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

Wimmer, R.; Kirsch, Stefan; Rappold, Gudrun; Schempp, Werner

doi:10.1159/000080817

Cited by 8 publications

(8 citation statements)

References 28 publications

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“…The primary outgroup considered was the cat. The complete list of all BACs used in this Wimmer et al (2005) report can be found in the Excel file of Supplementary Tables. The supplementary file also indicates the BACs used to draw the figures and ancestral karyotypes.…”

Section: Methodsmentioning

confidence: 99%

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Primate chromosome evolution: Ancestral karyotypes, marker order and neocentromeres

Stanyon¹,

et al. 2008

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In 1992 the Japanese macaque was the first species for which the homology of the entire karyotype was established by cross-species chromosome painting. Today, there are chromosome painting data on more than 50 species of primates. Although chromosome painting is a rapid and economical method for tracking translocations, it has limited utility for revealing intrachromosomal rearrangements. Fortunately, the use of BAC-FISH in the last few years has allowed remarkable progress in determining marker order along primate chromosomes and there are now marker order data on an array of primate species for a good number of chromosomes. These data reveal inversions, but also show that centromeres of many orthologous chromosomes are embedded in different genomic contexts. Even if the mechanisms of neocentromere formation and progression are just beginning to be understood, it is clear that these phenomena had a significant impact on shaping the primate genome and are fundamental to our understanding of genome evolution. In this report we complete and integrate the dataset of BAC-FISH marker order for human syntenies 1, 2, 4, 5, 8, 12, 17, 18, 19, 21, 22 and the X. These results allowed us to develop hypotheses about the content, marker order and centromere position in ancestral karyotypes at five major branching points on the primate evolutionary tree: ancestral primate, ancestral anthropoid, ancestral platyrrhine, ancestral catarrhine and ancestral hominoid. Current models suggest that between-species structural rearrangements are often intimately related to speciation. Comparative primate cytogenetics has become an important tool for elucidating the phylogeny and the taxonomy of primates. It has become increasingly apparent that molecular cytogenetic data in the future can be fruitfully combined with whole-genome assemblies to advance our understanding of primate genome evolution as well as the mechanisms and processes that have led to the origin of the human genome.

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Section: Methodsmentioning

confidence: 99%

“…The ancestral Y-chromosome was probably considerably smaller in all ancestral karyotypes and has been subject to numerous rearrangements during the evolution of the hominoids (Wimmer et al 2005). More work is needed to determine the evolution of marker order in this chromosome.…”

Section: Sex Chromosomesmentioning

confidence: 99%

Primate chromosome evolution: Ancestral karyotypes, marker order and neocentromeres

Stanyon¹,

et al. 2008

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“…The non-recombining region of the Y progressively extended to include many more genes, to leave one or two small segment(s) that still recombine(s) with the X, called Pseudo-Autosomal Region(s) (PAR), which ensure(s) a proper segregation of the sex chromosomes (Wilson and Makova, 2009). The abundance of inversions on the Y chromosome suggests that they played a role in recombination suppression (Ross et al, 2005;Wimmer et al, 2005). However, other mechanisms may have also been involved, such as genetic modification of recombination rates.…”

Section: Rise and Fall Of Sex Chromosomesmentioning

confidence: 99%

X chromosome inactivation and active X upregulation in therian mammals: facts, questions, and hypotheses

Veitia¹,

Veyrunes²,

Bottani³

et al. 2015

Journal of Molecular Cell Biology

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X chromosome inactivation is a mechanism that modulates the expression of X-linked genes in eutherian females (XX). Ohno proposed that to achieve a proper balance between X-linked and autosomal genes, those on the active X should also undergo a 2-fold upregulation. Although some support for Ohno's hypothesis has been provided through the years, recent genomic studies testing this hypothesis have brought contradictory results and fueled debate. Thus far, there are as many results in favor as against Ohno's hypothesis, depending on the nature of the datasets and the various assumptions and thresholds involved in the analyses. However, they have confirmed the importance of dosage balance between X-linked and autosomal genes involved in stoichiometric relationships. These facts as well as questions and hypotheses are discussed below.

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“…Because therian and avian sex chromosomes arose up to approximately 200 Ma, their Y or W chromosomes retain only a few active genes and consist mainly of repetitive DNA elements, exhibiting only few clues about their autosomal origin or the processes that resulted in their degeneration (Charlesworth B and Charlesworth D 2000). Therefore, it is not certain whether inversions are the cause of recombination suppression or whether inversions occur as a consequence of ceased recombination (Charlesworth et al 2005; Wimmer et al 2005; Wilson and Makova 2009). In the case of the plant Silene latifolia , inversions are not actually associated with the formation of evolutionary strata; the progression of sex chromosome differentiation is gradual rather than a result of large chromosomal rearrangements (Bergero et al 2007, 2008).…”

Section: Introductionmentioning

confidence: 99%

Progressive Recombination Suppression and Differentiation in Recently Evolved Neo-sex Chromosomes

Natri

Shikano

Merilä

2013

Molecular Biology and Evolution

108

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Recombination suppression leads to the structural and functional differentiation of sex chromosomes and is thus a crucial step in the process of sex chromosome evolution. Despite extensive theoretical work, the exact processes and mechanisms of recombination suppression and differentiation are not well understood. In threespine sticklebacks (Gasterosteus aculeatus), a different sex chromosome system has recently evolved by a fusion between the Y chromosome and an autosome in the Japan Sea lineage, which diverged from the ancestor of other lineages approximately 2 Ma. We investigated the evolutionary dynamics and differentiation processes of sex chromosomes based on comparative analyses of these divergent lineages using 63 microsatellite loci. Both chromosome-wide differentiation patterns and phylogenetic inferences with X and Y alleles indicated that the ancestral sex chromosomes were extensively differentiated before the divergence of these lineages. In contrast, genetic differentiation appeared to have proceeded only in a small region of the neo-sex chromosomes. The recombination maps constructed for the Japan Sea lineage indicated that recombination has been suppressed or reduced over a large region spanning the ancestral and neo-sex chromosomes. Chromosomal regions exhibiting genetic differentiation and suppressed or reduced recombination were detected continuously and sequentially in the neo-sex chromosomes, suggesting that differentiation has gradually spread from the fusion point following the extension of recombination suppression. Our study illustrates an ongoing process of sex chromosome differentiation, providing empirical support for the theoretical model postulating that recombination suppression and differentiation proceed in a gradual manner in the very early stage of sex chromosome evolution.

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

Cited by 8 publications

References 28 publications

Primate chromosome evolution: Ancestral karyotypes, marker order and neocentromeres

Primate chromosome evolution: Ancestral karyotypes, marker order and neocentromeres

X chromosome inactivation and active X upregulation in therian mammals: facts, questions, and hypotheses

Progressive Recombination Suppression and Differentiation in Recently Evolved Neo-sex Chromosomes

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