A5051714390- Chromosomal and Genetic Variations
- Telomeres, Telomerase, and Senescence
- DNA Repair Mechanisms
- CRISPR and Genetic Engineering
- Genomics and Chromatin Dynamics
- Genetic Mapping and Diversity in Plants and Animals
- Genomics and Phylogenetic Studies
- Genetic and phenotypic traits in livestock
- Molecular Biology Techniques and Applications
- Genetic diversity and population structure
- Genomic variations and chromosomal abnormalities
- Carcinogens and Genotoxicity Assessment
- Animal Genetics and Reproduction
- Plant Genetic and Mutation Studies
- DNA and Nucleic Acid Chemistry
- Virus-based gene therapy research
- Biochemical and Molecular Research
- Cancer Research and Treatments
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- RNA Interference and Gene Delivery
- Genetics, Aging, and Longevity in Model Organisms
- Plant Virus Research Studies
- Epigenetics and DNA Methylation
- Cancer-related Molecular Pathways
University of Pavia
2015-2025
Istituto Nazionale per le Malattie Infettive Lazzaro Spallanzani
2022
Sorbonne Université
2015
University of Bologna
2015
Pitié-Salpêtrière Hospital
2015
Institute of Genetics and Biophysics
1991-2010
NCCR Chemical Biology - Visualisation and Control of Biological Processes Using Chemistry
2007
École Polytechnique Fédérale de Lausanne
2007
Mario Negri Institute for Pharmacological Research
2005
Istituto di Genetica Molecolare
1974-2001
Telomeres, the DNA-protein complexes located at end of linear eukaryotic chromosomes, are essential for chromosome stability. Until now, telomeres have been considered to be transcriptionally silent. We demonstrate that mammalian transcribed into telomeric repeat–containing RNA (TERRA). TERRA molecules heterogeneous in length, from several subtelomeric loci toward ends, and localize telomeres. also show suppressors with morphogenetic defects genitalia (SMG) proteins, which effectors...
A Horse Is a Horse, of Course The history horse domestication is closely tied to the human society. Wade et al. (p. 865 ) report on sequencing and provide single nucleotide polymorphism map ( Equus caballus genome. Horses are member order perissodactyla (odd-toed animals with hooves). analysis reveals an evolutionarily new centromere equine chromosome 11 that displays properties immature but fully functioning devoid centromeric satellite sequence. findings clarify nature genetic diversity...
Archaeological and genetic evidence concerning the time mode of wild horse ( Equus ferus ) domestication is still debated. High levels diversity in mtDNA have been detected when analyzing control region; recurrent mutations, however, tend to blur structure phylogenetic tree. Here, we brought phylogeny highest level molecular resolution by 83 mitochondrial genomes from modern horses across Asia, Europe, Middle East, Americas. Our data reveal 18 major haplogroups (A–R) with radiation times...
The longstanding dogma that telomeres, the heterochromatic extremities of linear eukaryotic chromosomes, are transcriptionally silent was overturned by discovery DNA-dependent RNA polymerase II (RNAPII) transcribes telomeric DNA into repeat-containing (TERRA). Here, we show CpG dinucleotide-rich islands, shared among multiple human chromosome ends, promote transcription TERRA molecules. promoters sustain cellular expression reporter genes, located immediately upstream start sites, and bound...
Stimulation of human lymphocytes with phytohemagglutinin is known to induce an increase in overall DNA polymerase activity (DNA nucleotidyltransferase; deoxynucleosidetriphosphate:DNA deoxynucleotidyltransferase, EC 2.7.7.7). Previous work [Pedrali Noy, G., Dalprà, L. Pedrini, A. M., Ciarrocchi, Giulotto, E., Nuzzo, F. & Falaschi, (1974) Nucleic Acids Res. 1, 1183] has shown that two subsequent waves induction can be observed this system; a first wave occurs parallel the replication rate;...
In a previous study, we showed that centromere repositioning, is the shift along chromosome of centromeric function without DNA sequence rearrangement, has occurred frequently during evolution genus Equus. this work, analysis chromosomal distribution satellite tandem repeats in Equus caballus, E. asinus, grevyi, and burchelli highlighted two atypical features: 1) several centromeres, including previously described evolutionary new centromeres (ENCs), seem to be devoid DNA, 2) are often...
Mammalian centromeres are associated with highly repetitive DNA (satellite DNA), which has so far hindered molecular analysis of this chromatin domain. Centromeres epigenetically specified, and binding the CENPA protein is their main determinant. In previous work, we described first example a natural satellite-free centromere on Equus caballus Chromosome 11. Here, investigated asinus by using ChIP-seq anti-CENPA antibodies. We identified an extraordinarily high number lacking satellite (16...
Abstract Lysyl hydroxylases catalyze hydroxylation of collagen lysines, and sustain essential roles in extracellular matrix (ECM) maturation remodeling. Malfunctions these enzymes cause severe connective tissue disorders. Human lysyl hydroxylase 3 (LH3/PLOD3) bears multiple enzymatic activities, as it catalyzes lysine also their subsequent glycosylation. Our understanding LH3 functions is currently hampered by lack molecular structure information. Here, we present high resolution crystal...
Abstract Background In vertebrates, tandem arrays of TTAGGG hexamers are present at both telomeres and intrachromosomal sites (interstitial telomeric sequences (ITSs)). We previously showed that, in primates, ITSs were inserted during the repair DNA double-strand breaks proposed that they could arise from either capture fragments or action telomerase. Results An extensive comparative analysis two primate ( Homo sapiens Pan troglodytes ) rodent Mus musculus Rattus norvegicus genomes allowed...
The centromere directs the segregation of chromosomes during mitosis and meiosis. It is a distinct genetic locus whose identity established through epigenetic mechanisms that depend on deposition centromere-specific protein A (CENP-A) nucleosomes. This important chromatin domain has so far escaped comprehensive molecular analysis due to its typical association with highly repetitive satellite DNA. In previous work, we discovered horse chromosome 11 completely devoid DNA; this peculiar...
Short blocks of telomeric-like DNA (Interstitial Telomeric Sequences, ITSs) are found far from chromosome ends. We addressed the question as to how such sequences arise by comparing loci 10 human ITSs with their genomic orthologs in 12 primate species. The did not derive expansion pre-existing TTAGGG units, described for other microsatellites, but appeared suddenly during evolution. Nine insertion events were dated along evolutionary tree, dates ranging between 40 and 6 million years ago....
Syrian hamster cell lines selected in multiple steps for resistance to high levels of N-(phosphonacetyl)-L-aspartate (PALA) contain many copies the gene coding pyrimidine pathway enzyme CAD. Approximately 500 kilobases additional DNA was coamplified with each copy CAD several lines. To investigate its structure and organization, we cloned ca. 162 from line 165-28 68 B5-4, using a screening method based solely on greater abundance amplified sequences resistant cells. Individual fragments were...
Telomeres are ribonucleoprotein structures at the end of chromosomes composed telomeric DNA, specific-binding proteins, and noncoding RNA (TERRA). Despite their importance in preventing chromosome instability, little is known about cross talk between these three elements during formation germ line. Here, we provide evidence that both TERRA telomerase enzymatic subunit (TERT) components telomeres mammalian cells. We found colocalizes with meiosis its expression progressively increases...
The Functional Annotation of Animal Genomes (FAANG) project aims to identify genomic regulatory elements in both sexes across multiple stages development domesticated animals. This study represents the first stage FAANG for horse, Equus caballus. A biobank 80 tissue samples, two cell lines and six body fluids was created from adult Thoroughbred mares. Ante-mortem assessments included full physical examinations, lameness, ophthalmologic neurologic evaluations. Complete blood counts serum...
(T<sub>2</sub>AG<sub>3</sub>) repeats comprise the telomeres of human chromosomes and also are present at interstitial locations. Using a long synthetic (T<sub>2</sub>AG<sub>3</sub>)<sub>n</sub> probe, we have localized telomere-like several internal sites on chromosomes.
Cathelicidins are precursors of defense peptides the innate immunity and widespread in mammals. Their structure comprises a conserved prepropiece an antimicrobial domain that is structurally varied both intra‐ inter‐species. We investigated complexity cathelicidin family horse by reverse transcription‐PCR‐based cloning strategy myeloid mRNA Southern Western analyses. Three novel sequences were deduced from bone marrow designated equine cathelicidins eCATH‐1, eCATH‐2 eCATH‐3. Putative domains...
The concentration of evolutionary breakpoints in primate karyotypes some particular regions or chromosome bands suggests that these are more prone to breakage. This is the first extensive comparative study which investigates a possible relationship two genetic markers (intrachromosomal telomeric sequences [TTAGGG]n, [ITSs] and fragile sites [FSs]), implicated process as well rearrangements. For this purpose, we have analyzed: (a) cytogenetic expression aphidicolin-induced FSs <i>Cebus...