Article

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects

2021-12-16

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 non-coding gene, RNU4ATAC , has been found mutated in Taybi-Linder (MOPD1/TALS), Roifman (RFMN) and Lowry-Wood syndromes (LWS). These rare developmental disorders, whose physiopathological mechanisms remain unsolved, associate ante- and post-natal growt...

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Literature Corpus work: 208cdb28-b539-5527-806a-9db4a23e4d1f
DOI: 10.1101/2021.12.12.21266616

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