Role of Repetitive Sequences in Mouse and Human Variation and Disease
The chromosomes in human cells are not naked but exist packaged in protein coats called "chromatin." Domains of at least four alternative types of chromatin alternate along human chromosomes, but it is generally not known why one type prevails in any given region. Alu are short DNA sequences present in 1.2 million copies in the human genome and LINE-1 are somewhat longer DNA sequences present in ~900,000 copies in the human genome. The vicinities of most human genes are either highly enriched for Alu transposons or occupied by moderate numbers of both Alu and LINE-1 transposons and it was not known why. Results of this research are being prepared for publication. In follow-up studies, the researchers plan to see how the aforementioned effects of LINE-1 cause "epimutations," which are mutation-like effects caused by LINE-1 causing causing genes to be too highly or too lowly expressed via unwanted chromartin type. Human disease is dominated by the complex disorders and for most complex disorders, epimutations are thought to play a big role. The researchers are focusing on Schizophrenia, autism, and Type 1 Diabetes using data obtained online and from collaborators.
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