Detection of HERV‑K6 and HERV‑K11 transpositions in the human genome

Cakmak Guner,Buket; Karlik,Elif; Marakli,Sevgi; Gozukirmizi,Nermin

doi:10.3892/br.2018.1096

Detection of HERV‑K6 and HERV‑K11 transpositions in the human genome

Authors:
- Buket Cakmak Guner
- Elif Karlik
- Sevgi Marakli
- Nermin Gozukirmizi
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Affiliations: Department of Molecular Biology and Genetics, Faculty of Science, Istanbul University, 34134 Istanbul, Turkey, Department of Biotechnology, Institution of Science, Istanbul University, 34134 Istanbul, Turkey
Published online on: May 14, 2018 https://doi.org/10.3892/br.2018.1096
Pages: 53-59

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Abstract

Mobile genetic elements classed as transposons comprise an estimated 45% of the human genome, and 8% of these elements are human endogenous retroviruses (HERVs). Endogenous retroviruses are retrotransposons, containing 5' and 3' long terminal repeat sequences and encoding envelope, group‑specific antigen and DNA polymerase proteins. The aim of the present study was to analyse genome integration polymorphisms of HERV type K member 6 (HERV‑K6) and HERV‑K11 by using the retrotransposon based molecular marker technique, inter‑retrotransposon amplified polymorphism (IRAP). For this purpose, blood samples of 18 healthy individuals within the age range of 10‑79 years (10 females and 8 males) were collected, genomic DNAs were isolated and IRAP‑polymerase chain reaction (PCR) was performed. IRAP‑PCR analyses demonstrated that there were 0‑70% polymorphism rates for HERV‑K6, and 0‑38% polymorphism rates for HERV‑K11 among all the samples. Furthermore, the polymorphism rates were 0‑70% among females and 11‑60% among males for HERV‑K6, and 0‑38% among females and 0‑25% among males for HERV‑K11. Age‑associated polymorphism was also investigated, but no age‑associated polymorphism was observed among the samples. Therefore, HERV‑K6 and HERV‑K11 polymorphisms may arise on an individual‑specific basis. Various previous studies have investigated the associations between the expression of HERVs and cancer or other major diseases. However, few reports have analysed HERV‑K movements among individuals. This is the first report to investigate HERV‑K6 and HERV‑K11 retrotransposon polymorphisms between the genders and different age groups.

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