Abstract
Retrotransposon Activates Ectopic Ptf1 Expression: A Short Tail
Highlights
Ptf1a encodes a cell type–restricted basic helix-loop-helix transcription factor required for development of the pancreas and cerebellum [8,9,10]
All three groups conclude that ectopic expression of Ptf1 is the causal event in Sd mice
Finding no mutations after Sanger sequencing all the exons of annotated coding genes in the interval, they developed a custom oligonucleotide array to capture all non-repetitive sequences from the interval for massively parallel sequencing, using paired-end reads and requiring both ends to map correctly in the interval to ensure high-quality assembly (Figure 1D). This allowed the group to analyze more than half of the nucleotides in the critical region at a read depth of 4406, but still provided no plausible candidate mutations for Sd
Summary
In this issue of PLOS Genetics, three laboratories independently identify the Sd mutation as an 8.5 kb ETn retrotransposon insertion 12.3 kb upstream from the Ptf1a gene [5,6,7]. The complete, high-confidence sequencing of the critical region provides a rigorous demonstration that the ETn insertion must be the Sd mutation.
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