The qMini assay identifies an overlooked class of splice variants.

Guan, Bin; Bender, Chelsea; Pantrangi, Madhulatha; Moore, Nia; Reeves, Melissa; Naik, Amelia; Li, Huirong; Goetz, Kerry; Blain, Delphine; Agather, Aime; Cukras, Catherine; Zein, Wadih M; Huryn, Laryssa A; Brooks, Brian P; Hufnagel, Robert B

Guan, Bin; Bender, Chelsea; Pantrangi, Madhulatha; Moore, Nia; Reeves, Melissa; Naik, Amelia; Li, Huirong; Goetz, Kerry; Blain, Delphine; Agather, Aime; Cukras, Catherine; Zein, Wadih M; Huryn, Laryssa A; Brooks, Brian P; Hufnagel, Robert B.

Afiliación

Guan B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Bender C; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Pantrangi M; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY.
Moore N; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Reeves M; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Naik A; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Li H; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Goetz K; Office of Data Science and Health Informatics, National Eye Institute, National Institutes of Health, Bethesda, MD.
Blain D; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Agather A; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Cukras C; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Huryn LA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.

medRxiv ; 2023 Nov 03.

Article en En | MEDLINE | ID: mdl-38076877

ABSTRACT

ABSTRACT

Splice variants are known to cause diseases by utilizing alternative splice sites, potentially resulting in protein truncation or mRNA degradation by nonsense-mediated decay. Splice variants are verified when altered mature mRNA sequences are identified in RNA analyses or minigene assays. Using a quantitative minigene assay, qMini, we uncovered a previously overlooked class of disease-associated splice variants that did not alter mRNA sequence but decreased mature mRNA level, suggesting a potentially new pathogenic mechanism.

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Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: MedRxiv Año: 2023 Tipo del documento: Article País de afiliación: Moldova