The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser.

ABSTRACT:

Background

Eukaryotic nuclear genomes contain fragments of mitochondrial DNA called NumtS (Nuclear mitochondrial Sequences), whose mode and time of insertion, as well as their functional/structural role within the genome are debated issues. Insertion sites match with chromosomal breaks, revealing that micro-deletions usually occurring at non-homologous end joining loci become reduced in presence of NumtS. Some NumtS are involved in recombination events leading to fragment duplication. Moreover, NumtS are polymorphic, a feature that renders them candidates as population markers. Finally, they are a cause of contamination during human mtDNA sequencing, leading to the generation of false heteroplasmies.

Results

Here we present RHNumtS.2, the most exhaustive human NumtSome catal

SUBMITTER: Simone D 

PROVIDER: S-EPMC3228558 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature