Detection of ERV-Derived Transcripts in Human Testis Using High Throughput Sequencing: Pipeline for Annotation and Genomic Localization

摘要

The human genome is crowded with transposable elements (TE), of which endogenous retroviruses (ERVs) are not the most studied from the perspective of expression, polymorphisms, and their influence on recent genome evolution. We studied expression data (RNA-Seq) from two human testis providing evidence that diverse families of ERVs are expressing in these tissues and that some ERV-derived transcripts overlap with genes or lncRNA annotations. Our pipeline can be applied to other human and primate samples to extend our knowledge of ERV's biology and their importance for germline genome evolution and disease.