RESULTS FROM 1 TO 20 OF 243

2023, Articolo in rivista, ENG

Characterization of Robertsonian and Reciprocal Translocations in Cattle through NGS

Alessandra Iannuzzi, Ramona Pistucci, Angela Perucatti, Michele Zannotti, Leopoldo Iannuzzi, Pietro Parma

This study presents a novel approach that combines next-generation sequencing (NGS) and cytogenetic technologies for identifying chromosomes involved in chromosomal anomalies. This research focuses on a chromosome anomaly discovered in male Alpine Grey cattle, as well as two previously reported cases of reciprocal translocations (rcps), namely rcp(9;11) and rcp(4;7). Abnormal chromosomes from Alpine Grey cattle were microdissected from conventional preparations, and the amplified products were sequenced using NGS. The sequencing reads were then mapped to the reference genome, and the leverage effect was calculated to identify abnormal reads/Mb values. The result revealed the presence of rob(26;29), which was further confirmed through traditional cytogenetic analyses such as Giemsa staining, CBA-banding, RBA-banding, and FISH techniques. Furthermore, the feasibility of this approach on preserved metaphases was demonstrated through analysis of old slides from previously characterized cases. The study highlights the challenges involved in identifying and characterizing chromosomal aberrations in bovine species and offers a potential solution for analyzing historical anomalies when fresh blood material is unavailable. The combination of NGS and cytogenetic techniques provides a cost-effective and reliable approach for characterizing chromosomal anomalies in various species, including those identified before the availability of modern banding technologies and FISH mapping using specific molecular markers.

Animals (Basel) 13 (26)

DOI: 10.3390/ani13193018

2023, Articolo in rivista, ENG

Genetic screening between Italian and Romanian water buffalo

Cristina Rossetti, Viviana Genualdo, Angela Perucatti, Domenico Incarnato and Ioana Nicolae

The investigation of genetic differentiation of subspecies and breeds is nowadays fundamental for understanding their adaptation to specific environments and for facilitating selection processes for production purposes. These aspects allow us both to safeguard their biodiversity and to protect the products with a high nutritional value that derive from them and to which consumers today pay particular importance. In this study, a genomic approach by RAPD-PCR and DNA-barcoding was used to identify possible genetic markers to discriminate Italian Mediterranean Buffalo (IMB) and Romanian Buffalo (RB). The two molecular tools have been widely used in this study not only to clarify genetic differences between breeds but also to avoid food frauds, given the great importance of Italian buffalo mozzarella recognized all over the world and protected by Denomination of Protected Origin (DPO). The research did not reveal any difference between the two breeds, despite belonging to two geographically different areas.

Journal of Applied Animal Research 51 (1), pp. 540–545

DOI: 10.1080/09712119.2023.2237618

2022, Articolo in rivista, ENG

Comparative Fluorescence In Situ Hybridization (FISH) Mapping of Twenty-Three Endogenous Jaagsiekte Sheep Retrovirus (enJSRVs) in Sheep ( Ovis aries) and River Buffalo ( Bubalus bubalis) Chromosomes

Angela Perucatti, Alessandra Iannuzzi, Alessia Armezzani, Massimo Palmarini, Leopoldo Iannuzzi

Endogenous retroviruses (ERVs) are the remnants of ancient infections of host germline cells, thus representing key tools to study host and viral evolution. Homologous ERV sequences often map at the same genomic locus of different species, indicating that retroviral integration occurred in the genomes of the common ancestors of those species. The genome of domestic sheep (Ovis aries) harbors at least twenty-seven copies of ERVs related to the exogenous and pathogenic Jaagsiekte sheep retrovirus (JSRVs), thus referred to as enJSRVs. Some of these loci are unequally distributed between breeds and individuals of the host species due to polymorphic insertions, thereby representing invaluable tools to trace the evolutionary dynamics of virus populations within their hosts. In this study, we extend the cytogenetic physical maps of sheep and river buffalo by performing fluorescent in situ hybridization (FISH) mapping of twenty-three genetically characterized enJSRVs. Additionally, we report the first comparative FISH mapping of enJSRVs in domestic sheep (2n = 54) and river buffalo (Bubalus bubalis, 2n = 50). Finally, we demonstrate that enJSRV loci are conserved in the homologous chromosomes and chromosome bands of both species. Altogether, our results support the hypothesis that enJSRVs were present in the genomes of both species before they differentiated within the Bovidae family.

Animals (Basel) 12 (20)

DOI: 10.3390/ani12202834

2022, Articolo in rivista, ENG

Oocyte aneuploidy rates in river and swamp buffalo types (Bubalus bubalis) determined by Multi-color Fluorescence In Situ Hybridization (M-FISH)

Alfredo Pauciullo, Carmine Versace, Angela Perucatti, Giustino Gaspa, Ling-Yu Li, Chun-Yan Yang, Hai-Ying Zheng, Qinyou Liu, Jiang-Hua Shang

Aneuploidy is one of the main causes of fetal and embryonic mortality in mammals. Nonetheless, its incidence in domestic ruminants has been investigated little. Indeed, no incidence data have ever been reported for water buffalo. To establish the incidence of aneuploidy in this species, we analysed in vitro matured metaphase II (MII) oocytes with corresponding first polar bodies (I PB) of the river (2n = 50) and swamp (2n = 48) buffaloes. For the first time, six river type probes (corresponding to chromosomes 1-5 and heterosome X), were tested on swamp buffalo metaphases using Multicolor-Fluorescent In Situ Hybridization (M-FISH) before their use on oocytes MII metaphases. Of the 120 total Cumulus Oocyte Complexes (COCs, 60 for each buffalo type) subjected to in vitro maturation, 104 reached the MII stage and were analysed by M-FISH. Haploid chromosome arrangement and visible I PB were observed in 89 of the oocytes (45 in river and 44 in swamp type). In the river type, the analysis revealed one oocyte was disomic for the chromosome X (2.22%). In the swamp type, one oocyte was found to be nullisomic for chromosome X (2.27%); another was found to be nullisomic for chromosome 5 (2.27%). We also observed one oocyte affected by a premature separation of sister chromatids (PSSC) on the chromosome X (2.27%). In both buffalo types, no abnormalities were detected in other investigated chromosomes. Based on merged data, the overall aneuploidy rate for the species was 3.37%. Oocytes with unreduced chromosomes averaged 1.92% across the two types, with 1.96% in river and 1.88% in swamp. The interspecies comparison between these data and cattle and pig published data revealed substantial difference in both total aneuploidy and diploidy rates. Reducing the negative impact of the meiotic segregation errors on the fertility is key to more sustainable breeding, an efficient embryo transfer industry and ex-situ bio-conservation. In this respect, additional M-FISH studies are needed on oocytes of domestic species using larger sets of probes and/or applying next generation sequencing technologies.

Scientific reports (Nature Publishing Group) 12 (1)

DOI: 10.1038/s41598-022-12603-9

2022, Articolo in rivista, ENG

State of the art on the physical mapping of the Y-chromosome in the Bovidae and comparison with other species

Rossetti Cristina, Genualdo Viviana, Incarnato Domenico, Mottola Filomena, Perucatti Angela, Pauciullo Alfredo

The next generation sequencing (NGS) has significantly contributed to clarify the genome structure of many species of zootechnical interest. However, to date, some portions of the genome, especially those linked to a heterogametic nature such as the Y chromosome, are difficult to assemble and many gaps are still present. It is well known that the fluorescence in situ hybridization (FISH) is an excellent tool for identifying genes unequivocably mapped on chromosomes. Therefore, FISH can contribute to the localization of unplaced genome sequences, as well as to correct assembly errors generated by comparative bioinformatics. To this end, it is necessary to have starting points; therefore, in this study, we reviewed the physically mapped genes on the Y chromosome of cattle, buffalo, sheep, goats, pigs, horses and alpacas. A total of 208 loci were currently mapped by FISH. 89 were located in the male-specific region of the Y chromosome (MSY) and 119 were identified in the pseudoautosomal region (PAR). The loci reported in MSY and PAR were respectively: 18 and 25 in BTA, 5 and 7 in BBU, 5 and 24 in OAR, 5 and 19 in CHI, 10 and 16 in SSC, 46 and 18 in ECA. While in VPA only 10 loci are reported in the PAR region. The correct knowledge and assembly of all genome sequences, including those of genes mapped on the Y chromosome, will help to elucidate their biological processes, as well as to discover and exploit potentially epistasis effects useful for selection breeding programs.

Animal Bioscience (Print)

DOI: 10.5713/ab.21.0480

2021, Articolo in rivista, ENG

Genetic investigation for the characterization of three indigenous pig breeds of southern Italy: advantages and prospects

Cristina Rossetti, Angela Perucatti, Filomena Mottola, Domenico Incarnato, Viviana Genualdo

The characterization and safeguarding of typical and local animal breeds were the focus of this study. These two aspects are crucial for their management, in particular for the Italian pig population. Indeed, Italy is among the top ten nations in terms of the pig population, with the local breeds famous worldwide for their great meat production. In this study we characterized three of these local pig breeds of Italy, i.e. Nero Siciliano (Black Sicily, BS), Casertana (C) and Nero Lucano (Black Lucano, BL), using cytogenetic and genomic techniques. These three local pig breeds of Italy were characterized by Aneuploidies, CAs (Chromosome Aberration) and SCEs (Sister Chromatid Exchange) and RAPD-PCR (Random Amplified Polymorphic DNA - Polymerase Chain Reaction) in order to clarify any genetic differences between the breeds to preserve biodiversity and to guarantee economic development of local pork industries. Comparing the data obtained from the analysis of Aneuploidies, CAs and SCEs, as well as the RAPD-PCR examination, it was concluded that the BS and C breeds are more similar and sufficiently different from the BL breed. The genetic diversity and the characteristic polymorphic profile make BL a breed of high value to be protected, particularly for its much appreciated meat. The research was carried out as a preliminary phase for the development program for local breeds and will provide useful information for the management, conservation and promotion of these three Italian pig breeds.

Animal Science Papers and Reports 39 (2), pp. 141–150

2020, Articolo in rivista, ENG

Analysis of Meiotic Segregation by Triple-Color Fish on Both Total and Motile Sperm Fractions in a t(1p;18) River Buffalo Bull

Chiara Di Dio, Valentina Longobardi, Gianluigi Zullo, Pietro Parma, Alfredo Pauciullo, Angela Perucatti, James Higgins, Alessandra Iannuzzi

Chromosomal aberrations are relatively frequent pathologies in both humans and animals. Among them, translocations present a specific meiotic segregation pattern able to give a higher percentage of unbalanced gametes that can induce fertility problems. In this study, the meiotic segregation patterns of 1p, 1q and 18 Bubalus bubalis chromosomes were analyzed in both total sperm fraction and motile sperm fraction of a t(1p;18) carrier and a control bulls by triple-color FISH analysis with a pool of specific BAC probes. The frequencies of each total sperm fraction products in the carrier resulting from alternate, adjacent I, adjacent II and 3:1 segregation were 39%, 20%, 1% and 38%, respectively. On the other hand, the frequencies of each motile sperm fraction products in the carrier resulting from alternate, adjacent I, adjacent II and 3:1 segregation were 93%, 5%, 0% and 2%, respectively. The frequencies of normal sperms in the carrier were 27% and 69% in total sperm fraction and motile sperm fraction, respectively. The frequencies detected in motile sperm fraction were also validated by comparison with bull's progeny. To our knowledge, this is the first report on the meiotic segregation patterns in motile sperm fractions of B. bubalis bull carrying a chromosomal translocation. These data suggest that translocation has a very limited effect on aneuploidy in the gametes, and therefore, on the reproductive abilities of the bull.

PloS one 15 (5)

DOI: 10.1371/journal.pone.0232592

2020, Articolo in rivista, ENG

A De Novo Reciprocal Chromosomal Translocation t(3;6)(p14;q26) in the Black Lucano Pig

Viviana Genualdo, Cristina Rossetti, Alfredo Pauciullo, Musilova Petra, Domenico Incarnato, Angela Perucatti

In the past two decades, several cytogenetic screening programs identified different chromosome rearrangements in pig, most of which represented by reciprocal translocation (rcp). This chromosome abnormality does not involve the variation in the number of chromosomes, but only the rearrangement of genetic material, resulting in phenotypically normal carriers with fertility problems. During an occasional cytogenetic screening, a new reciprocal translocation was detected in the black Lucano pig native breed. We analysed 15 animals reared by a family-run piggery in Basilicata region (Southern Italy). After karyotyping, four pigs (two boars and two sows) revealed two unpaired chromosomes. Analysis of the RBA karyotype and the dual colour FISH technique confirmed that these pigs showed the same reciprocal translocation involving the chromosomes SSC3 and SSC6. The precise location of breakpoints were identified by RBH-FISH t(3;6)(p14;q26), whereas the analysis of the pedigree showed a case of Mendelian inheritance within a family, after the de novo occurrence of the new rcp. Considering the consequences of the rcp on the fertility, this study points out the importance of the cytogenetic screening in the native breeds for the safeguard of the genetic biodiversity and the sustainability of the rural areas.

Reproduction in domestic animals (1990) 1 (6), pp. 677–682

DOI: 10.1111/rda.13664

2020, Articolo in rivista, ENG

Clinical, Cytogenetic and Molecular Genetic Characterization of a Tandem Fusion Translocation in a Male Holstein Cattle With Congenital Hypospadias and a Ventricular Septal Defect

Alessandra Iannuzzi, Marina Braun, Viviana Genualdo, Angela Perucatti, Sina Reinartz, Ioannis Proios, Maike Heppelmann, Jürgen Rehage, Kirsten Hülskötter, Andreas Beineke, Julia Metzger, Ottmar Distl

Hypospadias, disorder of sex development (DSD), is a sporadic congenital abnormality of the genital region in male ruminants, which is characterized by a non-fused urethra during fetal development. Detailed clinical examination classified the hypospadias phenotype of a male Holstein calf studied here as the perineal type. In combined use of cytogenetic analysis and whole genome sequencing, a non-mosaic, pseudo-monosomy 59, XY + tan(18;27) was detected. This chromosomal aberration had its origin in a tandem fusion translocation of the bovine autosomes (BTA) 18 and 27 with an accompanying loss of genomic sequences mainly in the distal end of BTA 18 and the proximal end of BTA 27. The resulting phenotype included hypospadias, growth retardation and ventricular septal defect.

PloS one 15 (1)

DOI: 10.1371/journal.pone.0227117

2019, Contributo in atti di convegno, ENG

Cytogenetic and genomic assays in river buffalo (Bubalus bubalis, 2n=50) cows raised in urban and rural areas

Iannuzzi, Alessandra; Genualdo, Viviana; Perucatti, Angela; Rossetti, Cristina; Incarnato, Domenico; Caputi-Jambrenghi, Anna; Colonna, M. A.; Giannico, Francesco; Iannuzzi, Leopoldo

The exposition to exogenous agents can lead to a variety of modifications on DNA, resulting in genome alterations. Aim of this study is to verify the differences between long- and short-term DNA damage in river buffalo lymphocytes by the following test: CA (chromosome and chromatid breaks), Sister Chromatid Exchanges(SCEs) and Cytokinesis-Block Micronucleus (CBMN) for long-term DNA damage test, and the relative Telomeres Length (TL), by Monochrome Multiplex Quantitative PCR (MMQPCR) method, for shortterm DNA damage. Two group of buffaloes (20 animals per group,homogeneous for age, sex and feeding), raised in urban (group A) and rural (group B, as control) were studied. Results. Mean values of CA/cell were 0.07±0.30 and 0.07±0.27 in groups A and B, respectively; SCE-mean values were 8.95±3.86 and 9.18±4.34, in the A and B-groups, respectively. For CBMC test, the Binucleated Cell Indexes (BCI) were 76.70±7.32 and 74.89±6.32 in the A- and B-groups, respectively. Mean values of the Bi-Nucleated cells with MN (BNMN) and MN for cell Bi-Nucleated they were 1.52±1.87 and 1.76±2.07 in the A- and B-groups, respectively. The TL values (expressed as telomere length relative to a single copy reference gene) were 1.35±0.92 and 1.44±1.21 in A and B-groups, respectively. No statistical differences were found between the two groups for each test. Conclusions. All four test gave equivalent results and the two different environments do not originate differenced in chromosome stability in buffalo lymphocytes.

12th European Cytogenomics Conference 2019, Salzburg, Austria., 6-9 July 2019Molecular cytogenetics 12, pp. 16–16

2018, Abstract in atti di convegno, ENG

Genomic analysis on river buffalo (Bubalus bubalis Linnaeus, 1758, 2n=50) reared in different conditions: short- and long-term effects on DNA

Iannuzzi, Alessandra; Perucatti, Angela; Genualdo, Viviana; Rossetti, Cristina; Incarnato, Domenico; Iorio, Ciro; Andreassi, Maria Grazia; Iannuzzi, Leopoldo

DNA damage is the most important factor that induces genome instability and the exposure to exogenous agents (UV light, oxidative stress, chemical mutagens, and radiation) can lead to a variety of modifications of DNA constituents, resulting in genome alterations. The aim of this study is to verify the differences between long-term and short-term DNA damage by different genomic tests: Aberration Chromosomes (CA), Sister Chromatid Exchanges (SCEs) and Cytokinesis-Block Micronucleus (CBMN) for long-term DNA damage and the relative Telomere Lenght (TL), by Monochrome Multiplex Quantitative PCR (MMQPCR) method, for short-term DNA damage. We selected two groups of buffaloes (five for each homogeneous group for age and sex) raised in different environments: urban (group A) and extraurban (group B). For CA test, we counted 100 cells for a sample with mean values of CA/cell of 0.06±0.26 (A) and 0.05±0.21 (B); for the SCE test, we elaborated 35 cells per sample with SCE-mean values being 9.06±3.73 and 9.02±3.92, in the A and B-groups, respectively. For CBMC test, we counted 500 cells for a sample: mean values of Nuclear Division Index (NDI) was 2.04±0.11 and 1.89±0.04 in the A and B- groups, while the Binucleated Cell Indexes (BCI) were 77.0±7.58 and 75.6±5.41 in the A- and Bgroups, respectively. Mean values of the Bi-Nucleated cells with MN (BNMN) and MN for cell Bi-Nucleated they were 1.40±1.52 and 1.80±2.05 in the A- and B-groups, respectively. The TL value (expressed as telomere length relative to a single copy reference gene) was 0.98±0.57 (A) and 1.24±1.07 (B). For each test no statistical differences were found between the two groups, but it is necessary to study a larger number of animals to validate the results in a better way.

23 rd International Colloquium on Animal Cytogenetics and Genomics (23 ICACG), Saint-Petersburg, Russia, June 9-12, 2018Comparative cytogenetics (Print) 12, pp. 334–335

2018, Abstract in atti di convegno, ENG

Upgrade sperm FISH analysis of meiotic segregation in a river buffalo bull carrier a rob(1p;18)

Iannuzzi, Alessandra; Di Dio, Chiara; Perucatti, Angela; Jambrenghi, Anna Caputi; Giannico, Francesco; Pauciullo, Alfredo; Parma, Pietro; Iannuzzi, Leopoldo

An upgrade by triple-colour fluorescence in situ hybridization (FISH) in River Buffalo sperms was performed on chromosomes involved in the translocation (BBU1 and BBU18) using three different pools of specific bovine BAC (INRA library) probes, mapping in BBU1q, BBU1p and BBU18 (homologous to BTA1, BTA27 and BTA18, respectively). The meiotic segregation pattern was examined in the carrier and in the control counting 2.500 total sperms and 2.500 total motile sperms on both animals. The results revealed different frequencies of normal and chromosomally balanced sperms (alternate group) as follows: 24.1% and 11.4% (total of 35.5%) of total sperms in the carrier, while in the control there were 97.1% and 0.4% (total of 97.8%) respectively; 58.4% and 22.2% (total of 80.6%) of motile sperms in the carrier, while in the control there were 93.6% and 3.3% (total of 96.1%) respectively. These data have shown the increase of percentage in alternate group of motile sperms fraction that represents the real sperm population able to fertilize an oocyte. This result revealed a connection between sperm motility and DNA distribution, underling the importance of Sperm-FISH analysis in reproducers.

23 rd International Colloquium on Animal Cytogenetics and Genomics (23 ICACG), Saint-Petersburg, Russia, June 9-12, 2018Comparative cytogenetics (Print) 12, pp. 314–314

2018, Articolo in rivista, ENG

Cytogenetic investigation in two endangered pig breeds raised in Southern-Italy: clinical and environmental aspects

Viviana Genualdo, Angela Perucatti, Donata Marletta, Bianca Castiglioni, Salvatore Bordonaro, Marco Iannaccone, Francesca Ciotola, Vincenzo Peretti, Alessandra Iannuzzi

Representative groups of animals of two endangered local pig breeds (Casertana and Nero Siciliano,both with black skin and raised in Southern-Italy) were cytogenetically investigated and compared to check for the presence of chromosomal abnormalities and to test their chromosome stability by Sister Chromatid Exchange (SCE) test, in their normal breeding conditions. Forty-two Casertana pigs (22 males and 20 females, raised in 3 farms) and 39 Nero Siciliano pigs (19 males and 20 female, raised in 3 farms) were investigated. All animals showed normal CBA- and RBA-banded karyotypes (2n=38), except for two Nero Siciliano boars (both from the same farm) which showed US 2n=37 being heterozygous carrier of rob(15;17). The translocation was confirmed by FISH-mapping with specific BAC-clones. Both animals were probably hybrids from crosses with the wild pig (2n=36) present in the Nebrodi mountains where Nero Siciliano is reared with extensive or semi-extensive systems. SCE-test applied on all studied animals revealed no statistical differences between the SCE-mean number of Casertana (7.13±3.20) and Nero Siciliano (6.87±3.12) breeds. Statistical differences were found between SCEs mean values of males (7.26±3.38) and females (6.59±2.90) of Nero Siciliano breed, as well as between females of Casertana (7.24±3.26) and Nero Siciliano (6.59±2.90) breeds, while no statistical differences were found between SCE mean values of males of Casertana (6.98±3.10) and Nero Siciliano (6.45±2.97) breeds, as well as between males and females of Casertana breed.

Livestock science (Print) 216, pp. 36–43

DOI: 10.1016/j.livsci.2018.07.005

2018, Articolo in rivista, ENG

Effect of short-term water restriction on oxidative and inflammatory status of sheep (Ovis aries) reared in Southern Italy

D'Ambrosio C.; Sarubbi F.; Scaloni A.; Rossetti C.; Grazioli G.; Auriemma G.; Perucatti A.; Spagnuolo M.S.

Water restriction (WR) may impair productive and reproductive performances in livestock. Our major aim was to assess physiological changes associated with a short-term WR in sheep reared in Southern Italy, in order to develop novel methods for evaluating/monitoring the biological implications of such environmental stress. Control animals received water ad libitum (24 h/day) throughout the experimental period. Treated animals were exposed to progressive water restriction (WR) (days 0-4: 12-6 h/day; days 4-8: 3 h/day), followed by a re-adaptation phase (days 9-10). Plasma concentrations of nitro-tyrosine (N-Tyr) and carbonyl (PC) derivatives were measured as markers of protein oxidation. Lipid hydroperoxides (LPOs) were titrated as index of lipid oxidation. Haptoglobin (Hpt) and cortisol were titrated as markers of systemic inflammation and endocrine stress, respectively. Polypeptide profiling of serum samples was performed by MALDI-TOF-MS analysis. Plasma N-Tyr concentration was higher in WR group at day 8 and 10, and significantly increased from day 4-8. Both PC and LPOs levels were higher in WR animals at each time point, and increased until day 8. The concentration of the inflammatory marker Hpt was higher in WR at day 4 and 8, and progressively increased until day 8. MALDI-TOF-MS ascertained decreased levels of apolipoprotein A-II (ApoA-II) and increased levels of platelet factor 4 (PF4) in WR animals at day 8. Taking into consideration the limitations due to the involvement of these redox status and inflammatory biomarkers in other stressing events, these results suggest that N-Tyr concentration might contribute to assess whether a condition of severe WR is occurring, while PC and LPOs may be used for identifying WR animals, and for evaluating the extent of deprivation. The concentration of Hpt, PF4 and ApoA-II might be used in combination for identifying dehydrated animals, and for monitoring the restoring of homeostasis.

Small ruminant research 162, pp. 77–84

DOI: 10.1016/j.smallrumres.2018.03.008

2018, Articolo in rivista, ENG

Cytogenetic tests reveal no toxicity in lymphocytes of rabbit (Oryctolagus cuniculus, 2n=44) feed in presence of verbascoside and/or lycopene

Angela Perucatti, Viviana Genualdo, Alfredo Pauciullo, Ciro Iorio, Domenico Incarnato, Cristina Rossetti, Francesco Vizzarri, Marisa Palazzo, Donato Casamassima, Leopoldo Iannuzzi, Alessandra Iannuzzi

Phenylpropanoid glycosides (PPG), like other phenolic compounds, are a powerful antioxidants and the Verbascoside (VB) is one of the most active of them. A previous study, by using in vitro exposure of blood human lymphocytes to Verbascoside, reported a significant increasings of chromosome fragility compared to control. In the present study, four homogeneous groups of rabbits were used to test in vivo the VB and/or Lycopene (LP) by feeding the animals without VB and LP (control), in presence of VB or/and LP for 80 days. Lymphocyte cell cultures were performed in three different times: 0, 40 and 80 days of the experiment and the cytogenetic tests that we used [CA-test (Chromosome Abnormalities in terms of chromosome and chromatid breaks) and Sister Chromatid Exchange (SCE-test)] have revealed no mutagenic effects on chromosomes. Indeed, mean values/cell of CA and SCE decreased during the experiment with some difference among and within groups, with significant decreasing value only for some group. The study shows clear evidence that diets rich in Verbascoside (and/or Lycopene) do not originate any mutagenic activity, resulting no cytotoxic for the animals and, suggesting a possible their use in both animal and human diets.

Food and chemical toxicology 114, pp. 311–315

DOI: 10.1016/j.fct.2018.02.053

2017, Articolo in rivista, ENG

Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects

Dino Cancemi, Alessandra Iannuzzi, Angela Perucatti, Luigi Montano, Oronzo Capozzi, Carmine Spampanato, Maria Luisa Ventruto, Maria Urciuoli, Leopoldo Iannuzzi,Valerio Ventruto

Duplications of Yq arm (and AZF) seems to be tolerated by fertile males, while mutations, deletions, duplications or haploinsufficiency of SHOX can originate a wide range of phenotypes, including short stature and skeletal abnormalities. We report a case of non-obstructive azoospermia in a young man with short stature, skeletal anomalies, normal intelligence and hormonal parameters. This male showed a very singular Y-chromosome aberration, consisting of a duplication of Yq and proximal regions of Yp, with a deletion of almost all PAR1 in Yptel, including SHOX. CBA- and RBA-banding and FISH-mapping with telomeric, centromeric, AZF and SHOX probes were used. These results were confirmed by array CGH, which revealed the following karyotype constitution: arr [hg19] Xp22.33 or Yp11.32p11.31 (310,932-2,646,815 or 260,932-2,596,815) ×1, Yp11.2q12 (8,641,183-59,335,913) ×2. We conclude that the haploinsufficience of SHOX may be the cause of short stature and skeletal defects in the patient, while the non-obstructive azoospermia could be related to the lack of X-Y pairing during meiosis originated by the anomalous configuration of this chromosome abnormality and large deletion which occurred in Yp-PAR1.

Journal of Applied Genetics 58 (4), pp. 481–486

DOI: 10.1007/s13353-017-0412-7

2017, Articolo in rivista, ENG

Antioxidant and anti-inflammatory effects of cauliflower leaf powder-enriched diet against LPS induced toxicity in rabbits.

Larocca, Marilena; Perna, Anna Maria; Simonetti, Amalia; Gambacorta, Emilio; Iannuzzi, Alessandra; Perucatti, Angela; Rossano, Rocco

Brassica phytochemicals exert a broad spectrum of health-promoting activities. The aim of this study was to investigate the possible beneficial effects of a cauliflower leaf powder (CLP)-enriched diet to prevent inflammation and oxidative stress resulting from injection of lipopolysaccharide (LPS) into rabbits. Animals (24 rabbits) were randomly divided into two groups and fed with a standard diet (SD) or a standard diet supplemented with a 100 g kg-1 diet of CLP. After 60 days, six rabbits of both groups received a LPS injection (100 mug per kg body weight). Serum samples collected after 90 min of LPS injection were assessed for their content of both inflammatory biomarkers such as tumor necrosis factor-alpha (TNF-alpha), interleukin-6 (IL-6) and matrix-metalloproteinases (MMP-2 and MMP-9) and oxidative stress biomarkers such as thiobarbituric acid reactive substances (TBARS), glutathione (GSH), superoxide dismutase (SOD) and catalase (CAT). LPS increased the levels of TNF-alpha, IL-6, and TBARS as well as MMP-2 and MMP-9 activities, whereas it decreased the GSH levels and SOD and CAT activities. In conclusion, preventive supplementation with CLP can protect rabbits from the inflammation and oxidative stress induced by LPS.

Food & function (Online) 8, pp. 3288–3296

DOI: 10.1039/c7fo00253j

2016, Articolo in rivista, ENG

Characterization of a very rare case of living ewe-buck hybrid using classical and molecular cytogenetics.

Pauciullo A, Knorr C, Perucatti A, Iannuzzi A, Iannuzzi L, Erhardt G.

The natural occurrence of live hybrid offsprings between sheep and goats has been documented in literature, however all the studies have reported the mating of goats with rams, whereas the reciprocal cross was never documented. This study reports on a very rare case of interspecies hybridization occurred between a ewe (2n = 54, XX) and a buck (2n = 60, XY). The hybrid, born in a German flock under natural conditions, is characterised by an intermediate karyotype (2n = 57, XX). The CBA-banding has shown 3 metacentric and 54 acrocentric chromosomes, whereas the GTG- and RBA-banding have revealed that the autosomes involved in the hybrid combination were CHI1, 3; CHI2, 8 and CHI5, 11 corresponding to the metacentric chromosomes OAR1, OAR2 and OAR3. A tri-colour FISH using chromosome paintings and BAC probes has validated this arrangement. A further FISH analysis has been carried out to analyse the telomeres, which showed a normal structure. Nucleolus organiser-bearing chromosomes were identified as pairs OAR1p(CHI3), OAR2q(CHI2), OAR3q(CHI5), OAR4(CHI4) and OAR25(CHI28), and nuclear associations were found. Sex chromosomes were correctly arranged. The odd number of the karyotype might be responsible for a reduced fertility as consequence of the incorrect chromosomal pairing and/or segregation during the meiosis.

Scientific reports (Nature Publishing Group) 6

DOI: 10.1038/srep34781

2016, Abstract in rivista, ENG

A multidisciplinary investigation of water restriction effects in sheep (Ovis aries)

M.S Spagnuolo, F Sarubbi, C Rossetti, C D'Ambrosio, G Auriemma, G Grazioli, A Perucatti, A Scaloni,L Iannuzzi

Chromosome research, pp. s17–s18

2016, Abstract in rivista, ENG

Karyotyping of a sheep-goat hybrid born under natural conditions

A Pauciullo, C Knorr, A Perucatti, A Stölzl, A. Iannuzzi, L Iannuzzi, G. Erhardt

Chromosome research 24
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Perucatti Angela

    Drioli Enrico (1623)
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