Article
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
RNA (New York, N.Y.) - 1 Jul 2014
Jafarifar Faegheh, Dietrich Rosemary C, Hiznay James M, Padgett Richard A
Abstract excerpt
Biallelic mutations of the human RNU4ATAC gene, which codes for the minor spliceosomal U4atac snRNA, cause the developmental disorder, MOPD I/TALS. To date, nine separate mutations in RNU4ATAC have been identified in MOPD I patients. Evidence suggests that all of these mutations lead to abrogation of U4atac snRNA function and impaired minor intron splicing. However, the molecular basis of these effects is...
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