Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.

doi:10.1073/pnas.2102569120

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Article

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.

Proceedings of the National Academy of Sciences of the United States of America - 28 Feb 2023

Khatri Deepak, Putoux Audrey, Cologne Audric, Kaltenbach Sophie, Besson Alicia, Bertiaux Eloïse, Guguin Justine, Fendler Adèle, Dupont Marie A, Benoit-Pilven Clara, Qebibo Leila, Ahmed-Elie Samira, Audebert-Bellanger Séverine, Blanc Pierre, Rambaud Thomas, Castelle Martin, Cornen Gaëlle, Grotto Sarah, Guët Agnès, Guibaud Laurent, Michot Caroline, Odent Sylvie, Ruaud Lyse, Sacaze Elise, Hamel Virginie, Bordonné Rémy, Leutenegger Anne-Louise, Edery Patrick, Burglen Lydie, Attié-Bitach Tania, Mazoyer Sylvie, Delous Marion

Abstract excerpt

In the human genome, about 750 genes contain one intron excised by the minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its noncoding gene, RNU4ATAC, has been found mutated in Taybi-Linder (TALS/microcephalic osteodysplastic primordial dwarfism type 1), Roifman (RFMN), and Lowry-Wood (LWS) syndromes. These rare developmental disorders, whose physiopathological mechanisms...

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PMID: 36802443
DOI: 10.1073/pnas.2102569120
PMCID: PMC9992838

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