Minor intron splicing revisited: identification of new minor intron-containing genes and tissue-dependent retention and alternative splicing of minor introns-Reference-Cited by-同舟云学术

Minor intron splicing revisited: identification of new minor intron-containing genes and tissue-dependent retention and alternative splicing of minor introns

Published:2019-08-30 Issue:1 Volume:20 Page:
ISSN:1471-2164
Container-title:BMC Genomics
language:en
Short-container-title:BMC Genomics

Author:

Olthof Anouk M.,Hyatt Katery C.,Kanadia Rahul N.^ORCID

Funder

National Institute of Neurological Disorders and Stroke

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Biotechnology

Link

http://link.springer.com/content/pdf/10.1186/s12864-019-6046-x.pdf

Reference51 articles.

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3. Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, et al. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science. 2011;332(6026):240–3.

4. Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, et al. Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman syndrome by disrupting minor intron splicing. Nat Commun. 2015;6:8718.

5. Farach LS, Little ME, Duker AL, Logan CV, Jackson A, Hecht JT, Bober M. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry wood syndrome. Am J Med Genet A. 2018;176(2):465–9.

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