Retrotransposon mapping in spider monkey genomes of the family Atelidae (Platyrrhini, Primates) shows a high level of LINE-1 amplification

To investigate the distribution of LINE-1 repeat sequences, a LINE-1 probe was Fluorescence In Situ Hybridized (FISH) on the chromosomes of Ateles geoffroyi and Ateles fusciceps (Atelidae); a LINE-1 probe was also mapped on Cebuella pygmaea (Cebidae) and used as an outgroup for phylogenetic comparison. Ateles spider monkeys have a highly rearranged genome and are an ideal model for testing whether LINE-1 is involved in genome evolution. The LINE-1 probe has been mapped in the two Atelidae species for the first time, revealing a high accumulation of LINE-1 sequences along chromosomal arms, including telomeres, and a scarcity of LINE-1 signals at centromere positions. LINE-1 mapping in C. pyg…

Chromosome sorting and multi-directional painting in New World Primates.

Phylogenomics of species from four genera of New World monkeys by flow sorting and reciprocal chromosome painting

Abstract Background The taxonomic and phylogenetic relationships of New World monkeys (Platyrrhini) are difficult to distinguish on the basis of morphology and because diagnostic fossils are rare. Recently, molecular data have led to a radical revision of the traditional taxonomy and phylogeny of these primates. Here we examine new hypotheses of platyrrhine evolutionary relationships by reciprocal chromosome painting after chromosome flow sorting of species belonging to four genera of platyrrhines included in the Cebidae family: Callithrix argentata (silvered-marmoset), Cebuella pygmaea (pygmy marmoset), Callimico goeldii (Goeldi's marmoset) and Saimiri sciureus (squirrel monkey). This is t…

Studio sull’origine e l’evoluzione del cromosoma 4 dell’uomo mediante la citogenetica molecolare comparata

Evolutionary and transcriptional analyses of a pentraxin-like component family involved in the LPS inflammatory response of Ciona robusta

Pentraxins (PTXs) are a superfamily of conserved proteins which are components of the humoral arm of innate immunity. They are considered to be functional ancestors of antibodies and are classified into short and long types. In this study, we show that a pentraxin-like component (Ptx-like) with a C-terminal PTX domain, highly homologous to the short PTX of H. sapiens CRP, and a long N-terminal domain typical of long PTXs, is involved in the inflammatory response of Ciona robusta under LPS exposure in vivo. Analyses of protein domains as well as 3D modelling and phylogenetic tree supported the close relationship of Ptx-like with mammalian CRP, suggesting that C. robusta Ptx-like shares a com…

Ciona robusta macrophage migration inhibitory factor (Mif1 and Mif2) genes are differentially regulated in the lipopolysaccharide-challenged pharynx

The effects of lipopolysaccharide (LPS) on Mif (macrophage migration inhibitory factor) gene expression in the pharynx (haemapoetic tissue) of Ciona robusta were investigated using quantitative reverse-transcription PCR (qRT-PCR) and in situ hybridisation (ISH). To verify the induction of an inflammatory response in the pharynx, a qRT-PCR analysis was performed to evaluate the change in the expression of proinflammatory marker genes such as Mbl, Ptx-like, Tnf-α and Nf-kb, which were shown to be upregulated 1 h post LPS challenge. The change in the expression of the two Mif paralogs in the pharynx was assessed before and after stimulation, and qRTPCR and ISH results showed that, although Mif…

Centromeric enrichment of LINE-1 retrotransposon in two species of South American monkeys Alouatta belzebul and Ateles nancymaae (Platyrrhini, Primates)

LINE-1 sequences have been linked to genome evolution, plasticity and speciation; however, despite their importance, their chromosomal distribution is poorly known in primates. In this perspective, we used fluorescence in situ hybridization (FISH) to map LINE-1 probes onto two representative platyrrhine species, Aotus nancymaae (Cebidae) and Alouatta belzebul (Atelidae), both characterized with highly rearranged karyotypes, in order to investigate their chromosomal distribution and role and to better characterize the two genomes. We found centromeric enrichment of LINE-1 sequences on all biarmed and acrocentric chromosomes co-localized with heterochromatin C-positive bands. This distributio…

Evolutionary insight on localization of 18S, 28S rDNA genes on homologous chromosomes in Primates genomes

Abstract We explored the topology of 18S and 28S rDNA units by fluorescence in situ hybridization (FISH) in the karyotypes of thirteen species representatives from major groups of Primates and Tupaia minor (Günther, 1876) (Scandentia), in order to expand our knowledge of Primate genome reshuffling and to identify the possible dispersion mechanisms of rDNA sequences. We documented that rDNA probe signals were identified on one to six pairs of chromosomes, both acrocentric and metacentric ones. In addition, we examined the potential homology of chromosomes bearing rDNA genes across different species and in a wide phylogenetic perspective, based on the DAPI-inverted pattern and their synteny t…

Distribution of Interstitial Telomeric Sequences in Primates and the Pygmy Tree Shrew (Scandentia).

It has been hypothesized that interstitial telomeric sequences (ITSs), i.e., repeated telomeric DNA sequences found at intrachromosomal sites in many vertebrates, could be correlated to chromosomal rearrangements and plasticity. To test this hypothesis, we hybridized a telomeric PNA probe through FISH on representative species of 2 primate infraorders, Strepsirrhini (<i>Lemur catta, Otolemur garnettii, Nycticebus coucang</i>) and Catarrhini (<i>Erythrocebus patas, Cercopithecus petaurista, Chlorocebus aethiops, Colobus guereza</i>), as well as on 1 species of the order Scandentia, <i>Tupaia minor</i>, used as an outgroup for primates in phylogenetic recon…

Massive LINE-1 retrotransposon enrichment in tamarins of the Cebidae family (Platyrrhini, Primates) and its significance for genome evolution

To study heterochromatin distribution differences among tamarins, we applied LINE-1 probes using fluorescence in situ hybridization onto chromosomes of Saguinus mystax, Leontocebus fuscicollis, and Leontopithecus rosalia with the aim to investigate possible evolutionary implications. LINE-1 repeats were shown to be involved in genome architecture and in the occurrence of chromosomal rearrangements in many vertebrates. We found bright LINE-1 probe signals at centromeric or pericentromeric areas, GC rich, on almost all chromosomes in three tamarin species. We also found non-centromeric signals along chromosome arms. In a phylogenetic perspective, we analyzed the pattern of LINE-1 distribution…

Identificazione tassonomica di Aotus (Platyrrhinae) mediante la citogenetica

Exploring Evolution in Ceboidea (Platyrrhini, Primates) by Williams-Beuren Probe (HSA 7q11.23) Chromosome Mapping

The ancestral platyrrhine karyotype was characterised by a syntenic association of human 5 and a small segment of human 7 orthologues. This large syntenic association has undergone numerous rearrangements in various phylogenetic lines. We used a locus-specific molecular cytogenetic approach to study the chromosomal evolution of the human 7q11.23 orthologous sequences (William-Beuren syndrome, WS) in various Ceboidea (Platyrrhini) species. The fluorescent in situ hybridisation of the WS probe revealed a two-way pattern of chromosomal organisation that suggests various evolutionary scenarios. The first pattern (seen in Callimico and Saimiri ) includes a fairly simple disruption of the 7/5 syn…

Reciprocal chromosome painting on C. argentata, C. pygmaea, C. goeldii, and S. sciureus strongly supports the molecular based Cebidae Family grouping

Mapping CAP-A satellite DNAs by FISH in Sapajus cay paraguay and S. macrocephalus (Platyrrhini, Primates)

Satellite DNAs such as Cap-A sequences are potentially informative taxonomic and phylogenetic markers useful for characterizing primate genomes. They have also been used as cytogenetic markers facilitating species identification in many taxa. The aim of this work is to map Cap-A sequences by FISH (fluorescent in situ hybridization) on two Platyrrhini (Primates) species genomes, Sapajus cay paraguay and S. macrocephalus, in order to study their distribution pattern on chromosomes. The Cap-A probes showed bright signals with almost the same interstitial pattern of distribution in correspondence with C and CMA3 rich regions on six pairs of chromosomes in both Sapajus species. An additional pai…

Neotropical primate evolution and phylogenetic reconstruction using chromosomal data

Platyrrhini are a group of Neotropical primates living in central and south America, and have been extensively studied through morphological and molecular data in order to shed light on their phylogeny and evolution. Agreement on the main clades of Neotropical primates has been reached using different approaches, but many phylogenetic nodes remain under discussion. Contrasting hypotheses have been proposed, presumably due to different markers and the presence of polymorphisms in the features considered; furthermore, neither Neotropical primate biodiversity nor their taxonomy are entirely known. In our perspective, a cytogenetic approach can help by making an important contribution to the ev…

Riarrangiamenti cromosomici: i nuovi centromeri evolutivi nei primati. (Chromosomal rearrangements: evolutionary new centromeres in primates).

The evolution of human synteny 4 by mapping sub-chromosomal specific probes in Primates

Comparative cytogenetic data concerning the orthologue to human chromosome 4 in primates shows that this chromosome is conserved between humans and non-human primates. However, the degree of conservation is not as high as previously estimated. In primates it is as a rule a large submetacentric chromosome but many exceptions are known especially in taxa characterized by a high level of chromosomal rearrangements. The rearrangements that have been visualized by chromosome painting so far, which are mostly interchromosomal changes, are in fact only a fraction of the actual chromosomal changes that have occurred during evolution. Intrachromosome changes can be analysed through classical cytogen…

Study of phylogenetic relationship in platyrrhinae by single locus probe mapping

Mapping genomic rearrangements in titi monkeys by chromosome flow sorting and multidirectional in-situ hybridization.

We developed chromosome painting probes for Callicebus pallescens from flow-sorted chromosomes and used multidirectional chromosome painting to investigate the genomic rearrangements in C. cupreus and C. pallescens. Multidirectional painting provides information about chromosomal homologies at the subchromosomal level and rearrangement break points, allowing chromosomes to be used as cladistic markers. Chromosome paints of C. pallescens were hybridized to human metaphases and 43 signals were detected. Then, both human and C. pallescens probes were hybridized to the chromosomes of another titi monkey, C. cupreus. The human chromosome paints detected 45 segments in the haploid karyotype of C.…

Studio delle relazioni filogenetiche nell’infraordine Plathyrrinae attraverso l’approccio del Multidirectional Painting

Repetitive sequence distribution on Saguinus, Leontocebus and Leontopithecus tamarins (Platyrrhine, Primates) by mapping telomeric (TTAGGG) motifs and rDNA loci

Simple Summary Telomeric and rDNA sequence distribution on tamarins (New world monkeys, Primates) was analysed through molecular cytogenetics by fluorescence in situ hybridization. The mapping of Telomeric and rDNA probes on chromosomes was performed in order to clarify their localization and role in genome evolution. We found rDNA loci on the same homologs 19–22 on the analysed species with a different position in one of them named Leontopithecus rosalia, presumably as result of inversions. Other rDNA signals could be present on chromosome 16 and 17. On the last species, we found the classic telomeric sequence with exceptions while on the other species analysed, we found very amplified tel…

localizzazione cromosomi ed analisi delle dinaniche evolutive del locus HSA7q11.23 William Beuren nei primati

Mapping Retrotransposon LINE-1 Sequences into Two Cebidae Species and Homo sapiens Genomes and a Short Review on Primates

This work focuses on the distribution of LINE-1 (a Long Interspersed Nuclear Element) in primates and its role during evolution and as a constituent of the architecture of primate genomes. To pinpoint the LINE-1 repeat distribution and its role among primates, LINE-1 probes were mapped onto chromosomes of Homo sapiens (Hominidae, Catarrhini), Sapajus apella, and Cebus capucinus (Cebidae, Platyrrhini) using fluorescence in situ hybridisation (FISH). The choice of platyrrhine species are due to the fact they are taxa characterised by a high level of rearrangements; for this reason, they could be a useful model for the study of LINE-1 and chromosome evolution. LINE-1 accumulation was found in …

Comparative Cytogenetics Allows the Reconstruction of Human Chromosome History: The Case of Human Chromosome 13

Comparative cytogenetics permits the identification of human chromosomal homologies and rearrangements between species, allowing the reconstruction of the history of each human chromosome. The aim of this work is to review evolutionary aspects regarding human chromosome 13. Classic and molecular cytogenetics using comparative banding, chromosome painting, and bacterial artificial chromosome (BAC) mapping can help us formulate hypotheses about chromosome ancestral forms; more recently, sequence data have been integrated as well. Although it has been previously shown to be conserved when compared to the ancestral primate chromosome, it shows a degree of rearrangements in some primate taxa; fu…

Molecular Cytogenetic Characterization of the Sicilian Endemic Pond Turtle Emys trinacris and the Yellow-Bellied Slider Trachemys scripta scripta (Testudines, Emydidae)

Turtles, a speciose group consisting of more than 300 species, demonstrate karyotypes with diploid chromosome numbers ranging from 2n = 26 to 2n = 68. However, cytogenetic analyses have been conducted only to 1/3rd of the turtle species, often limited to conventional staining methods. In order to expand our knowledge of the karyotype evolution in turtles, we examined the topology of the (TTAGGG)n telomeric repeats and the rDNA loci by fluorescence in situ hybridization (FISH) on the karyotypes of two emydids: the Sicilian pond turtle, Emys trinacris, and the yellow-bellied slider, Trachemys scripta scripta (family Emydidae). Furthermore, AT-rich and GC-rich chromosome regions were detected …

Intrachromosomal Telomeric Sequences Distribution in Ceboidea Can Reveal Insights into the Chromosomal Evolution in New World Primates

The evolution of human chromosome 4 sinteny by mapping bacs probe on non human primates

Filogenomica dei primati: evidenze dalla citogenetica molecolare

Multi-directional painting in loriform prosimians

Evoluzione del cromosoma 4 umano mediante mappaggio di sonde sub cromosomiche in Platyrrhinae, Primates

italiano

Chromosome Painting in Cercopithecus petaurista (Schreber, 1774) Compared to Other Monkeys of the Cercopithecini Tribe (Catarrhini, Primates)

The Cercopithecini tribe includes terrestrial and arboreal clades whose relationships are controversial, with a high level of chromosome rearrangements. In order to provide new insights on the tribe’s phylogeny, chromosome painting, using the complete set of human syntenic probes, was performed in Cercopithecus petaurista, a representative species of the Cercopithecini tribe. The results show C. petaurista with a highly rearranged karyotype characterized by the fission of human chromosomes 1, 2, 3, 5, 6, 8, 11, and 12. These results compared with the literature data permit us to confirm the monophyly of the Cercopithecini tribe (fissions of chromosomes 5 and 6), as previously proposed by ch…

Comparative Phylogenomic Data on Primates through Chromosomal Painting

phylogeny of Cercopithecini (Primates): new data from mapping locus specific Williams Beuren (HSA7q11.23)probe on Cercopithecus neglectus

Comparative molecular cytogenetics and genomics redefines phylogenetic and taxonomic relationship of new world monkeys.

Chromosome painting of the pygmy tree shrew shows that no derived cytogenetic traits link primates and scandentia.

We hybridized human chromosome paints on metaphases of the pygmy tree shrew (<i>Tupaia minor</i>, Scandentia). The lack of the ancestral mammalian 4/8 association in both Primates and Scandentia was long considered a cytogenetic landmark that phylogenetically linked these mammalian orders. However, our results show that the association 4/8 is present in <i>Tupaia </i>along with not previously reported associations for 1/18 and 7/10. Altogether there are 11 syntenic associations of human chromosome segments in the pygmy tree shrew karyotype: 1/18, 2/21, 3/21, 4/8, 7/10, 7/16, 11/20, 12/22 (twice), 14/15 and 16/19. Our data remove any cytogenetic evidence that Scandent…

Study of the Evolution of locus HSA7q11.23 by mapping the William-Beuren probe on Platyrrine (Primates)

Mapping the Wolf-Hirschhorn (wp 4p16.3) Locus on non-human primates

MOLECULAR CYTOGENETIC APPROACH BY WOLF-HIRSCHHORN PROBE-MAPPING AND OTHERS BAC PROBES TO STUDY GENOME EVOLUTION IN PRIMATES

Cytogenetics studies in the New Word Monkeys.

Chromosomal distribution of interstitial telomeric sequences in nine neotropical primates (Platyrrhini): possible implications in evolution and phylogeny

To localize interstitial telomeric sequences (ITSs) and to test whether their pattern of distribution could be linked to chromosomal evolution, we hybridized telomeric sequence probes (peptide nucleic acid, PNA) on metaphases of New World monkeys: Callithrix argentata, Callithrix jacchus, Cebuella pygmaea, Saguinus oedipus, Saimiri sciureus, Aotus lemurinus griseimembra, Aotus nancymaae (Cebidae), Lagothrix lagotricha (Atelidae) and Callicebus moloch (Pithecidae), characterized by a rapid radiation and a high rate of chromosomal rearrangements. Our analysis of the probe signal localization allowed us to show in all the species analysed, as normally, the telomeric location at the terminal en…

Filogeneomica comparata tra Primati e Scandentia: il mappaggio delle sonde cromosomiche umane su Tupaia minor (Scandentia)

Evolution of the human chromosome 13 synteny: Evolutionary rearrangements, plasticity, human disease genes and cancer breakpoints

The history of each human chromosome can be studied through comparative cytogenetic approaches in mammals which permit the identification of human chromosomal homologies and rearrangements between species. Comparative banding, chromosome painting, Bacterial Artificial Chromosome (BAC) mapping and genome data permit researchers to formulate hypotheses about ancestral chromosome forms. Human chromosome 13 has been previously shown to be conserved as a single syntenic element in the Ancestral Primate Karyotype

Chromosomal dynamics in platyrrhinae by mapping bacs probes

molecular cytogenetics, cloned DNA probe, new evolutionary centromere, human synteny 4, phylogeny

Multidirectional chromosome painting reveals a remarkable syntenic homology between the greater galagos and the slow loris.

We report on the first reciprocal chromosome painting of lorisoids and humans. The chromosome painting showed a remarkable syntenic homology between Otolemur and Nycticebus. Eight derived syntenic associations of human segments are common to both Otolemur and Nycticebus, indicative of a considerable period of common evolution between the greater galago and the slow loris. Five additional Robertsonian translocations form the slow loris karyotype, while the remaining chromosomes are syntenically equivalent, although some differ in terms of centromere position and heterochromatin additions. Strikingly, the breakpoints of the human chromosomes found fragmented in these two species are apparentl…

WILLIAMS-BEUREN MAPPING IN CALLITHRIX ARGENTATA, CALLICEBUS CUPREUS AND ALOUATTA CARAYA INDICATES DIFFERENT PATTERNS OF CHROMOSOMAL REARRANGEMENTS IN NEOTROPICAL PRIMATES

Human chromosome 7 has a complex syntenic origin. It was divided into two segments in both the ancestral primate karyotype and in Platyrrhini. Apparently, a small segment in the ancestral platyrrhine karyotype was associated with HSA5 and the remainder formed a middle-sized submetacentric. We tested the dynamics of platyrrhine chromosomes by hybridizing the locus specific Willams-Beuren probe (7q 11.23, 450 kb) to chromosomes of representative species from the three families of the New World monkeys recently proposed by molecular genomics: Cebidae, Callithrix argentata (bare ear marmoset or silvery marmoset, 2n = 44); Pitheciidae, Callicebus cupreus [red titi monkey, or coppery monkey, 2n =…

Phylogenetic Relationship Between Primates And Scadentia By Flow Sorting And Reciprocal Chromosome Painting

Transcriptomic and Bioinformatic Analyses Identifying a Central Mif-Cop9-Nf-kB Signaling Network in Innate Immunity Response of Ciona robusta

The Ascidian C. robusta is a powerful model for studying innate immunity. LPS induction activates inflammatory-like reactions in the pharynx and the expression of several innate immune genes in granulocyte hemocytes such as cytokines, for instance, macrophage migration inhibitory factors (CrMifs). This leads to intracellular signaling involving the Nf-kB signaling cascade that triggers downstream pro-inflammatory gene expression. In mammals, the COP9 (Constitutive photomorphogenesis 9) signalosome (CSN) complex also results in the activation of the NF-kB pathway. It is a highly conserved complex in vertebrates, mainly engaged in proteasome degradation which is essential for maintaining proc…

Citogenetica Molecolare e Filogenomica dei Primati del Nuovo Mondo

Reciprocal painting and Fission Breakpoints to analyse the phylogenetic relationshi among Titi monkeys.

HUMAN CHROMOSOME 4 SYNTENIC ASSOCIATIONS IN PLACENTAL MAMMALS