DNA Sequences in Centromere Formation and Function

Dumont, Marie; Fachinetti, Daniele

doi:10.1007/978-3-319-58592-5_13

Cited by 26 publications

(17 citation statements)

References 189 publications

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“…In order to identify features of centromeric activity, an in silico search for the CENP-B boxlike motifs (a conserved short sequence acting as the binding site for CENP-B, which directly interacts with CENP-A to maintain kinetochore nucleation) (Dumont and Fachinetti 2017; Schalch and Steiner 2017) was also performed in SAT1.723 sequence monomers from BTA and the seven Tragelaphini species. In fact, this analysis revealed the presence of a CENP-B boxlike motif in the monomers of this satDNA family in all species examined (fig.…”

Section: Resultsmentioning

confidence: 99%

Conservation, Divergence, and Functions of Centromeric Satellite DNA Families in the Bovidae

Escudeiro

Adega

Robinson

et al. 2019

Genome Biology and Evolution

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Repetitive satellite DNA (satDNA) sequences are abundant in eukaryote genomes, with a structural and functional role in centromeric function. We analyzed the nucleotide sequence and chromosomal location of the five known cattle ( Bos taurus ) satDNA families in seven species from the tribe Tragelaphini (Bovinae subfamily). One of the families ( SAT1.723 ) was present at the chromosomes’ centromeres of the Tragelaphini species, as well in two more distantly related bovid species, Ovis aries and Capra hircus . Analysis of the interaction of SAT1.723 with centromeric proteins revealed that this satDNA sequence is involved in the centromeric activity in all the species analyzed and that it is preserved for at least 15–20 Myr across Bovidae species. The satDNA sequence similarity among the analyzed species reflected different stages of homogeneity/heterogeneity, revealing the evolutionary history of each satDNA family. The SAT1.723 monomer-flanking regions showed the presence of transposable elements, explaining the extensive shuffling of this satDNA between different genomic regions.

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Section: Resultsmentioning

confidence: 99%

Conservation, Divergence, and Functions of Centromeric Satellite DNA Families in the Bovidae

Escudeiro

Adega

Robinson

et al. 2019

Genome Biology and Evolution

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“…Differences in centromere features such as sequence variation (Alexandrov et al, 2001;Aldrup-MacDonald et al, 2016;Contreras-Galindo et al, 2017) and centromere length (Rudd & Willard, 2004;Contreras-Galindo et al, 2017;Dumont & Fachinetti, 2017) could modulate the abundance of centromeric and kinetochore components, as shown for CENP-A and Ndc80 (a subunit of the kinetochore; Irvine et al, 2004;Sullivan et al, 2011;Contreras-Galindo et al, 2017;Drpic et al, 2017), and, thus, have a direct impact on chromosome segregation fidelity. A direct correlation between centromere size and bias in chromosome segregation was demonstrated in mouse asymmetric female meiosis, a phenomenon defined as centromere drive (Henikoff & Malik, 2002).…”

Section: Introductionmentioning

confidence: 99%

Human chromosome‐specific aneuploidy is influenced by DNA ‐dependent centromeric features

et al. 2019

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Intrinsic genomic features of individual chromosomes can contribute to chromosome-specific aneuploidy. Centromeres are key elements for the maintenance of chromosome segregation fidelity via a specialized chromatin marked by CENP-A wrapped by repetitive DNA. These long stretches of repetitive DNA vary in length among human chromosomes. Using CENP-A genetic inactivation in human cells, we directly interrogate if differences in the centromere length reflect the heterogeneity of centromeric DNA-dependent features and whether this, in turn, affects the genesis of chromosome-specific aneuploidy. Using three distinct approaches, we show that mis-segregation rates vary among different chromosomes under conditions that compromise centromere function. Whole-genome sequencing and centromere mapping combined with cytogenetic analysis, small molecule inhibitors, and genetic manipulation revealed that inter-chromosomal heterogeneity of centromeric features, but not centromere length, influences chromosome segregation fidelity. We conclude that faithful chromosome segregation for most of human chromosomes is biased in favor of centromeres with high abundance of DNA-dependent centromeric components. These inter-chromosomal differences in centromere features can translate into non-random aneuploidy, a hallmark of cancer and genetic diseases.

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“…For instance, does the DNA sequence at centromeres even matter? As mentioned above, centromeric DNA is very rapidly evolving ( Henikoff et al 2001 ; Dumont and Fachinetti 2017 ). In addition, it has long been appreciated that the repetitive DNA at human centromeres is neither necessary nor sufficient for centromere function ( Earnshaw and Migeon 1985 ; Depinet et al 1997 ; du Sart et al 1997 ; Warburton et al 1997 ; Eichler 1999 ).…”

Section: Part 1: Centromeresmentioning

confidence: 99%

Cellular and Molecular Mechanisms of Centromere Drive

Lampson

Black

2017

Cold Spring Harb Symp Quant Biol

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The asymmetric outcome of female meiosis I, whereby an entire set of chromosomes are discarded into a polar body, presents an opportunity for selfish genetic elements to cheat the process and disproportionately segregate to the egg. Centromeres, the chromosomal loci that connect to spindle microtubules, could potentially act as selfish elements and “drive” in meiosis. We review the current understanding of the genetic and epigenetic contributions to centromere identity and describe recent progress in a powerful model system to study centromere drive in mice. The progress includes mechanistic findings regarding two main requirements for a centromere to exploit the asymmetric outcome of female meiosis. The first is an asymmetry between centromeres of homologous chromosomes, and we found this is accomplished through massive changes in the abundance of the repetitive DNA underlying centromeric chromatin. The second requirement is an asymmetry in the meiotic spindle, which is achieved through signaling from the oocyte cortex that leads to asymmetry in a posttranslational modification of tubulin, tyrosination. Together, these two asymmetries culminate in the biased segregation of expanded centromeres to the egg, and we describe a mechanistic framework to understand this process.

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DNA Sequences in Centromere Formation and Function

Cited by 26 publications

References 189 publications

Conservation, Divergence, and Functions of Centromeric Satellite DNA Families in the Bovidae

Conservation, Divergence, and Functions of Centromeric Satellite DNA Families in the Bovidae

Human chromosome‐specific aneuploidy is influenced by DNA ‐dependent centromeric features

Cellular and Molecular Mechanisms of Centromere Drive

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