disorder, caused by mutations in the MYO7A gene, which encodes the heavy chain of an unconventional actin-based motor protein. Here, we examined the two retinal isoforms of MYO7A, IF1 and IF2. We compared 3D models of the two isoforms and noted that the 38-amino acid region that is present in IF1 but absent from IF2 affects the C lobe of the FERM1 domain and the opening of a cleft in this potentially important protein binding domain. Expression of each of the two isoforms of human MYO7A and pig and mouse Myo7a was detected in the RPE and neural retina. Quantification by qPCR showed that the expression of IF2 was typically ∼ 7-fold greater than that of IF1. We discuss the implications of these findings for any USH1B gene therapy strategy. Given the current incomplete knowledge of the functions of each isoform, both isoforms should be considered for targeting both the RPE and the neural retina in gene augmentation therapies.
Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2023. Published by Elsevier Ltd.)
References: J Neurosci. 2009 Dec 16;29(50):15810-8. (PMID: 20016096)
Audiol Res. 2022 Jan 11;12(1):42-65. (PMID: 35076463)
Nature. 1995 Mar 2;374(6517):60-1. (PMID: 7870171)
Hum Mol Genet. 2005 Dec 15;14(24):3933-43. (PMID: 16301216)
Invest Ophthalmol Vis Sci. 2011 Oct 07;52(11):7924-36. (PMID: 21873662)
J Cell Biol. 2017 Jun 5;216(6):1849-1864. (PMID: 28495838)
Proc Natl Acad Sci U S A. 2018 May 22;115(21):5468-5473. (PMID: 29735674)
J Cell Biol. 2015 Aug 17;210(4):595-611. (PMID: 26261180)
Prog Retin Eye Res. 2010 Sep;29(5):335-75. (PMID: 20362068)
Stem Cell Reports. 2022 Nov 8;17(11):2421-2437. (PMID: 36240775)
Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E517-25. (PMID: 23341635)
Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4600-5. (PMID: 17360570)
Exp Eye Res. 2019 Feb;179:18-24. (PMID: 30336127)
Vision Res. 2023 May;206:108192. (PMID: 36804635)
Stem Cell Reports. 2022 Apr 12;17(4):775-788. (PMID: 35334217)
J Comp Neurol. 1980 Apr 1;190(3):501-8. (PMID: 6771304)
Cell Motil Cytoskeleton. 2000 Jun;46(2):95-107. (PMID: 10891855)
Nat Med. 2020 Mar;26(3):354-359. (PMID: 32094925)
Cell Motil Cytoskeleton. 1997;37(3):240-52. (PMID: 9227854)
Proc Natl Acad Sci U S A. 2015 Dec 1;112(48):14870-5. (PMID: 26578801)
EMBO Rep. 2002 May;3(5):463-70. (PMID: 11964381)
Trends Biochem Sci. 1998 Aug;23(8):281-2. (PMID: 9757824)
Sci Transl Med. 2020 Dec 9;12(573):. (PMID: 33298565)
Mol Biol Cell. 2004 May;15(5):2264-75. (PMID: 14978221)
Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1143-50. (PMID: 19741243)
Proc Natl Acad Sci U S A. 1996 Apr 16;93(8):3232-7. (PMID: 8622919)
Hum Mol Genet. 2005 Feb 1;14(3):347-56. (PMID: 15590703)
J Cell Biol. 1963 Oct;19:79-106. (PMID: 14069804)
Hum Mol Genet. 2011 Jul 1;20(13):2560-70. (PMID: 21493626)
Am J Pathol. 2002 Oct;161(4):1515-24. (PMID: 12368224)
PLoS One. 2011 Apr 08;6(4):e18293. (PMID: 21494607)
J Cell Biol. 1992 Feb;116(3):659-67. (PMID: 1730772)
Cell Motil Cytoskeleton. 2007 Jun;64(6):474-87. (PMID: 17352418)
J Neurosci. 1999 Aug 1;19(15):6267-74. (PMID: 10414956)
PLoS One. 2013 Aug 26;8(8):e72027. (PMID: 23991031)
J Cell Sci. 2004 Dec 15;117(Pt 26):6473-83. (PMID: 15572405)
Front Neurosci. 2019 Nov 22;13:1255. (PMID: 31824252)
Science. 1976 May 21;192(4241):799-801. (PMID: 1265483)
J Chem Neuroanat. 1993 Jul-Aug;6(4):201-13. (PMID: 8104418)
Nat Genet. 1998 Jun;19(2):117-8. (PMID: 9620764)
J Cell Sci. 2002 Jan 15;115(Pt 2):445-50. (PMID: 11839794)
Biochem Soc Trans. 2011 Oct;39(5):1207-10. (PMID: 21936790)
Proc Natl Acad Sci U S A. 1995 Oct 10;92(21):9815-9. (PMID: 7568224)
JAMA Ophthalmol. 2020 Jun 1;138(6):643-651. (PMID: 32352493)
Stem Cells Transl Med. 2013 May;2(5):384-93. (PMID: 23599499)
Front Cell Dev Biol. 2019 Oct 04;7:216. (PMID: 31637240)
Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1130-5. (PMID: 19643958)
EMBO Mol Med. 2014 Feb;6(2):194-211. (PMID: 24150896)
Hum Mol Genet. 1996 Aug;5(8):1171-8. (PMID: 8842737)
Nat Commun. 2014 Jun 10;5:4047. (PMID: 24915161)
Lancet. 2017 Aug 26;390(10097):849-860. (PMID: 28712537)
Stem Cell Res Ther. 2017 Oct 2;8(1):217. (PMID: 28969679)
J Biol Chem. 2002 Nov 8;277(45):43096-103. (PMID: 12221080)
Nat Genet. 1997 Oct;17(2):194-7. (PMID: 9326941)
Gene Ther. 2013 Aug;20(8):824-33. (PMID: 23344065)
Proc Natl Acad Sci U S A. 2003 May 27;100(11):6481-6. (PMID: 12743369)
Am J Ophthalmol. 2019 Aug;204:113-123. (PMID: 30878487)
Mol Ther Methods Clin Dev. 2023 Feb 11;28:396-411. (PMID: 36910588)
J Biol Chem. 2022 Sep;298(9):102286. (PMID: 35868562)
J Cell Biol. 2012 Oct 15;199(2):381-99. (PMID: 23045546)
Vision Res. 2008 Feb;48(3):433-41. (PMID: 17936325)
Invest Ophthalmol Vis Sci. 2001 Mar;42(3):770-8. (PMID: 11222540)
Gene Ther. 2014 Apr;21(4):450-6. (PMID: 24572793)
Hum Mol Genet. 2003 Mar 1;12(5):463-71. (PMID: 12588794)
J Extracell Vesicles. 2021 Nov;10(13):e12165. (PMID: 34750957)
Hum Mol Genet. 2008 Aug 1;17(15):2405-15. (PMID: 18463160)
Gene Ther. 2007 Apr;14(7):584-94. (PMID: 17268537)
Traffic. 2007 May;8(5):486-99. (PMID: 17451552)
Gene Ther. 2017 Feb;24(2):68-71. (PMID: 28054582)
J Comp Neurol. 1988 Jun 8;272(2):161-76. (PMID: 3397406)
معلومات مُعتمدة: R01 EY033035 United States EY NEI NIH HHS; P30 EY000331 United States EY NEI NIH HHS; R01 EY027442 United States EY NEI NIH HHS; F32 EY031575 United States EY NEI NIH HHS; R21 EY031109 United States EY NEI NIH HHS
فهرسة مساهمة: Keywords: Gene therapy; Isoforms; MYO7A; Retina; Usher syndrome
المشرفين على المادة: 0 (Myosin VIIa)
0 (Protein Isoforms)
SCR Disease Name: Usher Syndrome, Type Ib
تواريخ الأحداث: Date Created: 20230816 Date Completed: 20240222 Latest Revision: 20240531
رمز التحديث: 20240531
مُعرف محوري في PubMed: PMC10984346
DOI: 10.1016/j.visres.2023.108311
PMID: 37586294
قاعدة البيانات: MEDLINE
الوصف
تدمد:1878-5646
DOI:10.1016/j.visres.2023.108311