Mammalian sex-chromosome evolution: a conserved homoeologous segment on the X and Y chromosomes in primates

Schempp, Werner; Weber, Bernhard H. F.; Müller, Gaby

doi:10.1159/000132760

Cited by 21 publications

(15 citation statements)

References 7 publications

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“…Primate species have, with few exceptions (see Ventura et al 2001), X chromosomes that are apparently identical in banding and centromere position to the human X. Therefore, the finding by Schempp et al (1989) that the X chromosome of Saimiri sciureus (SSC) had undergone unclear intrachromosomal rearrangements, which had apparently moved the pseudoautosomal region to distal part of the long arm was of particular interest. Later Dumas et al (2007) hypothesized that the X-chromosome in SSC either differed by a pericentric inversion or centromere shift.…”

Section: Encs In the X-chromosome Of New World Squirrel Monkeysmentioning

confidence: 99%

“…A review of the literature shows that, when the X chromosome is illustrated with sufficient banding clarity, the repositioned centromere is evident in all squirrel monkeys regardless of the taxonomic designation (Jones and Ma, 1975;Lau and Arrighi, 1976;Cambefort and Moro, 1978;Garcia et al, 1979Garcia et al, , 1995Dutrillaux and Couturier, 1981;Schempp et al, 1989;Scammell et al, 2001;Stanyon et al, 2008). The seemingly anomalous q terminal position of the par of the two Saimiri in Schempp et al (1989) is now easily explained by the presence of the neoX.…”

Section: Dating the Origin And Phylogenetic Distribution Of The X Chrmentioning

confidence: 99%

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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: Encs In the X-chromosome Of New World Squirrel Monkeysmentioning

confidence: 99%

Section: Dating the Origin And Phylogenetic Distribution Of The X Chrmentioning

confidence: 99%

Centromere repositioning in mammals

et al. 2011

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“…Eutherian X and Y chromosomes recombine only at the so-called pseudoautosomal region (PAR), which is located at the tip of one arm of X and Y chromosome, respectively (Gläser et al, , 1999Toder et al, 1997). While the X chromosome seems to be highly conserved throughout the eutherian orders, the Y chromosomes show a broad spectrum of species-specific morphological divergence (Weber et al, 1986;Schempp et al, 1989;Müller, 1993). Indeed, the Y chromosomes of various higher primate species exhibit a wide range of structural rearrangements including enormous differences in the degree of amplification of gene family members within their non-recombining regions (NRYs) (Schempp et al, 1995;Gläser et al, 1998;Wimmer et al, 2002a).…”

confidence: 99%

Evolutionary breakpoint analysis on Y chromosomes of higher primates provides insight into human Y evolution

Wimmer

Kirsch²,

Rappold³

et al. 2004

Cytogenet Genome Res

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Comparative FISH mapping of PAC clones covering almost 3 Mb of the human AZFa region in Yq11.21 to metaphases of human and great apes unravels breakpoints that were involved in species-specific Y chromosome evolution. An astonishing clustering of evolutionary breakpoints was detected in the very proximal region on the long arm of the human Y chromosome in Yq11.21. These breakpoints were involved in deletions, one specific for the human and another for the orang-utan Y chromosome, in a duplicative translocation/transposition specific for bonobo and chimpanzee Y chromosomes and in a pericentric inversion specific for the gorilla Y chromosome. In addition, our comparative results allow the deduction of a model for the human Y chromosome evolution.

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“…2). Judged by the presence of many regions with different replication timing (Camargo and Cervenka 1982;Schempp et al 1989), we would expect that chromatin packing of the human Y chromosome should be quite heterogeneous, and this could influence the rate of occurrence of DNA strand slippage or of mismatch repair (or other genome turnover mechanisms) responsible for microsatellite evolution. We could not find any apparent association between distinct mutation rates and localization of the microsatellite loci.…”

Section: Chromosomal Locationmentioning

confidence: 99%

Divergent Human Y-Chromosome Microsatellite Evolution Rates

et al. 1999

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Abstract:In this work, we analyze several characteristics influencing the low variability of the microsatellite DYS19 in the major founder Amerindian Y chromosome lineage containing the point mutation DYS199-T. Variation of DYS19 was compared with that of five other Y-linked tetranucleotide repeat loci (DYS389A, DYS389B, DYS390, DYS391, and DYS393) in the DYS199-T lineage. All the other microsatellites showed significantly higher levels of variability than DYS19 as measured by gene diversity and repeat number variance. Moreover, we had previously shown that DYS19 had high diversity in Brazilians and in several other populations worldwide. Thus, the slow DYS19 evolution in the DYS199-T lineage seems to be both locus and allele specific. To understand the slow DYS19 evolutionary rate, the microsatellite loci were compared according to their mapping on the Y chromosome and also on the basis of structural aspects such as the base composition of the repeat motif and flanking regions and the degree of perfection and size (repeat number) of the variable blocks. The only observed difference that might be related to the low DYS19 variability is its small average number of repeats, a value expected to be closer to the founder DYS19 allele in the DYS199-T lineage. These data were also compared to other derived Y lineages. The Tat-C lineage displayed a lower DYS19 variability correlated to a small average repeat number, while in the DYS234-G lineage, a high DYS19 variability was found associated to a larger average repeat number. This approach reveals that evolution of Y microsatellites in lineages defined by slowly evolving markers, such as point mutations, can be greatly influenced by the size (number of repeats of the variable block) of the founder allele in each microsatellite locus. Thus lineage-dating methods using microsatellite variation should be practiced with great care.

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Mammalian sex-chromosome evolution: a conserved homoeologous segment on the X and Y chromosomes in primates

Cited by 21 publications

References 7 publications

Centromere repositioning in mammals

Centromere repositioning in mammals

Evolutionary breakpoint analysis on Y chromosomes of higher primates provides insight into human Y evolution

Divergent Human Y-Chromosome Microsatellite Evolution Rates

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