25 research outputs found

    Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network

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    Using the Cap Analysis of Gene Expression (CAGE) technology, the FANTOM5 consortium provided one of the most comprehensive maps of transcription start sites (TSSs) in several species. Strikingly, ~72% of them could not be assigned to a specific gene and initiate at unconventional regions, outside promoters or enhancers. Here, we probe these unassigned TSSs and show that, in all species studied, a significant fraction of CAGE peaks initiate at microsatellites, also called short tandem repeats (STRs). To confirm this transcription, we develop Cap Trap RNA-seq, a technology which combines cap trapping and long read MinION sequencing. We train sequence-based deep learning models able to predict CAGE signal at STRs with high accuracy. These models unveil the importance of STR surrounding sequences not only to distinguish STR classes, but also to predict the level of transcription initiation. Importantly, genetic variants linked to human diseases are preferentially found at STRs with high transcription initiation level, supporting the biological and clinical relevance of transcription initiation at STRs. Together, our results extend the repertoire of non-coding transcription associated with DNA tandem repeats and complexify STR polymorphism

    Anterior Capsular Repair in Total Hip Arthroplasty Performed for Late-Presenting Displaced Femoral Neck Fractures

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    Dislocation after total hip arthroplasty performed for femoral neck fractures occurs frequently due to the significantly higher range of movement of the postoperative hip joint. Proper wound closure can prevent the loss of structural support provided by the capsule and myofascial structures, and is essential for postoperative hip stability. On 32 consecutive patients ( four men, 28 women; mean age 64 years, range 48-83 years) with unilateral late-presenting displaced femoral neck fractures, a careful anterior capsule repair technique during total hip arthroplasty was performed by a single surgeon between 1997 and 2000. At one-year follow-up, no dislocation had occurred in any patient. Intraoperative protection and careful anatomic reattachment of the hip joint capsule may increase the stability of the hip joint after total hip arthroplasty and lead to a lower incidence of dislocation
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