Evolution of the Simiiformes and the phylogeny of human chromosomes

Clemente, Imma C.; Ponsà, M.; Garcı́a, M.; Egozcue, J.

doi:10.1007/bf00210798

Cited by 50 publications

(53 citation statements)

References 73 publications

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“…He also hypothesized that in the case of Cercopithecidae with high diploid numbers, where the fission was not centromeric, there had to be a gain in centromeres. In the 1990 review of the evolution of human chromosomes, Clemente et al (1990) hypothesized that differences in centromere position in homologs to chromosomes 4, 6 and 10 did not appear to be the result of inversions but seemed to result from the 'activation/inactivation of centromeres' .…”

Section: The Discovery Of Evolutionary New Centromeresmentioning

confidence: 99%

Centromere repositioning in mammals

et al. 2011

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The evolutionary history of chromosomes can be tracked by the comparative hybridization of large panels of bacterial artificial chromosome clones. This approach has disclosed an unprecedented phenomenon: 'centromere repositioning', that is, the movement of the centromere along the chromosome without marker order variation. The occurrence of evolutionary new centromeres (ENCs) is relatively frequent. In macaque, for instance, 9 out of 20 autosomal centromeres are evolutionarily new; in donkey at least 5 such neocentromeres originated after divergence from the zebra, in less than 1 million years. Recently, orangutan chromosome 9, considered to be heterozygous for a complex rearrangement, was discovered to be an ENC. In humans, in addition to neocentromeres that arise in acentric fragments and result in clinical phenotypes, 8 centromererepositioning events have been reported. These 'real-time' repositioned centromere-seeding events provide clues to ENC birth and progression. In the present paper, we provide a review of the centromere repositioning. We add new data on the population genetics of the ENC of the orangutan, and describe for the first time an ENC on the X chromosome of squirrel monkeys. Next-generation sequencing technologies have started an unprecedented, flourishing period of rapid whole-genome sequencing. In this context, it is worth noting that these technologies, uncoupled from cytogenetics, would miss all the biological data on evolutionary centromere repositioning. Therefore, we can anticipate that classical and molecular cytogenetics will continue to have a crucial role in the identification of centromere movements. Indeed, all ENCs and human neocentromeres were found following classical and molecular cytogenetic investigations. Heredity (2012) 108, 59-67; doi:10.1038/hdy.2011.101; published online 2 November 2011 Keywords: neocentromeres; mammals; centromere movements; evolutionary new centromeres; evolution INTRODUCTIONThe centromere is a complex chromosomal structure responsible for proper chromosome/chromatid segregation at meiosis and mitosis. In almost all eukaryotes, centromeres are found at specific locations along chromosomes and are composed of, occasionally very large, blocks of satellite DNA. Evidence shows that in spite of the very high conservation of centromeric proteins (CENP), the satellite DNA sequences can substantially differ even among closely related species. Recently, two interconnected phenomena, human neocentromeres (HN) and evolutionary new centromeres (ENC, also called repositioned centromeres), have revolutionized our understanding of centromere function and its relationship to the underlining DNA sequences. HNs are centromeres that emerge in ectopic chromosomal regions and are devoid of alphoid sequences, that is, the satellite DNA present at primate centromeres. ENCs are centromeres that move to a new position along the chromosome without any change in marker order (no inversion or other structural rearrangements).

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Section: The Discovery Of Evolutionary New Centromeresmentioning

confidence: 99%

Centromere repositioning in mammals

et al. 2011

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“…5 Lower). ''Latent centromeres'' have been observed in human chromosome 3 pathology (37), and centromere activation and inactivation also has been postulated as a mechanism of chromosome evolution (38,39).…”

Section: High-resolution Mapping Of Chromosome Rearrangements In Oldmentioning

confidence: 99%

Molecular cytogenetic dissection of human chromosomes 3 and 21 evolution

Müller

Stanyon

Finelli

et al. 2000

Proc. Natl. Acad. Sci. U.S.A.

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Chromosome painting in placental mammalians illustrates that genome evolution is marked by chromosomal synteny conservation and that the association of chromosomes 3 and 21 may be the largest widely conserved syntenic block known for mammals. We studied intrachromosomal rearrangements of the syntenic block 3͞21 by using probes derived from chromosomal subregions with a resolution of up to 10 -15 Mbp. We demonstrate that the rearrangements visualized by chromosome painting, mostly translocations, are only a fraction of the actual chromosomal changes that have occurred during evolution. The ancestral segment order for both primates and carnivores is still found in some species in both orders. From the ancestral primate͞carnivore condition an inversion is needed to derive the pig homolog, and a fission of chromosome 21 and a pericentric inversion is needed to derive the Bornean orangutan condition. Two overlapping inversions in the chromosome 3 homolog then would lead to the chromosome form found in humans and African apes. This reconstruction of the origin of human chromosome 3 contrasts with the generally accepted scenario derived from chromosome banding in which it was proposed that only one pericentric inversion was needed. From the ancestral form for Old World primates (now found in the Bornean orangutan) a pericentric inversion and centromere shift leads to the chromosome ancestral for all Old World monkeys. Intrachromosomal rearrangements, as shown here, make up a set of potentially plentiful and informative markers that can be used for phylogenetic reconstruction and a more refined comparative mapping of the genome.

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“…It has been asserted previously that chromosome banding studies alone provide reliable information for tracing the phylogeny of chromosomes from prosimians (or even from outside the primate order) to human (Dutrillaux 1979(Dutrillaux , 1986Clemente et al 1990). Our present data indicate the possible limitations of an approach based exclusively on the matching of band sequence similarities.…”

Section: Comparative Chromosome Banding Analysis Versus Ciss Hybridizmentioning

confidence: 99%

Homologies in human and Macasa fuscata chromosomes revealed by in situ suppression hybridization with human chromosome specific DNA libraries

Wienberg¹,

Stanyon

Jauch³

et al. 1992

Chromosoma

173

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Abstract.We established chromosomal homologies between all chromosomes of the human karyotype and that of an old world monkey (Macaca fuscata) by chromosomal in situ suppression (CISS) hybridization with human chromosome specific DNA libraries. Except for the human chromosome 2 library and limited cross-hybridization of X and Y chromosome libraries all human DNA libraries hybridized to single GTG-banded macaque chromosomes. Only three macaque chromosomes (2, 7, 13) were each hybridized by two separate human libraries (7 and 21, 14 and 15, 20 and 22 respectively). Thus, an unequivocally high degree of synteny between human and macaque chromosomes has been maintained for more than 20 million years. As previously suggested, both Papionini (macaques, baboons, mandrills and cercocebus monkeys, all of which have nearly identical karyotypes) and humans are chromosomally conservative. The results suggest, that CISS hybridization can be expected to become an indispensable tool in comparative chromosome and gene mapping and will help clarify chromosomal phylogenies with speed and accuracy.

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Evolution of the Simiiformes and the phylogeny of human chromosomes

Cited by 50 publications

References 73 publications

Centromere repositioning in mammals

Centromere repositioning in mammals

Molecular cytogenetic dissection of human chromosomes 3 and 21 evolution

Homologies in human and Macasa fuscata chromosomes revealed by in situ suppression hybridization with human chromosome specific DNA libraries

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