Françoso Elaine, Gomes Fernando, Arias Maria Cristina
a Departamento de Genética e Biologia Evolutiva , Instituto de Biociências, Universidade de São Paulo , São Paulo , SP, Brazil.
Mitochondrial DNA A DNA Mapp Seq Anal. 2016 Jul;27(4):2401-4. doi: 10.3109/19401736.2015.1028049. Epub 2015 Jun 10.
Nuclear mitochondrial DNA insertions (NUMTs) are mitochondrial DNA sequences that have been transferred into the nucleus and are recognized by the presence of indels and stop codons. Although NUMTs have been identified in a diverse range of species, their discovery was frequently accidental. Here, our initial goal was to develop and standardize a simple method for isolating NUMTs from the nuclear genome of a single bee. Subsequently, we tested our new protocol by determining whether the indels and stop codons of the cytochrome c oxidase subunit I (COI) sequence of Melipona flavolineata are of nuclear origin. The new protocol successfully demonstrated the presence of a COI NUMT. In addition to NUMT investigations, the protocol described here will also be very useful for studying mitochondrial mutations related to diseases and for sequencing complete mitochondrial genomes with high read coverage by Next-Generation technology.
核线粒体DNA插入序列（NUMTs）是已转移到细胞核中的线粒体DNA序列，可通过插入缺失和终止密码子的存在来识别。尽管在多种物种中都已鉴定出NUMTs，但它们的发现往往是偶然的。在这里，我们最初的目标是开发并标准化一种从单只蜜蜂的核基因组中分离NUMTs的简单方法。随后，我们通过确定黄腹无刺蜂细胞色素c氧化酶亚基I（COI）序列的插入缺失和终止密码子是否源自细胞核来测试我们的新方案。新方案成功证明了COI NUMT的存在。除了NUMT研究外，本文所述的方案对于研究与疾病相关的线粒体突变以及通过下一代技术对具有高读取覆盖率的完整线粒体基因组进行测序也将非常有用。
