Figure 5.

A 14-member family of sequences with shared brain-specific mutations. A, Positions of the brain-specific mutations in the largest sequence family from patient 10086. Mutations in the sequences that were not found exclusively in brain are not shown. The nos. at the top of the figure indicate the nucleotide position according to the H77 genotype 1a sequence. The dominant sequence in the brain from patient 10086 is considered to be wild type (WT) and is presented at the top for comparison. The nos. on the left identify the variants, and the letters on the right identify the tissues from which the variant was isolated (C, cerebellum; F, frontal cortex; M, medulla). Repeated letters indicate that the variant was found in multiple reverse-transcription polymerase chain reactions for the same tissue. Starred mutations are not brain specific (as defined in the text) but were observed only in brain-derived clones. Variant 1 shares the U930C mutation with variants 2, 3, 4, and 10; variant 10 has an additional brain-specific mutation, U1128C, which is shared by variants 11-14. The A1062G mutation is shared by variants 1, 2, 4, 5, and 6, and the C1152U mutation is shared by 1, 4, 5, 8, and 9. B, Phylogenetic analysis of all brain-specific variants from patient 10086. Variants are labeled to indicate their position in the tree.