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. Author manuscript; available in PMC: 2012 Nov 5.
Published in final edited form as: Cell. 2012 Jan 20;148(1-2):296–308. doi: 10.1016/j.cell.2011.11.057

Figure 2. The NMF291 Mutation is a 5-nucleotide Deletion in a U2 Small Nuclear RNA Gene.

Figure 2

(A) The NMF291 mutation was mapped to Chromosome 11 between D11Mit200 and D11Mit199 (values are in centimorgans (cM) ± SEM).

(B) The NMF291 critical interval contains 8 protein-coding genes (arrows), and 5 U2 snRNA genes (Rnu2–6 – Rnu2–10; bars).

(C) Sequence chromatograms of wild type (C57BL6/J) and mutant (NMF291−/−) Rnu2–8 genomic DNA amplified using unique primers outside of the transcription unit. *, nucleotides deleted in the mutant genome.

(D) Deleted nucleotides are evolutionarily conserved. Conserved nucleotides are boxed in black and indicated in capitals in the consensus sequence. Nucleotides with one or more mismatches or absent across species are indicated in the consensus sequence in lower case or with an asterisk, respectively. The U2 branch site recognition sequence (BSRS), and the nucleotides in helices IA, II, and III, which basepair with U6 snRNA, are indicated. Nucleotides are numbered according to the mouse sequence.

(E) The schematic of RNA:RNA interactions contributing to the first step of splicing. The 5-nucleotide deletion in Rnu2–8 is highlighted in red. See also Figure S2.