title: Human-specific HERV-K insertion causes genomic variations in the human genome.
abstract: Human endogenous retroviruses (HERV) sequences account for about 8% of the human genome. Through comparative genomics and literature mining, we identified a total of 29 human-specific HERV-K insertions. We characterized them focusing on their structure and flanking sequence. The results showed that four of the human-specific HERV-K insertions deleted human genomic sequences via non-classical insertion mechanisms. Interestingly, two of the human-specific HERV-K insertion loci contained two HERV-K internals and three LTR elements, a pattern which could be explained by LTR-LTR ectopic recombination or template switching. In addition, we conducted a polymorphic test and observed that twelve out of the 29 elements are polymorphic in the human population. In conclusion, human-specific HERV-K elements have inserted into human genome since the divergence of human and chimpanzee, causing human genomic changes. Thus, we believe that human-specific HERV-K activity has contributed to the genomic divergence between humans and chimpanzees, as well as within the human population.
authors.affiliation: Department of Nanobiomedical Science and WCU Research Center, Dankook University, Cheonan, Republic of Korea.
authors.forename: Wonseok
authors.initials: W
authors.lastname: Shin
authors.forename: Jungnam
authors.initials: J
authors.lastname: Lee
authors.forename: Seung-Yeol
authors.initials: SY
authors.lastname: Son
authors.forename: Kung
authors.initials: K
authors.lastname: Ahn
authors.forename: Heui-Soo
authors.initials: HS
authors.lastname: Kim
authors.forename: Kyudong
authors.initials: K
authors.lastname: Han
mesh_terms: D001483:Base Sequence; D004171:Diploidy; D020077:Endogenous Retroviruses / Q000235:genetics*; D014644:Genetic Variation; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional / Q000235:genetics*; D010802:Phylogeny; D011110:Polymorphism, Genetic; D013045:Species Specificity