A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.
Journal
Human genetics
ISSN: 1432-1203
Titre abrégé: Hum Genet
Pays: Germany
ID NLM: 7613873
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
received:
28
10
2022
accepted:
19
12
2022
pubmed:
26
1
2023
medline:
3
3
2023
entrez:
25
1
2023
Statut:
ppublish
Résumé
Bi-allelic mutations in the gene coding for human trans-membrane anterior-posterior transformation protein 1 (TAPT1) result in a broad phenotypic spectrum, ranging from syndromic disease with severe skeletal and congenital abnormalities to isolated early-onset cataract. We present here the first patient with a frameshift mutation in the TAPT1 gene, resulting in both bilateral early-onset cataract and skeletal abnormalities, in addition to several dysmorphic features, in this way further expanding the phenotypic spectrum associated with TAPT1 mutations. A tapt1a/tapt1b double knock-out (KO) zebrafish model generated by CRISPR/Cas9 gene editing revealed an early larval phenotype with eye malformations, loss of vision, increased photokinetics and hyperpigmentation, without visible skeletal involvement. Ultrastructural analysis of the eyes showed a smaller condensed lens, loss of integrity of the lens capsule with formation of a secondary lens and hyperplasia of the cells in the ganglion and inner plexiform layers of the retina. Transcriptomic analysis pointed to an impaired lens development with aberrant expression of many of the crystallin and other lens-specific genes. Furthermore, the phototransduction and visual perception pathways were found to be significantly disturbed. Differences in light perception are likely the cause of the increased dark photokinetics and generalized hyperpigmentation observed in this zebrafish model. In conclusion, this study validates TAPT1 as a new gene for early-onset cataract and sheds light on its ultrastructural and molecular characteristics.
Identifiants
pubmed: 36697720
doi: 10.1007/s00439-022-02518-w
pii: 10.1007/s00439-022-02518-w
doi:
Substances chimiques
Membrane Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
457-476Subventions
Organisme : Bijzonder Onderzoeksfonds UGent
ID : BOF.GOA.2021.0004
Organisme : Universiteit Gent
ID : BOF24Y2019003301
Organisme : FWO
ID : 12Q5920N
Organisme : FWO
ID : 1842323N
Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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