As published in the latest issue of Molecular Biology and Evolution…
The human genome hosts numerous endogenous retroviruses (HERV), of which HERV-K113 and HERV-K115 are the only known full length proviruses that are insertionally polymorphic. Although a handful of previously published papers have documented their prevalence in the global population, to date there has been no report on their prevalence in the US population. Here, we studied the geographic distribution of K113 and K115 among 156 HIV-1+ subjects from the USA, including African Americans, Hispanics, and Caucasians. In the individuals studied, we found higher insertion frequencies of K113 (21%) and K115 (35%) in African Americans compared to Caucasians (K113 9% and K115 6%) within the US. We also report the presence of three single nucleotide polymorphism (SNP) sites in the K113 5′ long terminal repeats (LTR) and four in the K115 5′ LTR that together constituted four haplotypes for K113 and five haplotypes for K115. HERV insertion times can be estimated from the sequence differences between the 5′ and 3′ LTR of each insertion, but this dating method cannot be used with HERV-K115. We developed a method to estimate insertion times by applying coalescent inference to 5′ LTR sequences within our study population, and validated this approach using an independent estimate derived from the genetic distance between K113 5′ and 3′ LTR sequences. Using our method we estimated the insertion dates of K113 and K115 to be a minimum of 800,000 and 1.1 million years ago, respectively. Both these insertion dates pre-date the emergence of anatomically modern Homo sapiens.
PMID: 19666991 [PubMed – as supplied by publisher


