A5086202545- Chromosomal and Genetic Variations
- Genomics and Phylogenetic Studies
- Genomic variations and chromosomal abnormalities
- Primate Behavior and Ecology
- Genomics and Chromatin Dynamics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genome Rearrangement Algorithms
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Genetic diversity and population structure
- CRISPR and Genetic Engineering
- RNA and protein synthesis mechanisms
- Livestock and Poultry Management
- Genetic Mapping and Diversity in Plants and Animals
- Machine Learning in Bioinformatics
- Animal Genetics and Reproduction
- HIV Research and Treatment
- Sarcoma Diagnosis and Treatment
- Mitochondrial Function and Pathology
- Plant Virus Research Studies
- Reproductive Biology and Fertility
- Peptidase Inhibition and Analysis
- Cancer-related molecular mechanisms research
University of Bari Aldo Moro
2011-2022
The genome of the Southeast Asian great ape or orang-utan has been sequenced — specifically a draft assembly Sumatran female individual and short-read sequence data from five further Bornean orang-utan, Pongo abelii pygmaeus, respectively. Orang-utan species appear to have split around 400,000 years ago, more recent than most previous estimates suggested, resulting in an average Bornean–Sumatran nucleotide identity 99.68%. Structural evolution seems proceeded much slowly that other apes,...
Gibbons are small arboreal apes that display an accelerated rate of evolutionary chromosomal rearrangement and occupy a key node in the primate phylogeny between Old World monkeys great apes. Here we present assembly analysis northern white-cheeked gibbon (Nomascus leucogenys) genome. We describe propensity for gibbon-specific retrotransposon (LAVA) to insert into chromosome segregation genes alter transcription by providing premature termination site, suggesting possible molecular mechanism...
We report the whole-genome sequence of common marmoset (Callithrix jacchus). The 2.26-Gb genome a female was assembled using Sanger read data (6×) and shotgun strategy. A first analysis has permitted comparison with genomes apes Old World monkeys identification specific features that might contribute to unique biology this diminutive primate, including genetic changes may influence body size, frequent twinning chimerism. observed positive selection in growth hormone/insulin-like factor genes...
We describe a genome reference of the African green monkey or vervet (Chlorocebus aethiops). This member Old World (OWM) superfamily is uniquely valuable for genetic investigations simian immunodeficiency virus (SIV), which it most abundant natural host species, and wide range health-related phenotypes assessed in Caribbean vervets (C. a. sabaeus), whose numbers have expanded dramatically since Europeans introduced small their ancestors from West Africa during colonial era. use to...
Gibbons (Hylobatidae) shared a common ancestor with the other hominoids only 15-18 million years ago. Nevertheless, gibbons show very distinctive features that include heavily rearranged chromosomes. Previous observations indicate this phenomenon may be linked to attenuated epigenetic repression of transposable elements (TEs) in gibbon species. Here we describe massive expansion repeat almost all centromeres eastern hoolock (Hoolock leuconedys). We discovered is new composite TE originating...
For 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, represent large events easily distinguishable by classical cytogenetics, whose resolution, however, is limited. Here, we performed genome-wide comparison between human, ape, macaque genomes using net alignments for recent releases of genome assemblies. We...
The gibbon karyotype is known to be extensively rearranged when compared the human and ancestral primate karyotype. By combining a bioinformatics (paired-end sequence analysis) approach molecular cytogenetics approach, we have refined synteny block arrangement of white-cheeked ( Nomascus leucogenys , NLE) with respect genome. We provide first detailed clone framework map genome refine location 86 evolutionary breakpoints <1 Mb resolution. An additional 12 breakpoints, mapping primarily...
Abstract Most evolutionary new centromeres (ENC) are composed of large arrays satellite DNA and surrounded by segmental duplications. However, the hypothesis is that ENCs seeded in an anonymous sequence only over time have acquired complexity “normal” centromeres. Up to now evidence test this was lacking. We recently discovered well-known polymorphism orangutan chromosome 12 due presence ENC. sequenced genome homozygous for ENC, we focused our analysis on comparison ENC domain with respect...
In this study we characterized the extension, reciprocal arrangement, and orientation of syntenic chromosomal segments in lar gibbon ( Hylobates , HLA) by hybridization a panel ∼1000 human BAC clones. Each rearrangement was defined splitting clone or two overlapping clones flanking breakpoint. A reconstruction synteny arrangement last common ancestor all living lesser apes made combining these data with previous results Nomascus leucogenys Hoolock hoolock Symphalangus syndactylus . The...
Chromosome rearrangements in small apes are up to 20 times more frequent than most mammals. Because of their complexity, the full extent chromosome evolution these hominoids is not yet fully documented. However, previous work with array painting, BAC-FISH, and selective sequencing two four karyomorphs has shown that high-resolution methods can precisely define breakpoints map complex flow evolutionary rearrangements. Here we use tools have occurred remaining karyomorphs, genera Symphalangus...
Molecular cytogenetics provides a visual, pictorial record of the tree life, and in this respect fusion origin human chromosome 2 is well-known paradigmatic example. Here we report on variant 6 which centromere jumped to 6p22.1. ChIP-chip experiments with antibodies against centromeric proteins CENP-A CENP-C exactly defined neocentromere as lying at chr6:26,407–26,491 kb. We investigated detail evolutionary history primates found that primate ancestor had homologous same marker order, but...
Myxoid Liposarcomas (MLS), characterized by the expression of FUS-CHOP fusion gene are clinically very sensitive to DNA binding antitumor agent, trabectedin. However, resistance eventually occurs, preventing disease eradication. To investigate mechanisms resistance, a trabectedin resistant cell line, 402-91/ET, was developed. The not related MDR proteins, uptake/efflux or GSH levels that were similar in parental and cells. 402-91/ET cells hypersensitive UV light because nucleotide excision...
Cytogenetic studies showed that a number of New World primate taxa, particularly the genera <i>Alouatta</i>, <i>Aotus</i>, and <i>Callicebus</i>, have highly derived karyotypes. Cytogenetics in these primates, at every level analysis, has contributed to recognition species revealed their was certainly underestimated by researchers relying solely on traditional morphological data. Further attention drawn <i>Alouatta</i> <i>Aotus</i>...
Segmental duplications or low copy repeats (LCRs) constitute duplicated regions interspersed in the human genome, currently neglected standard analyses due to their extreme complexity. Recent functional studies have indicated potential of genes within LCRs synaptogenesis, neuronal migration, and neocortical expansion lineage. One with highest proportion sequence is 22q11.2 locus, carrying eight (LCR22-A until LCR22-H), rearrangements between them cause deletion syndrome. The LCR22-A block...
Sex/autosome translocations are rare events. The only known example in catarrhines is the silvered-leaf monkey. Here Y chromosome was reciprocally translocated with 1. rearrangement produced an X
Premature ovarian failure is defined as the cessation of activity before age 40 years. It biochemically characterized by low levels gonadal hormones (estrogens and inhibins) high gonadotropins (luteinizing hormone follicle-stimulating hormone).Our patient, a 22-year-old Caucasian woman under evaluation for infertility, had experienced secondary amenorrhea from 18. No positive family history was noted regarding premature menopause. An examination our patient's karyotype showed presence...