info:eu-repo/semantics/article
Factors affecting the relative abundance of nuclear copies of mitochondrial DNA (Numts) in Hominoids
Registro en:
Soto-Calderón ID, Lee EJ, Jensen-Seaman MI, Anthony NM. Factors affecting the relative abundance of nuclear copies of mitochondrial DNA (numts) in hominoids. J Mol Evol. 2012 Oct;75(3-4):102-11. doi: 10.1007/s00239-012-9519-y.
0022-2844
10.1007/s00239-012-9519-y
1432-1432
Autor
Soto Calderón, Iván Darío
Lee, Eun Joo
Jensen Seaman, Michael
Anthony, Nicola
Institución
Resumen
ABSTRACT: Although nuclear copies of mitochondrial DNA (numts) can originate from any portion of the
mitochondrial genome, evidence from humans suggests that more variable parts of the
mitochondrial genome, such as the mitochondrial control region (MCR), are under-represented in
the nucleus. This apparent deficit might arise from the erosion of sequence identity in numts
originating from rapidly evolving mitochondrial sequences. However, the extent to which
mitochondrial sequence properties impacts the number of numts detected in genomic surveys has
not been evaluated. In order to address this question, we: (1) conducted exhaustive BLAST
searches of MCR numts in three hominoid genomes; (2) assessed numt prevalence across the four
MCR sub-domains (HV1, CCD, HV2, and MCRF); (3) estimated their insertion rates in great apes
(Hominoidea); and (4) examined the relationship between mitochondrial DNA variability and
numt prevalence in sequences originating from MCR and coding regions of the mitochondrial
genome. Results indicate a marked deficit of numts from HV2 and MCRF MCR sub-domains in
all three species. These MCR sub-domains exhibited the highest proportion of variable sites and
the lowest number of detected numts per mitochondrial site. Variation in MCR insertion rate
between lineages was also observed with a pronounced burst in recent integrations within
chimpanzees and orangutans. A deficit of numts from HV2/MCRF was observed regardless of age,
whereas HV1 is under-represented only in older numts (>25 million years). Finally, more variable
mitochondrial genes also exhibit a lower identity with nuclear copies and because of this, appear
to be under-represented in human numt databases. COL0006723