Nuclear mitochondrial sequences in great ape telomere-to-telomere genomes.
NUMTs in great ape genomes reveal a dynamic evolutionary process, with a 76-kilobase NUMT in chimpanzee being the largest observed among them.
- Why it matters: Understanding NUMTs is crucial because they interfere with mitochondrial DNA analysis and influence genome evolution, yet their distribution and impact across great apes remain unclear.
- What they did: Using high-quality Telomere-to-Telomere genomes from six great ape species, the study identified shared and species-specific NUMTs, analyzed their genomic locations, and validated a large heterozygous NUMT in chimpanzee.
- The result: Findings show NUMTs are mostly located in nonfunctional regions, with some expanding on the Y chromosome, and are generally fixed or at high frequency within species, highlighting their role in shaping ape genomes.