PRJNA287678
Homo sapiens SCA10 expansion-raw sequence reads
Rationale: Spinocerebellar ataxia type 10 (SCA10) is caused by the expansion of a non-coding repetitive segment of DNA. The number of ATTCT intronic repeats is normally polymorphic but in SCA10 patients can expand up to 4500 repeats (22.5 kb). Though SCA10 causes ataxia in patients, a subset of patients develop additional symptoms such as epileptic seizures. Past studies have shown that epileptic seizures in SCA10 patients correlate with the presence of interruption motifs at the 5' end of the expansion. Past technical limitations of sequencing have restricted the study of genotype (repeat interruptions in the expansion)-phenotype studies with the SCA10 expansion.Goal: Here, we use Single Molecule Real-Time (SMRT) sequencing to sequence PCR-amplified, cloned SCA10 expansion to elucidate their repeat motif structure.Conclusions: The three expansions that are examined in this study all have interruption motifs of varying sequencing and composition throughout the expansion allele. We expect these results to alter our understanding of desease symptoms and the underlying pathology of SCA10.