PMC:4502366 / 23289-25288 JSONTXT

{"target":"http://pubannotation.org/docs/sourcedb/PMC/sourceid/4502366","sourcedb":"PMC","sourceid":"4502366","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4502366","text":"Further study is clearly needed on the processes influencing mitochondrial variation and evolution in this lineage, including on the mechanisms underlying gene conversion and recombination, on mutation rates and the frequency of gene conversion events, and on the strength of selection on different types of variants. For instance, further haplotype phasing within individuals could shed light on the tempo of gene conversion; the presence of all possible haplotypes within each individual would suggest rapid and dynamic recombination of mitochondrial monomer units within individuals. Preliminarily, there appear to be just two distinct haplotypes across two closely linked heteroplasmic sites near one end of the T. rathkei mitochondrial DNA sequence (Figure S2), but haplotype phasing at the other sites was impossible with our short-read data, even when taking paired read information into account. Similarly, in C. convexus, just two haplotypes are found in equal numbers across the heteroplasmies at sites 11755 and 12160 (Figure S4). Studying such sites across multiple individuals in a family would answer important questions about mechanisms of transmission. For example, while the tRNAAla/tRNAVal heteroplasmy was stably transmitted in one study in A. vulgare (Doublet et al. 2008), repeating such studies in families with multiple heteroplasmic sites, especially combined with haplotype phase information, would confirm pure maternal cytoplasmic inheritance and stable transmission of multiple heteroplasmic sites. Finally, examining many individuals across multiple polymorphic populations, combined with modeling studies, would shed light on the microevolutionary dynamics of these sites (e.g., frequency of gene conversion and strength of selection). Plummeting sequencing costs, combined with increasing throughput and read lengths, should make sequencing whole mitochondrial genomes in many individuals feasible, providing rich opportunities to answer these questions in the future.","tracks":[{"project":"2_test","denotations":[{"id":"25911226-18698356-43388801","span":{"begin":1287,"end":1291},"obj":"18698356"}],"attributes":[{"subj":"25911226-18698356-43388801","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#ecd793","default":true}]}]}}