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.
Novel genome analysis technologies enable genomic studies of transposable elements (TEs) in different organisms. Population studies of human genome show thousands of individual TE insertions. These insertions are important source of natural human genetic variation. Researchers are beginning to develop population genomic data sets for evaluating the phenotypic impact of human TE polymorphisms. Because of the evidences of horizontal transfer of retrotransposons between different species genome, in this study we aimed to detect barley retrotransposons (Nikita and BAGY2) in the human genome. Inter retrotransposon amplified polymorphism polymerase chain reaction (IRAP PCR) were used to measure the distribution of Nikita and BAGY2 retroelements in the human genome. Analyses reveals that Nikita and BAGY2 are present in the human genome and show different distribution in the genome. The polymorphism ratios of retroelements suggest that Nikita and BAGY2 have been active retrotransposons in the human genome.
and neurological diseases. There are many studies investigating the association of HERVs with diseases. In this review, we give a short summary from a few of these studies.
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