A5008170769- Forensic and Genetic Research
- Metabolism and Genetic Disorders
- Metabolomics and Mass Spectrometry Studies
- Genetic diversity and population structure
- Genetic Neurodegenerative Diseases
- Race, Genetics, and Society
- Diet and metabolism studies
- Mitochondrial Function and Pathology
- Genetic Associations and Epidemiology
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomic variations and chromosomal abnormalities
- Alcohol Consumption and Health Effects
- Biochemical effects in animals
- Biochemical Analysis and Sensing Techniques
- Forensic Anthropology and Bioarchaeology Studies
- Yersinia bacterium, plague, ectoparasites research
- Genetic Mapping and Diversity in Plants and Animals
- Neuroscience and Neuropharmacology Research
- Cancer, Hypoxia, and Metabolism
- GABA and Rice Research
- Genetics and Neurodevelopmental Disorders
- Neonatal Health and Biochemistry
- Forensic Toxicology and Drug Analysis
- Blood groups and transfusion
- Genomics and Chromatin Dynamics
University of Rome Tor Vergata
2010-2025
Sapienza University of Rome
2023
San Salvatore Hospital
2023
University of Padua
2001-2022
Bambino Gesù Children's Hospital
2007
University of Geneva
2001
University of Ferrara
2001
University of Calabria
2001
University of Florence
2001
We examined variation on the nonrecombining portion of human Y chromosome to investigate evolution during last 200,000 years. The Y-specific polymorphic sites included Alu insertional polymorphism or “YAP” element (DYS287), poly(A) tail associated with YAP element, three point mutations in close association insertion site, an A-G transition (DYS271), and a tetranucleotide microsatellite (DYS19). Global at five bi-allelic (DYS271, DYS287, mutations) gave rise “YAP haplotypes” 60 populations...
Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to highly heterogeneous neurological phenotype ranging from mild very severe. The nature mutation has so far been reported in patients six families world wide and eight different mutations were described. Here we report mutational spectrum 48 additional unrelated geographic origin. We detected 27 novel at cDNA level, which 26 could be attributed...
SUMMARY Six new Y‐specific probes have been isolated and are reported. Along with another six already described they used in a systematic search for male specific RFLPs. An overall number of 46515 nucleotides screened 12 enzymes no polymorphic pattern observed. Our data reveal greatly reduced level polymorphism compared other chromosomes.
The global pattern of variation at the homologous microsatellite loci DYS413 (Yq11) and DXS8174 DXS8175 (Xp22) was analyzed by examination 30 world populations from four continents, accounting for more than 1,100 chromosomes per locus. data showed discordant patterns among- within-population gene diversity Y-linked X-linked microsatellites. For polymorphism, all groups displayed high FST values (the correlation between random haplotypes within subpopulations, relative to total population) a...
The Mediterranean region has been characterised by a number of pre-historical and historical demographic events whose legacy on the current genetic landscape is still matter debate. In order to investigate degree population structure across Mediterranean, we have investigated Y chromosome variation in large dataset populations, 11 which are first described here. Our analyses identify four main clusters that can be labelled as North Africa, Arab, Central-East West Mediterranean. particular,...
SummaryIn a study of 908 males from Europe, northern Africa, and western Asia, the variation four Y-linked dinucleotide microsatellites was analyzed within three “frames” that are defined by mutations nonrecurrent, or nearly so. The rapid generation extinction new length variants causes haplotypes each lineage to diverge one another. We constructed networks “adjacent” frame, assuming changes single unit. Two small six large were obtained, latter including 94.9% sampled Y chromosomes. show...
Historical sources indicate that the evangelist Luke was born in Syria, died Greece, and then his body transferred to Constantinople, from there Padua, Italy. To understand whether is any biological evidence supporting a Syrian origin of Padua traditionally attributed Luke, or replacement Greece Turkey, mtDNA extracted two teeth its control region cloned typed. The sequence determined multiple clones an uncommon variant set alleles are common Mediterranean region. We also collected typed...
ABSTRACT Mafia firms introduce distortions in the markets which they operate, increasing cost of doing business for peer firms. We investigate whether peers respond by their tax avoidance and thus funds available to compete with Using a sample Italian anti‐Mafia police actions that resulted removal difference‐in‐differences approach, we find reduce following these actions. further show that, actions, improve performance increase capital investment while enjoying reduction raw materials....
Affected members of 73 families with a variety autosomal dominant late onset cerebellar ataxias (ADCAs) were investigated for the trinucleotide (CAG) repeat expansion which is found in pedigrees exhibiting linkage to SCA1 locus on chromosome 6. Most too small analysis. The mutation was only ADCA type I, 19 out 38 such kindreds (50%). It slightly more common Italian (59%) than British (50%) families, and also Malaysian, Bangladeshi Jamaican kindreds. Overall, I patients theexpansion had lower...
Polyphenols have gained increasing attention for their therapeutic potential, particularly in conditions like cancer, due to established antioxidant and anti-inflammatory properties. Recent research highlights ability bind transition metals, such as copper. This is noteworthy given the key role of copper both initiation progression cancer. Copper can modulate activity kinases required epithelial-mesenchymal (EMT), a process fundamental tumor cell dissemination. We previously demonstrated...
We characterized four DNA polymorphisms on the Y chromosomes of 123 males from five Caucasian populations. Three markers male specific portion chromosome varied appreciably in frequency among When combined, these define a limited number haplotypes compared with maximum expected basis random association. The associations found groups are qualitatively similar and thus considered to be relatively stable an evolutionary time-scale possibly predate divergence However, haplotype frequencies...
We typed 1801 males from 55 locations for the Y‐specific binary markers YAP, DYZ3, SRY 10831 and (CA)n microsatellites YCAII DYS413. Phylogenetic relationships of chromosomes with same haplotype were condensed in seven large one‐step networks, which accounted 95% all chromosomes. Their coalescence ages estimated based on microsatellite diversity. The three largest oldest networks undergo sharp frequency changes areas. more recent network 3.1A clearly discriminates between Western Eastern...