Human-specific HERV-K LTRs as an approach to the role of mobile genetic elements in neuropsychiatric disease
Long terminal repeats (LTRs) of the human endogenous retrovirus K family (HERV-K) have been found to be coexpressed with sequences of genes closely located nearby. It has been suggested that the HERV-K LTR elements have contributed to structural change in the genome in human evolution and to genetic...
| Main Authors: | , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2001
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| Summary: | Long terminal repeats (LTRs) of the human endogenous retrovirus K family (HERV-K) have been found to be coexpressed with sequences of genes closely located nearby. It has been suggested that the HERV-K LTR elements have contributed to structural change in the genome in human evolution and to genetic variation connected to various diseases. We examined the HERV-K LTR elements in patients with schizophrenia. Using genomic DNA from the patient's blood samples, we performed PCR amplification and identified twenty HERV-K LTR elements. Those LTR elements showed a high degree of sequence similarity (92.6-99.7%) with human-specific LTR elements. A phylogenetic tree obtained by the neighbor-joining method revealed that HERV-K LTR elements could be classified into two main groups through evolutionary divergence. Fourteen HERV-K LTR elements belonging to the group II from patients with schizophrenia were closely related to human-specific HERV-K LTR elements, suggesting that these HERV-K LTRs, recently proliferated in human genome after divergence of the human and the chimpanzee, deserve further investigation. The data indicate that various copy numbers of the HERV-K LTR elements that cluster with those of the human specificity are detectable in blood samples. Further investigation in patients and controls is required to ascertain whether any of these elements are related to the disease process of schizophrenia. |
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