6533b85bfe1ef96bd12bad42

RESEARCH PRODUCT

Eight million years of maintained heterozygosity in chromosome homologs of cercopithecine monkeys

Giorgia ChiatanteOronzo CapozziRoscoe StanyonDoron TolomeoMariano RocchiNicoletta ArchidiaconoLuca SineoTakafumi Ishida

subject

Chromosomes Artificial BacterialHeterozygoteOld WorldCentromereSettore BIO/08 - AntropologiaGenomeChromosome PaintingEvolution MolecularLoss of heterozygosity03 medical and health sciences0302 clinical medicineChromosome DuplicationCentromereGeneticsHomologous chromosomeAnimalsHumansIn Situ Hybridization FluorescenceGenetics (clinical)030304 developmental biology0303 health sciencesChromosomes Heterozygosity Primates Evolution Heterozygous advantageCercopitheciniPhylogenetic treebiologyChromosomeHaplorhinibiology.organism_classificationBiological EvolutionChromosomes MammalianEvolutionary biologyKaryotyping030217 neurology & neurosurgery

description

In the Cercopithecini ancestor two chromosomes, homologous to human chromosomes 20 and 21, fused to form the Cercopithecini specific 20/21 association. In some individuals from the genus Cercopithecus, this association was shown to be polymorphic for the position of the centromere, suggesting centromere repositioning events. We set out to test this hypothesis by defining the evolutionary history of the 20/21 association in four Cercopithecini species from three different genera. The marker order of the various 20/21 associations was established using molecular cytogenetic techniques, including an array of more than 100 BACs. We discovered that five different forms of the 20/21 association were present in the four studied Cercopithecini species. Remarkably, in the two Cercopithecus species, we found individuals in which one homolog conserved the ancestral condition, but the other homolog was highly rearranged. The phylogenetic analysis showed that the heterozygosity in these two species originated about 8 million years ago and was maintained for this entire arc of time, surviving multiple speciation events. Our report is a remarkable extension of Dobzhansky's pioneering observation in Drosophila concerning the maintenance of chromosomal heterozygosity due to selective advantage. Dobzhansky's hypothesis recently received strong support in a series of detailed reports on the fruit fly genome. Our findings are first extension to primates, indeed to Old World monkeys phylogenetically close to humans of an analogous situation. Our results have important implications for hypotheses on how chromosome rearrangements, selection, and speciation are related.

10.1007/s00412-020-00731-yhttp://hdl.handle.net/10447/392435