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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: LINE dancing in the human genome: transposable elements and disease | Genome Medicine Review LINE dancing in the human genome transposable elements and disease Victoria P Belanciot Prescott L Deininger and Astrid M Roy-Engel Addresses Department of Epidemiology School of Public Health and Tropical Medicine Tulane Cancer Center Tulane University SL-49 1430 Tulane Ave New Orleans LA 70112 USA. Department of Structural and Cellular Biology School of Medicine Tulane Cancer Center and Tulane Center for Aging Tulane University SL-49 1430 Tulane Ave New Orleans LA 70112 USA. Correspondence Prescott L Deininger. Email pdeinin@tulane.edu Abstract Transposable elements TEs have been consistently underestimated in their contribution to genetic instability and human disease. TEs can cause human disease by creating insertional mutations in genes and also contributing to genetic instability through non-allelic homologous recombination and introduction of sequences that evolve into various c s-acting signals that alter gene expression. Other outcomes of TE activity such as their potential to cause DNA double-strand breaks or to modulate the epigenetic state of chromosomes are less fully characterized. The currently active human transposable elements are members of the non-LTR retroelement families LINE-1 Alu SINE and SVA. The impact of germline insertional mutagenesis by TEs is well established whereas the rate of post-insertional TE-mediated germline mutations and all forms of somatic mutations remain less well quantified. The number of human diseases discovered to be associated with non-allelic homologous recombination between TEs and particularly between Alu elements is growing at an unprecedented rate. Improvement in the technology for detection of such events as well as the mounting interest in the research and medical communities in resolving the underlying causes of the human diseases with unknown etiology explain this increase. Here we focus on the most recent advances in understanding of the impact of the active human TEs on the stability