Abstract
The history of each human chromosome can be studied through comparative cytogenetic approaches in mammals which permit the identification of human chromosomal homologies and rearrangements between species. Comparative banding, chromosome painting, Bacterial Artificial Chromosome (BAC) mapping and genome data permit researchers to formulate hypotheses about ancestral chromosome forms. Human chromosome 13 has been previously shown to be conserved as a single syntenic element in the Ancestral Primate Karyotype; in this context, in order to study and verify the conservation of primate chromosomes homologous to human chromosome 13, we mapped a selected set of BAC probes in three platyrrhine species, characterised by a high level of rearrangements, using fluorescence in situ hybridisation (FISH). Our mapping data on Saguinus oedipus, Callithrix argentata and Alouatta belzebul provide insight into synteny of human chromosome 13 evolution in a comparative perspective among primate species, showing rearrangements across taxa. Furthermore, in a wider perspective, we have revised previous cytogenomic literature data on chromosome 13 evolution in eutherian mammals, showing a complex origin of the eutherian mammal ancestral karyotype which has still not been completely clarified. Moreover, we analysed biomedical aspects (the OMIM and Mitelman databases) regarding human chromosome 13, showing that this autosome is characterised by a certain level of plasticity that has been implicated in many human cancers and diseases.
Highlights
Comparative chromosome banding, followed by the advent of mapping by fluorescence in situ hybridisation (FISH), whole Chromosome Painting (CP) and Bacterial Artificial Chromosome (BAC)probes, have been used to detect chromosomal homologies, rearrangements and breakpoints among many mammalian species, defining major pathways of chromosome evolution in the class [1,2,3,4,5,6]
Human DNA sequences cloned inside vectors such as BACs are used as a mapping probe hybridised onto metaphases of target species, at a finer level, permitting the detection of fine chromosomal dynamics; these latter chromosome changes consist of small intra and inter-chromosomal rearrangements such as inversions, Evolutionary New Centromeres (ENC; new centromeres arise without the occurrence of inversions, maintaining the marker order) and duplications [3] which are not detectable by painting [5,6]
Our analysis showed marker order conservation of the BAC probes considered in all species compared, even where synteny 13 had been split during evolution; but we found an exception for probe A7 that had been mapped on Saguinus oedipus (SOE), where it showed three mapping signals on chromosome 1 (Figures 2 and 3c), in agreement with previous BAC mapping in Callithrix jacchus chromosome 1p [27]
Summary
Comparative chromosome banding, followed by the advent of mapping by fluorescence in situ hybridisation (FISH), whole Chromosome Painting (CP) and Bacterial Artificial Chromosome (BAC)probes, have been used to detect chromosomal homologies, rearrangements and breakpoints among many mammalian species, defining major pathways of chromosome evolution in the class [1,2,3,4,5,6]. Genes 2020, 11, 383; doi:10.3390/genes11040383 www.mdpi.com/journal/genes (RP) [8] on human metaphases, or on other animal genomes in an approach known as Zoo-FISH (Z-F) [9] The analysis of these data regarding a single chromosome permits researchers to track each inter-chromosomal change involving the human chromosome under study. In yet another approach, human DNA sequences cloned inside vectors such as BACs are used as a mapping probe hybridised onto metaphases of target species, at a finer level, permitting the detection of fine chromosomal dynamics; these latter chromosome changes consist of small intra and inter-chromosomal rearrangements such as inversions, Evolutionary New Centromeres (ENC; new centromeres arise without the occurrence of inversions, maintaining the marker order) and duplications [3] which are not detectable by painting [5,6]
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