76 research outputs found
The 14/15 association as a paradigmatic example of tracing karyotype evolution in New World monkeys
No full textFluorescence in situ hybridization (FISH), especially chromosome painting, has been extensively exploited in the phylogenetic reconstruction of primate evolution. Although chromosome painting is a key method to map translocations, it is not effective in detecting chromosome inversions, which may be up to four times more frequent than other chromosomal rearrangements. BAC-FISH instead can economically delineate marker order and reveal intrachromosomal rearrangements. However, up to now, BAC-FISH was rarely used to study the chromosomes of New World monkeys partly due to technical difficulties. In this paper, we used BAC-FISH to disentangle the complex evolutionary history of the ancestral 14/15 association in NWMs, beginning from the squirrel monkey (Saimiri boliviensis). To improve the hybridization efficiency of BAC-FISH in NWMs, we “translated” the human BACs into Callithrix jacchus (CJA) BACs, which yielded much higher hybridization efficiencies on other NWM species than human BACs. Our results disclosed 14 synteny blocks in squirrel monkeys, 7 more than with chromosome painting. We then applied a subset of CJA BACs on six other NWM species. The comparison of the hybridization pattern of these species contained phylogenetic information to discriminate evolutionary relationships. Notably Aotus was found to share an inversion with Callithrix, thus definitely assigning the genus Aotus to Cebidae. The present study can be seen as a paradigmatic approach to investigate the phylogenetics of NWMs by molecular cytogenetics
Rapid emergence of independent "chromosomal lineages" in silvered-leaf monkey triggered by Y/autosome translocation
No full textSex/autosome translocations are rare events. The only known example in catarrhines is in the silvered-leaf monkey. Here the Y chromosome was reciprocally translocated with chromosome 1. The rearrangement produced an X1X2Y1Y2sex chromosome system. At least three chromosomal variants of the intact chromosome 1 are known to exist. We characterized in high resolution the translocation products (Y1and Y2) and the polymorphic forms of the intact chromosome 1 with a panel of more than 150 human BAC clones. We showed that the translocation products were extremely rearranged, in contrast to the high level of marker order conservation of the other silvered-leaf monkey chromosomes. Surprisingly, each translocation product appeared to form independent "chromosome lineages"; each having a myriad of distinct rearrangements. We reconstructed the evolutionary history of the translocation products by comparing the homologous chromosomes of two other colobine species: the African mantled guereza and the Indian langur. The results showed a massive reuse of breakpoints: only 12, out of the 40 breaks occurred in domains never reused in other rearrangements, while, strikingly, some domains were used up to four times. Such frequent breakpoint reuse if proved to be a general phenomenon has profound implications for mechanisms of chromosome evolution
Eight million years of maintained heterozygosity in chromosome homologs of cercopithecine monkeys
No full textIn the Cercopithecini ancestor two chromosomes, homologous to human chromosomes 20 and 21, fused to form the Cercopithecini specific 20/21 association. In some individuals from the genus Cercopithecus, this association was shown to be polymorphic for the position of the centromere, suggesting centromere repositioning events. We set out to test this hypothesis by defining the evolutionary history of the 20/21 association in four Cercopithecini species from three different genera. The marker order of the various 20/21 associations was established using molecular cytogenetic techniques, including an array of more than 100 BACs. We discovered that five different forms of the 20/21 association were present in the four studied Cercopithecini species. Remarkably, in the two Cercopithecus species, we found individuals in which one homolog conserved the ancestral condition, but the other homolog was highly rearranged. The phylogenetic analysis showed that the heterozygosity in these two species originated about 8 million years ago and was maintained for this entire arc of time, surviving multiple speciation events. Our report is a remarkable extension of Dobzhansky’s pioneering observation in Drosophila concerning the maintenance of chromosomal heterozygosity due to selective advantage. Dobzhansky’s hypothesis recently received strong support in a series of detailed reports on the fruit fly genome. Our findings are first extension to primates, indeed to Old World monkeys phylogenetically close to humans of an analogous situation. Our results have important implications for hypotheses on how chromosome rearrangements, selection, and speciation are related
The restoration of a notable building: Palazzo Testa-Pelosi in Frigento
No full textWithin PON_MeTRiCs “Methodologies and technologies for the management and recovery of historical centres and prestige buildings” research project, the DiARC multidisciplinary research group coordinated by author, in order to verify the achieved methodological acquisitions, converged, in the research’s ending phase of Experimental Development – after the examination of some exemplarizing case studies – on the area in the North-West urban fabric of the historical Centre of Frigento. These project insights involved many disciplinary skills – the relief, the technological and environmental design, the restoration, the architectural and urban design – beginning with some basic preliminary contributions provided by the disciplines of history of architecture and the city. All these contributions and experiments had a significant moment of synthesis and integration in the project proposals for Palazzo Testa-Pelosi. This noble building of ancient construction, now in a ruinous state, was paradigmatic of a coherent intervention with the research themes and objectives in order to recover valuable artefacts, recognizing the historical and documental value of monumentum or of primary element (Rossi, 1966) to this vestige in relation with the urban fabric (Caniggia-Maffei, 1984). The case of Palazzo Testa-Pelosi, in this framework, is paradigmatic precisely because it raises a number of issues and theoretical and methodological hubs within research and design in the relationship between old and new, in the field of urban restoration and posttrauma building re-construction. A relationship that is particularly significant when the ancient, its vestiges being ruined largely lost their formal unity while retaining a significant testimonial value both for the urban location and for the spatial qualities, for the morphologicaltypological structure of which they represent a stable stage and relevant re-formulation
Chiaramonte Gulfi an experience of urban morphology
No full textThis paper is aimed to describe a project for the city of Chiaramonte Gulfi elaborated during the International Laboratory of Architecture_LId’A coordinated by Laura Thermes. In one of the laboratories – directed by the author with Federica Visconti and coordinated to those by Carlo Moccia and Marco Mannino – the team worked on the redefinition of the “city walls”. Over the 1970s, it resulted from the construction of a continuous line of buildings in relationship to agricultural divisions and peri-urban plots. The thin strip determined, on one hand, a new “urban artifact” of morphological value – even if of less architectural value – as a kind of city walls of the ancient city, and, on the other, it opposed the typical nebulized growth of the sprawl-city. The project aims to propose a comprehensive reformulation for this wall, working in some of the significant places, highlighting discontinuities, openings the city to the landscape and establishing new relationships between the Comiso’s plain below and the perched character – like in the acropolis – of the medieval centre, re-entering portions of nature still existing in the urban fabric. The project combines two ways of architectural composition, the stereotomic and the tectonic, and develops the theme of the bastion corresponding to a hiatus of the wall, proposing a new condition overlooking towards the landscape of the Comiso plain and, at the same time, representing an element of a distinctive and interconnected system of “places” able to establish long distance relationships and summarize the whole urban morphology and the geography of Chiaramonte
The great microbial beauty
No full textWith this book, Maureen O’Malley aimed to fill the gap
between the philosophy of microbes and the philosophy of
‘macrobes’ (a neologism coined by O’Malley and Dupre ́
to indicate cellular organisms other than microbes). After
a conceptual introduction, the first chapter reports two
exemplificative case studies, followed by brief perspec-
tives concerning the philosophical content of microbiology
and about the philosophy of biology in light of microbiolo-
gy. At page 41, the reader will find a bottleneck: from this
point up to the conclusions, the author will cover topics in
which the consideration of microbiology leads one to radi-
cally and/or incrementally rethink philosophy of biology
assumptions
Genome characterization and CRISPR-Cas9 editing of a human neocentromere
No full textThe maintenance of genome integrity is ensured by proper chromosome inheritance during mitotic and meiotic cell divisions. The chromosomal counterpart responsible for chromosome segregation to daughter cells is the centromere, at which the spindle apparatus attaches through the kinetochore. Although all mammalian centromeres are primarily composed of megabase-long repetitive sequences, satellite-free human neocentromeres have been described. Neocentromeres and evolutionary new centromeres have revolutionized traditional knowledge about centromeres. Over the past 20 years, insights have been gained into their organization, but in spite of these advancements, the mechanisms underlying their formation and evolution are still unclear. Today, through modern and increasingly accessible genome editing and long-read sequencing techniques, research in this area is undergoing a sudden acceleration. In this article, we describe the primary sequence of a previously described human chromosome 3 neocentromere and observe its possible evolution and repair results after a chromosome breakage induced through CRISPR-Cas9 technologies. Our data represent an exciting advancement in the field of centromere/neocentromere evolution and chromosome stability. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00412-022-00779-y
Mobile biomonitoring of atmospheric pollution: A new perspective for the moss-bag approach
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Open AccessArticle
Mobile Biomonitoring of Atmospheric Pollution: A New Perspective for the Moss-Bag Approach
by Maria Cristina Sorrentino 1,Fiore Capozzi 1ORCID,Karen Wuyts 2,Steven Joosen 3,Valentine K. Mubiana 3,Simonetta Giordano 1ORCID,Roeland Samson 2 andValeria Spagnuolo 1,*ORCID
1
Department of Biology, Campus Monte S. Angelo, University of Naples Federico II, Via Cinthia 4, 80126 Napoli, Italy
2
Department of Bioscience Engineering, Campus Groenenborgerlaan 171, University of Antwerp, 2020 Antwerp, Belgium
3
Department of Biology, Campus Groenenborgerlaan 171, University of Antwerp, 2020 Antwerp, Belgium
*
Author to whom correspondence should be addressed.
Plants 2021, 10(11), 2384; https://doi.org/10.3390/plants10112384
Received: 11 October 2021 / Revised: 26 October 2021 / Accepted: 3 November 2021 / Published: 5 November 2021
(This article belongs to the Special Issue The Potential of Plants to Absorb Xenobiotics)
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Abstract
In this work the potential of moving moss-bags, fixed to bicycles, to intercept particulate matter (PM) and linked metal(loid)s was tested for the first time. Seven volunteers carried three moss-bags for fifty days while commuting by bicycle in the urban area of Antwerp, Belgium. Moreover, one bike, equipped with mobile PM samplers, travelled along four routes: urban, industrial, green route and the total path, carrying three moss-bags at each route. The saturation isothermal remanent magnetization (SIRM) signal and chemical composition (assessed by HR-ICP-MS) of the moss samples indicated that the industrial route was the most polluted. Element fluxes (i.e., the ratio between element daily uptake and the specific leaf area) could discriminate among land uses; particularly, they were significantly higher in the industrial route for Ag, As, Cd and Pb; significantly lowest in the green route for As and Pb; and comparable for all accumulated elements along most urban routes. A comparison with a previous experiment carried out in the same study area using similar moss-bags at static exposure points, showed that the element fluxes were significantly higher in the mobile system. Finally, PM2.5 and PM10 masses measured along the four routes were consistent with element fluxes
Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: A case report
No full textIntroduction. Premature ovarian failure is defined as the cessation of ovarian activity before the age of 40 years. It is biochemically characterized by low levels of gonadal hormones (estrogens and inhibins) and high levels of gonadotropins (luteinizing hormone and follicle-stimulating hormone). Case presentation. Our patient, a 22-year-old Caucasian woman under evaluation for infertility, had experienced secondary amenorrhea from the age of 18. No positive family history was noted regarding premature menopause. An examination of our patient's karyotype showed the presence of a reciprocal translocation, apparently balanced, which had the X chromosome long arm (q13) and the 14 chromosome short arm (p12) with consequent karyotype: 46, X, t(X; 14)(q13;p12). Conclusions: Our study has underlined that karyotyping is one of the fundamental investigations in the evaluation of amenorrhea. It highlighted a genetic etiology, in the form of a chromosomal abnormality, as the causal factor in amenorrhea. © 2012 Dell'Edera et al.; licensee BioMed Central Ltd
Inversion variants in human and primate genomes
No full textFor many years, inversions have been proposed to be a direct driving force in speciation since they suppress recombination when heterozygous. Inversions are the most common large-scale differences among humans and great apes. Nevertheless, they represent large events easily distinguishable by classical cytogenetics, whose resolution, however, is limited. Here, we performed a genome-wide comparison between human, great ape, and macaque genomes using the net alignments for the most recent releases of genome assemblies. We identified a total of 156 putative inversions, between 103 kb and 91 Mb, corresponding to 136 human loci. Combining literature, sequence, and experimental analyses, we analyzed 109 of these loci and found 67 regions inverted in one or multiple primates, including 28 newly identified inversions. These events overlap with 81 human genes at their breakpoints, and seven correspond to sites of recurrent rearrangements associated with human disease. This work doubles the number of validated primate inversions larger than 100 kb, beyond what was previously documented. We identified 74 sites of errors, where the sequence has been assembled in the wrong orientation, in the reference genomes analyzed. Our data serve two purposes: First, we generated a map of evolutionary inversions in these genomes representing a resource for interrogating differences among these species at a functional level; second, we provide a list of misassembled regions in these primate genomes, involving over 300 Mb of DNA and 1978 human genes. Accurately annotating these regions in the genome references has immediate applications for evolutionary and biomedical studies on primates
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