Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.

Autor: Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Claire Benetollo, Clément Saccaro, Justine Guguin, Gabriel Sala, Audric Cologne, Marion Delous, Gaetan Lesca, Richard A Padgett, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer

Publikováno v: PLoS ONE, Vol 15, Iss 7, p e0235655 (2020)

Biallelic variants in RNU4ATAC, a non-coding gene transcribed into the minor spliceosome component U4atac snRNA, are responsible for three rare recessive developmental diseases, namely Taybi-Linder/MOPD1, Roifman and Lowry-Wood syndromes. Next-genera

Externí odkaz: https://doaj.org/article/c65c22bed0df489ab421b2e558d11852

Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex

Autor: Fatimat Almentina Ramos Shidi, Audric Cologne, Marion Delous, Alicia Besson, Audrey Putoux, Anne-Louise Leutenegger, Vincent Lacroix, Patrick Edery, Sylvie Mazoyer, Rémy Bordonné

Publikováno v: Nucleic Acids Research
Nucleic Acids Research, 2022, ⟨10.1093/nar/gkac1182⟩

Various genetic diseases associated with microcephaly and developmental defects are due to pathogenic variants in the U4atac small nuclear RNA (snRNA), a component of the minor spliceosome essential for the removal of U12-type introns from eukaryotic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48d5972b52619923454106adb5b79360
https://inria.hal.science/hal-03913654/document

Transcriptome profiling of mouse samples using nanopore sequencing of cDNA and RNA molecules

Autor: Corinne Cruaud, Jean-Marc Aury, Vincent Lacroix, Thomas Derrien, Camille Sessegolo, Corinne Da Silva, Marion Dubarry, Audric Cologne

Publikováno v: Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Scientific Reports
Scientific Reports, Nature Publishing Group, 2019, 9 (1), pp.14908. ⟨10.1038/s41598-019-51470-9⟩
Scientific Reports, 2019, 9 (1), pp.14908. ⟨10.1038/s41598-019-51470-9⟩

Our vision of DNA transcription and splicing has changed dramatically with the introduction of short-read sequencing. These high-throughput sequencing technologies promised to unravel the complexity of any transcriptome. Generally gene expression lev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e26427d330f5cf2645271f5e11fb9747
http://link.springer.com/article/10.1038/s41598-019-51470-9

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

Autor: Amandine Campan-Fournier, Sylvie Mazoyer, Aimee D C Paulussen, Alicia Besson, Audric Cologne, Vincent Lacroix, Annick Toutain, Anne-Louise Leutenegger, Audrey Putoux, Patrick Edery, Clara Benoit-Pilven, Chaim M. Roifman, Christine E. M. de Die-Smulders, Lucile Pinson, Michael B. Bober

Publikováno v: RNA
RNA, Cold Spring Harbor Laboratory Press, 2019, pp.1-21. ⟨10.1261/rna.071423.119⟩
RNA, 2019, pp.1-21. ⟨10.1261/rna.071423.119⟩
Rna-A Publication of the Rna Society, 25(9), 1130-1149. Cold Spring Harbor Laboratory Press

Minor intron splicing plays a central role in human embryonic development and survival. Indeed, biallelic mutations in RNU4ATAC, transcribed into the minor spliceosomal U4atac snRNA, are responsible for three rare autosomal recessive multimalformatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::295cf4813d8c203cc5cd9305e6501c60
https://hal.inria.fr/hal-02305628