The Role of Satellite DNA in Causing Structural Rearrangements in Human Karyotype

Puppo, I. L.; Saifitdinova, Alsu; Tonyan, Ziravard N.

doi:10.1134/s1022795419080155

Cited by 8 publications

(13 citation statements)

References 71 publications

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“…The presence of genomic satellite DNA arrays can facilitate the formation of chromosome rearrangements and thus karyotype and species evolution [ 29 , 72 , 73 ]. The deer chromosome evolution from the ancestral karyotype (2n = 70) was driven by centric and tandem fusions at the simultaneous reduction in the chromosome number [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

Satellite DNA in Neotropical Deer Species

Vozdová

Kubı́čková

Martínková

et al. 2021

Genes

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The taxonomy and phylogenetics of Neotropical deer have been mostly based on morphological criteria and needs a critical revision on the basis of new molecular and cytogenetic markers. In this study, we used the variation in the sequence, copy number, and chromosome localization of satellite I-IV DNA to evaluate evolutionary relationships among eight Neotropical deer species. Using FISH with satI-IV probes derived from Mazama gouazoubira, we proved the presence of satellite DNA blocks in peri/centromeric regions of all analyzed deer. Satellite DNA was also detected in the interstitial chromosome regions of species of the genus Mazama with highly reduced chromosome numbers. In contrast to Blastocerus dichotomus, Ozotoceros bezoarticus, and Odocoileus virginianus, Mazama species showed high abundance of satIV DNA by FISH. The phylogenetic analysis of the satellite DNA showed close relationships between O. bezoarticus and B. dichotomus. Furthermore, the Neotropical and Nearctic populations of O. virginianus formed a single clade. However, the satellite DNA phylogeny did not allow resolving the relationships within the genus Mazama. The high abundance of the satellite DNA in centromeres probably contributes to the formation of chromosomal rearrangements, thus leading to a fast and ongoing speciation in this genus, which has not yet been reflected in the satellite DNA sequence diversification.

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Section: Discussionmentioning

confidence: 99%

Satellite DNA in Neotropical Deer Species

Vozdová

Kubı́čková

Martínková

et al. 2021

Genes

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“…Regardless of the common satDNA composition, centromeric and pericentromeric chromatin are structurally different, essentially because centromeres are epigenetically compatible with kinetochore assembly and chromosome segregation, while pericentromeric regions have a typical heterochromatic behavior [ 26 ]. Thus, the ubiquitous centromeric presence of α satellite sequences is contrasted by the nature of pericentromeric satellite families that clearly behave in a more non-homogenous manner [ 23 , 29 , 55 ], frequently leading to incongruences about their overall existence and location in the human genome [ 95 ]. Human centromeres are not only composed of satellite sequences, but also contain mobile elements, including LINEs and SINEs (Long/Small Interspersed Nuclear Elements), already described both in HOR arrays and monomeric repeats [ 13 , 95 ].…”

Section: Human Satellite Dna Familiesmentioning

confidence: 99%

“…Human centromeres are not only composed of satellite sequences, but also contain mobile elements, including LINEs and SINEs (Long/Small Interspersed Nuclear Elements), already described both in HOR arrays and monomeric repeats [ 13 , 95 ]. Hence, the centromeric region of human chromosomes is mostly composed of α HORs, eventually punctuated by transposable elements (TEs) [ 96 , 97 ], and progressively replaced by pericentromeric satellite families (classical satellites and β/γ satellites) [ 23 ]. Table 1 presents a summary of the available information about human satellite families.…”

Section: Human Satellite Dna Familiesmentioning

confidence: 99%

“…SatDNA sequences can be distinguished by a multitude of dissimilar features, like nucleotide sequence composition, complexity, and abundance, although their major shared characteristics cannot be dismissed: the capacity to form heterochromatic regions and the intrinsic propensity to form long tandemly organized arrays [ 17 ]. The apparent unlikelihood of a discernible role ascribed to repetitive sequences (and therefore to satellite DNA) did not prevent the continuous emergence of a variety of studies, essentially focusing on investigating these sequences in terms of their associated functions [ 5 , 11 , 14 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 ]. Thus, the idea of a potential function was parsimoniously considered: the common presence of genomic repetitive sequences could have some underlying meaning [ 17 ].…”

Section: Introductionmentioning

confidence: 99%

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Genomic Tackling of Human Satellite DNA: Breaking Barriers through Time

Lopes

Louzada

Gama‐Carvalho

et al. 2021

IJMS

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(Peri)centromeric repetitive sequences and, more specifically, satellite DNA (satDNA) sequences, constitute a major human genomic component. SatDNA sequences can vary on a large number of features, including nucleotide composition, complexity, and abundance. Several satDNA families have been identified and characterized in the human genome through time, albeit at different speeds. Human satDNA families present a high degree of sub-variability, leading to the definition of various subfamilies with different organization and clustered localization. Evolution of satDNA analysis has enabled the progressive characterization of satDNA features. Despite recent advances in the sequencing of centromeric arrays, comprehensive genomic studies to assess their variability are still required to provide accurate and proportional representation of satDNA (peri)centromeric/acrocentric short arm sequences. Approaches combining multiple techniques have been successfully applied and seem to be the path to follow for generating integrated knowledge in the promising field of human satDNA biology.

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“…Whilst preserving chromosome integrity (Plohl et al 2008; Bierhoff et al 2014; Ershova et al 2019), tandem repeats can potentially represent beacons of instability in cancer genomes (de Lima et al 2021). Chromosome breaks tend to occur in pericentromeric satellite regions (Black and Giunta 2018), possibly altering the regulation of transcription of satellite sequences (Ferreira et al 2015; Puppo et al 2020). By its turn, available pericentromeric chromatin in cancer might also predispose chromosomes to break (Louzada et al 2020).…”

Section: Introductionmentioning

confidence: 99%

Human Satellite 1 (HSAT1) analysis provides novel evidence of pericentromeric transcription

Lopes¹,

Louzada²,

Ferreira³

et al. 2022

Preprint

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Pericentromeric regions of human chromosomes are composed of tandem-repeated and highly organized sequences named satellite DNAs. Although being known for a long time as the most AT-rich fraction of the human genome, classical satellite HSAT1 has been disregarded in genomic and transcriptional studies, falling behind other human satellites in terms of knowledge. The path followed herein trails with HSAT1 isolation and cloning, followed by in silico analysis. Monomer copy number and expression data was obtained in a wide variety of human cell lines, with greatly varying profiles in tumoral/non-tumoral samples. HSAT1 was mapped in human chromosomes and applied in in situ transcriptional assays. Additionally, it was possible to observe the nuclear organization of HSAT1 transcripts and further characterize them by 3′ RACE-Seq. Size-varying polyadenylated HSAT1 transcripts were detected, which possibly accounts for the intricate regulation of alternative polyadenylation. As far as we know, this work pioneers HSAT1 transcription studies. With the emergence of new human genome assemblies, acrocentric pericentromeres are becoming relevant characters in disease and other biological contexts. HSAT1 sequences and associated noncoding RNAs will most certainly prove significant in the future of HSAT research.

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The Role of Satellite DNA in Causing Structural Rearrangements in Human Karyotype

Cited by 8 publications

References 71 publications

Satellite DNA in Neotropical Deer Species

Satellite DNA in Neotropical Deer Species

Genomic Tackling of Human Satellite DNA: Breaking Barriers through Time

Human Satellite 1 (HSAT1) analysis provides novel evidence of pericentromeric transcription

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