Molecular Characterization of the Pericentric Inversion That Causes Differences Between Chimpanzee Chromosome 19 and Human Chromosome 17

Kehrer‐Sawatzki, Hildegard; Schreiner, Bettina; Tänzer, Simone; Platzer, Matthias; Müller, Stefan; Hameister, Horst

doi:10.1086/341963

Cited by 71 publications

(57 citation statements)

References 43 publications

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“…This kind of ''position effect'' has been documented in the inversion In(3L)Payne in Drosophila (Wesley and Eanes 1994). On the other hand, the results from searches for gene disruption caused by the inversions that distinguish humans and chimps have to date been negative (Kehrer-Sawatzki et al 2002, 2005. As most mutations seem to show intermediate dominance, fitness effects caused by the breakpoint itself will typically favor fixation or loss of the new inversion, but of course it is possible that the fitness effects will be overdominant and lead to a stable polymorphism.…”

Section: Discussionmentioning

confidence: 96%

Chromosome Inversions, Local Adaptation and Speciation

2006

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We study the evolution of inversions that capture locally adapted alleles when two populations are exchanging migrants or hybridizing. By suppressing recombination between the loci, a new inversion can spread. Neither drift nor coadaptation between the alleles (epistasis) is needed, so this local adaptation mechanism may apply to a broader range of genetic and demographic situations than alternative hypotheses that have been widely discussed. The mechanism can explain many features observed in inversion systems. It will drive an inversion to high frequency if there is no countervailing force, which could explain fixed differences observed between populations and species. An inversion can be stabilized at an intermediate frequency if it also happens to capture one or more deleterious recessive mutations, which could explain polymorphisms that are common in some species. This polymorphism can cycle in frequency with the changing selective advantage of the locally favored alleles. The mechanism can establish underdominant inversions that decrease heterokaryotype fitness by several percent if the cause of fitness loss is structural, while if the cause is genic there is no limit to the strength of underdominance that can result. The mechanism is expected to cause loci responsible for adaptive species-specific differences to map to inversions, as seen in recent QTL studies. We discuss data that support the hypothesis, review other mechanisms for inversion evolution, and suggest possible tests.

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Section: Discussionmentioning

confidence: 96%

Chromosome Inversions, Local Adaptation and Speciation

2006

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“…However, there are fewer examples of direct involvement of TEs in mammalian genome remodeling. Inversions in primates are known to be induced by recombination of some transposable elements (Schwartz et al 1998;Kehrer-Sawatzki et al 2002). Gerbils of the genus Taterillus have undergone rapid and extensive chromosome repatterning with concomitant amplification of LINE-1 elements.…”

Section: Discussionmentioning

confidence: 99%

Genomic Instability Within Centromeres of Interspecific Marsupial Hybrids

et al. 2007

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Several lines of evidence suggest that, within a lineage, particular genomic regions are subject to instability that can lead to specific types of chromosome rearrangements important in species incompatibility. Within family Macropodidae (kangaroos, wallabies, bettongs, and potoroos), which exhibit recent and extensive karyotypic evolution, rearrangements involve chiefly the centromere. We propose that centromeres are the primary target for destabilization in cases of genomic instability, such as interspecific hybridization, and participate in the formation of novel chromosome rearrangements. Here we use standard cytological staining, cross-species chromosome painting, DNA probe analyses, and scanning electron microscopy to examine four interspecific macropodid hybrids (Macropus rufogriseus 3 Macropus agilis). The parental complements share the same centric fusions relative to the presumed macropodid ancestral karyotype, but can be differentiated on the basis of heterochromatic content, M. rufogriseus having larger centromeres with large C-banding positive regions. All hybrids exhibited the same pattern of chromosomal instability and remodeling specifically within the centromeres derived from the maternal (M. rufogriseus) complement. This instability included amplification of a satellite repeat and a transposable element, changes in chromatin structure, and de novo whole-arm rearrangements. We discuss possible reasons and mechanisms for the centromeric instability and remodeling observed in all four macropodid hybrids.

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“…4C; Supplemental Table 4). Indeed, seven of these 15 large-scale events (human chromosomes 4, 5, 9, 12, 15, 17, and 18) do correspond precisely to chimp-human pericentric inversion breakpoints initially described by Yunis and coworkers (Yunis et al 1980;Yunis and Prakash 1982) and subsequently refined at the molecular level (Table 1; Kehrer-Sawatzki et al 2002, 2005aLocke et al 2003b;Dennehey et al 2004;Goidts et al 2004;Nickerson et al 2005) including analysis of the chimpanzee genome assembly (The Chimpanzee Sequencing and Analysis Consortium 2005). Breakpoints for one additional known inversion on chromosome 1 were not identified in corresponding positions, but our set of 15 large-scale inversions does identify a centromere-spanning inversion on chromosome 1 that may represent the cytogenetic inversions on these chromosomes (Supplemental Table 1).…”

Section: Inversionsmentioning

confidence: 91%

A genome-wide survey of structural variation between human and chimpanzee

et al. 2005

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Structural changes (deletions, insertions, and inversions) between human and chimpanzee genomes have likely had a significant impact on lineage-specific evolution because of their potential for dramatic and irreversible mutation. The low-quality nature of the current chimpanzee genome assembly precludes the reliable identification of many of these differences. To circumvent this, we applied a method to optimally map chimpanzee fosmid paired-end sequences against the human genome to systematically identify sites of structural variation Ն12 kb between the two species. Our analysis yielded a total of 651 putative sites of chimpanzee deletion (n = 293), insertions (n = 184), and rearrangements consistent with local inversions between the two genomes (n = 174). We validated a subset (19/23) of insertion and deletions using PCR and Southern blot assays, confirming the accuracy of our method. The events are distributed throughout the genome on all chromosomes but are highly correlated with sites of segmental duplication in human and chimpanzee. These structural variants encompass at least 24 Mb of DNA and overlap with >245 genes. Seventeen of these genes contain exons missing in the chimpanzee genomic sequence and also show a significant reduction in gene expression in chimpanzee. Compared with the pioneering work of Yunis, Prakash, Dutrillaux, and Lejeune, this analysis expands the number of potential rearrangements between chimpanzees and humans 50-fold. Furthermore, this work prioritizes regions for further finishing in the chimpanzee genome and provides a resource for interrogating functional differences between humans and chimpanzees.

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Molecular Characterization of the Pericentric Inversion That Causes Differences Between Chimpanzee Chromosome 19 and Human Chromosome 17

Cited by 71 publications

References 43 publications

Chromosome Inversions, Local Adaptation and Speciation

Chromosome Inversions, Local Adaptation and Speciation

Genomic Instability Within Centromeres of Interspecific Marsupial Hybrids

A genome-wide survey of structural variation between human and chimpanzee

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