On the mode of evolution of alpha satellite DNA in human populations

Marçais, B.; Charlieu, Jean-Paul; Allain, Barbara; Brun, E.; Bellis, Michel; Roizès, Gérard

doi:10.1007/bf02100194

Cited by 23 publications

(14 citation statements)

References 32 publications

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“…Also, it is not our intention to give the ira-pression that the presented data on D. schiavazzii satDNAs can explain all aspects of satDNA evolution in all species. Other mechanisms, such as "saltatory amplification steps" (Mar~ais et al 1991), have also been proposed. Unfortunately, there are no models available that quantify the impact of such processes; thus, they were neglected in the present study.…”

Section: Discussionmentioning

confidence: 99%

Tandemly repeated satellite DNA ofDolichopoda schiavazzii: A test for models on the evolution of highly repetitive DNA

1996

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Three specific satellite DNA families can be detected in the genome of the cave cricket Dolichopoda schiavazzii. The pDoP102 and the pDsPv400 families are species specific for D. schiavazzii; the pDoP500 family is probably present in all Dolichopoda species. The three satellite DNA families were characterized from individuals of three isolated populations of D. schiavazzii with respect to nucleotide sequence, sequence complexity, sequence variability, and copy number. This unique data set on satellite DNAs of D. schiavazzii seems to allow one to test the significance of theoretical approaches to the mode of evolution of noncoding, tandemly arranged satellite DNA. At least for satellite DNAs of D. schiavazzii two clear trends were observed: (1) sequence variability increases with copy number and (2) the repeat length decreases with copy number. The first trend is in good agreement with the theory but the second is not. Thus, a revision of the models is proposed.

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Section: Discussionmentioning

confidence: 99%

Tandemly repeated satellite DNA ofDolichopoda schiavazzii: A test for models on the evolution of highly repetitive DNA

1996

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“…It is not unreasonable to suggest that these events could also be stimulated by I-R dysgenesis-induced heterochromatic recombination. Interestingly, L1 elements were suggested to be involved in the generation of heterochromatic variability in human chromosomes (40). Further investigations on the interactions between LINEs and heterochromatic regions will be necessary to further clarify the impact of TEs upon heterochromatin evolution in eukaryotes.…”

Section: Discussionmentioning

confidence: 99%

High genetic instability of heterochromatin after transposition of the LINE-like I factor in Drosophila melanogaster

Dimitri

Arcà

Berghella

et al. 1997

Proc. Natl. Acad. Sci. U.S.A.

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In the present work, we have asked whether a group of 13 essential genes mapping to the heterochromatin of Drosophila melanogaster chromosome 2 are mutable following transposition of the I factor during I-R hybrid dysgenesis. We found that the frequency of lethal events mapping to chromosome 2 heterochromatin is surprisingly high, despite the low density of genetic functions identified in this region compared with euchromatin. Cytogenetic and molecular analyses indicated that the recovered mutations correspond either to insertions or to rearrangements. Moreover, chromosomes bearing specific heterochromatic lethal mutations were generated by recombination in the heterochromatin. Together, these data indicate that I factors transpose with high frequency into pericentric regions of chromosome 2 and may play a role in the evolution of constitutive heterochromatin.Transposable elements (TEs) are repetitive mobile DNA sequences identified in a wide variety of organisms, ranging from bacteria to humans. These elements generally constitute 10-20% of the total eukaryotic genome (1). Besides their euchromatic location, TE-homologous sequences are frequently found in the heterochromatin of many species, including humans (2-7). In particular, recent studies have clearly established that in Drosophila melanogaster several clusters of retrotransposon-homologous sequences are present throughout the constitutive heterochromatin of all chromosomes (8).TE accumulation represents one of the most intriguing aspects of the structure and organization of Drosophila heterochromatin. It has been suggested that heterochromatic regions may contain hotspots for TE insertions (9). Alternatively, the accumulation of TEs into heterochromatin might result from the combined effect of the genetic inertness and the inability of this part of the genome to undergo meiotic recombination (10); according to the latter hypothesis, transposition into constitutive heterochromatin would generally not give rise to mutational events with detrimental effects on fitness. However, D. melanogaster heterochromatin contains several single-copy and repetitive genetic loci (11) which a priori should not escape TE-mediated mutagenesis. Although it is well established that TEs are a major source of spontaneous euchromatic mutations in D. melanogaster, little is known about mutability of heterochromatic genes following transposition. Only a few studies have shown that normal or modified P elements, which mobilize through a DNA intermediate, are able to insert into the heterochromatin and can indeed cause insertional mutations (12-14). In addition, R1 and R2 retroelements insert at specific sites in the heterochromatic 28S rRNA genes of Drosophila (15), thus inactivating transcription of the rDNA unit. These elements belong to the evolutionarily widespread family of non-long terminal repeat (non-LTR) elements which are mobilized by reverse transcription of an RNA intermediate. Representatives of this category also include mammalian L1 sequences and both the Het...

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“…Marçais et al [45] and Prades et al [44] observed that the block of alphoid DNA at the centromeres of human chromosomes is susceptible to variations in length created by jumping ampli�cation, with an unequal exchange of large alphoid domains between homologous chromosomes, and deletions of large DNA segments. Probably, through a similar mechanism, these Alu-like sequences retrotransposed within the T. torpedo genome to speci�c sites such as telomeric regions that are particularly exposed to a new insertion of transposable elements [46].…”

Section: Characterization Of Repeated Sequencesmentioning

confidence: 99%

Molecular and Chromosomal Markers for Evolutionary Considerations in Torpediniformes (Chondrichthyes, Batoidea)

Rocco

2013

ISRN Genetics

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Due to their basal position in the vertebrate phylogenetic tree, the study on elasmobranch genetics and cytogenetics can provide remarkable information on the mechanisms underlying the evolution of all vertebrates. In recent years, different molecular approaches have been used to study the relationships between the different taxonomic groups of cartilaginous �sh, among them are the physical mapping of speci�c nucleotide sequences on chromosomes. However, these are controversial, particularly in Torpediniformes in which the species have different karyological parameters. e purpose of this paper is to gather the molecular markers so far present in literature that were used to reconstruct the phylogenetic position of Torpediniformes with respect to the other Batoidea and to discriminate between the various chromosome pairs in the endemic species in the Mediterranean Sea, Torpedo torpedo, T. marmorata and T. nobiliana. e 5S and 18S ribosomal DNA, the HpaI and Alu SINE, the telomeric (TTAGGG)n and the spermatogenesis-related SPATA 16, SPATA 18, and UTY sequences were particularly useful. ese last genomic segments were also able to differentiate between the male and the female karyotypes. Moreover, the torpedoes showed a particular genomic organization, especially Torpedo torpedo, in which large quantities of highly repeated DNA and a characteristic distribution of heterochromatin, which is never centromeric, were observed.

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On the mode of evolution of alpha satellite DNA in human populations

Cited by 23 publications

References 32 publications

Tandemly repeated satellite DNA ofDolichopoda schiavazzii: A test for models on the evolution of highly repetitive DNA

Tandemly repeated satellite DNA ofDolichopoda schiavazzii: A test for models on the evolution of highly repetitive DNA

High genetic instability of heterochromatin after transposition of the LINE-like I factor in Drosophila melanogaster

Molecular and Chromosomal Markers for Evolutionary Considerations in Torpediniformes (Chondrichthyes, Batoidea)

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