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Svartman, M.

Publications and source records attributed to Svartman, M..

3 recordsLinked to original sources

De novo identification of satellite DNAs in the sequenced genomes of Drosophila virilis and D. americana using the RepeatExplorer and TAREAN pipelines

Satellite DNAs are among the most abundant repetitive DNAs found in eukaryote genomes, where they participate in a variety of biological roles, from being components of important chromosome structures to gene regulation. Experimental methodologies used before the genomic era were not sufficient despite being too laborious and time-consuming to recover the collection of all satDNAs from a genome. Today, the availability of whole sequenced genomes combined with the development of specific bioinformatic tools are expected to foster the identification of virtually all of the \"satellitome\" from a particular species. While whole genome assemblies are important to obtain a global view of genome organization, most assemblies are incomplete and lack repetitive regions. Here, we applied short-read sequencing and similarity clustering in order to perform a de novo identification of the most abundant satellite families in two Drosophila species from the virilis group: Drosophila virilis and D. americana. These species were chosen because they have been used as a model to understand satDNA biology since early 70s. We combined computational tandem repeat detection via similarity-based read clustering (implemented in Tandem Repeat Analyzer pipeline - \"TAREAN\") with data from the literature and chromosome mapping to obtain an overview of satDNAs in D. virilis and D. americana. The fact that all of the abundant tandem repeats we detected were previously identified in the literature allowed us to evaluate the efficiency of TAREAN in correctly identifying true satDNAs. Our results indicate that raw sequencing reads can be efficiently used to detect satDNAs, but that abundant tandem repeats present in dispersed arrays or associated with transposable elements are frequent false positives. We demonstrate that TAREAN with its parent method RepeatExplorer, may be used as resources to detect tandem repeats associated with transposable elements and also to reveal families of dispersed tandem repeats.

genomics↗

An eutherian intronic sequence gave rise to a major satellite DNA in Platyrrhini

Satellite DNAs (satDNAs) are major components of eukaryote genomes. However, because of their quick divergence, the evolutionary origin of a given satDNA family can rarely be determined. Herein we took advantage of available primate sequenced genomes to determine the origin of the CapA satDNA (~1,500 bp long monomers), first described in Sapajus apella. We show that CapA is an abundant satDNA in Platyrrhini, whereas in the genomes of most eutherian mammals, including humans, this sequence is present only as a single copy located within a large intron of the NOS1AP (nitric oxid synthase 1 adaptor protein) Gene. Our data suggest that this intronic CapA-like sequence gave rise to the CapA satDNA and we discuss possible mechanisms implicated in this event. This is the first report of a single copy intronic sequence giving origin to a satDNA that reaches up to 100,000 copies in some genomes.

genomics↗

Concomitant Duplication Of The Cid And Cenp-C Genes In Drosophila

The constitutive centromeric proteins CenH3 and Cenp-C are interdependent in their role of establishing centromere identity and function. In a recent paper, Kursel and Malik (February 2017; doi: 10.1093/molbev/msx091) reported that the Drosophila CenH3 homologue Cid underwent four independent duplication events during evolution. Particularly interesting is the duplication that took place in the common ancestor of the Drosophila subgenus and led to the subfunctionalization and high divergence of the Cid1 and Cid5 paralogs. Here, we describe another independent Cid duplication (Cid1 leading to Cid6) in the buzzatii cluster (repleta group) of the Drosophila subgenus. Moreover, we found that, in addition to the Cid1/Cid5 duplication, Cenp-C was also duplicated (Cenp-C1, Cenp-C2) in the common ancestor of the Drosophila subgenus. Analyses of expression and tests for positive selection indicate that both Cid5 and Cenp-C2 are male germline-biased and evolved adaptively, indicating subfunctionalization of the Cid and Cenp-C paralogs. Our findings further highlight the strong interdependence between CenH3 and Cenp-C, paving the way to new perspectives by which centromere function and evolution can be addressed.

genetics↗