scholarly journals Loss of Chromosome Y and Its Potential Applications as Biomarker in Health and Forensic Sciences

2020 ◽  
Vol 160 (5) ◽  
pp. 225-237
Author(s):  
Bela Barros ◽  
Mariana Morais ◽  
Ana Luísa Teixeira ◽  
Rui Medeiros
Keyword(s):  
Y Chromosome ◽  
Aging Process ◽  
Forensic Sciences ◽  
Male Body ◽  
Laboratory Methods ◽  
Blood Samples ◽  
Chromosome Y ◽  
Potential Applications ◽  
Mosaic Aneuploidy ◽  
Result Interpretation

Loss of chromosome Y (LOY) is a mosaic aneuploidy that can be detected mainly in blood samples of male individuals. Usually, LOY occurrence increases with chronological age in healthy men. Moreover, recently LOY has been reported in association with several diseases, such as cancer, where its frequency is even higher. The Y chromosome is one of the shortest chromosomes of the human karyotype, and it is crucial for correct male development. This chromosome has functions beyond the male reproductive system, and loss of its genes or even LOY can have consequences for the male body that are yet to be elucidated. Analyses of the Y chromosome are largely applied in forensic contexts such as paternity testing, ancestry studies, and sexual assault cases, among others. Thus, LOY can be a disadvantage, limiting laboratory methods and result interpretation. However, as an advantage, LOY detection could be used as a biological age biomarker due to its association with the aging process. The potential application of LOY as biomarker highlights the necessity to clarify the molecular mechanism behind its occurrence and its possible applications in both health and forensic studies.

scholarly journals P11.43 Deletions on Y chromosome are associated with shorter survival in glioblastoma

2019 ◽  
Vol 21 (Supplement_3) ◽  
pp. iii52-iii53
Author(s):  
M Lysiak ◽  
A Malmström ◽  
K R Roodakker ◽  
E Sandberg ◽  
A Dimberg ◽  
...  
Keyword(s):  
Survival Analysis ◽  
Mrna Expression ◽  
Y Chromosome ◽  
Copy Number ◽  
Wild Type ◽  
Blood Samples ◽  
Chromosome Y ◽  
Male Patients ◽  
The Impact ◽  
Fractional Loss

Abstract BACKGROUND Apart from few exceptions, men are more likely to be diagnosed with cancer during their lifetime, including glioblastoma (GBM), but the gender-related differences in GBM are poorly understood. Loss of chromosome Y (LOY) in peripheral blood cells is associated with physiological ageing, but also with disorders like cardiovascular disease, Alzheimer’s disease and different cancer types. In this study, we determined deletions on Y chromosome in tumor tissue of male patients with GBM, and studied the impact of LOY on survival. MATERIAL AND METHODS Ten genes, serving as markers, were selected on both arms of chromosome Y for copy number analysis with droplet digital PCR (ddPCR), enabling detection of loss of a marker in a fraction of the tumor cells used for DNA extraction. A total of 114 tumor samples from male patients were used, derived from a cohort of IDH wild type GBM patients treated with standard radio-chemo therapy. For 61 of these 114 patients, corresponding blood samples were available and analyzed. Different cut-off values were tested for each marker and Kaplan-Meier log-rank analysis was used to estimate overall survival. The mRNA expression for nine of the ten tested genes was available in TCGA, and 225 IDH wild type male GBM were included in a separate survival analysis, where median value of expression was used as group separator. RESULTS Fractional loss, as well as gain of markers was detected. Decreased copy number of the following markers was associated with significantly shorter survival; amelogenin Y-linked (AMELY) (13.5 vs. 19.3 months, p=0.017), neuroligin 4 Y-linked (NLGN4Y) (11.8 vs. 18.9 months, p=0.03) and sex determining region Y (SRY) (10.3 vs. 18.7 months, p=0.002). Additional analysis of SRY in the blood samples verified that copy number alterations were predominantly present in tumors. Survival analysis using mRNA expression data from TCGA showed that reduced expression of SRY was associated with significantly shorter OS (13.8 vs. 19.8 months, p=0.008), but no significant correlation with OS for any of the other markers. CONCLUSION Our data suggests a clonal or at least sporadic occurrence of fractional loss of Y chromosome markers in GBM, as detected with ddPCR. Interestingly, such dosage changes may contribute to shorter survival in men and explain some of the sex disparity seen in GBM. More research is needed to elucidate the molecular mechanisms of LOY and the role of specific Y-linked genes in GBM but also other diseases.

Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias

2018 ◽  
Vol 154 (3) ◽  
pp. 122-125 ◽  
Author(s):  
Mami Miyado ◽  
Koji Muroya ◽  
Momori Katsumi ◽  
Kazuki Saito ◽  
Masafumi Kon ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Cytogenetic Analysis ◽  
Chromosomal Rearrangements ◽  
Related Phenomenon ◽  
Limited Evidence ◽  
Elderly Men ◽  
Chromosome Y ◽  
Chromosomal Genes

Isodicentric Y chromosome [idic(Y)] represents a relatively common subtype of Y chromosomal rearrangements in the germline; however, limited evidence supports the postzygotic occurrence of idic(Y). Here, we report a boy with hypospadias and somatically acquired idic(Y). The 3.5-year-old boy has been identified in our previous study for patients with hypospadias. In the present study, cytogenetic analysis including FISH revealed a 45,X[5]/46,X,idic(Y)[7]/46,XY[8] karyotype. MLPA showed a mosaic deletion involving PPP1R12BP1 and RBMY2DP. The idic(Y) was likely to have been formed through aberrant recombination between P1 palindromes and subsequently underwent mosaic loss. The patient's phenotype was attributable to deletion of some Y chromosomal genes and/or mosaic loss of chromosome Y (mLOY). The results suggest that idic(Y) can originate in postzygotic cells via palindrome-mediated crossovers. Moreover, our data indicate that somatically acquired idic(Y) can trigger mLOY, which usually appears as an aging-related phenomenon in elderly men.

scholarly journals Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

2008 ◽  
Vol 11 (2) ◽  
pp. 51-58
Author(s):  
A Lungeanu ◽  
A Arghir ◽  
S Arps ◽  
G Cardos ◽  
N Dumitriu ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Ambiguous Genitalia ◽  
Peripheral Blood Lymphocytes ◽  
Chromosome Y ◽  
Y Chromosomes ◽  
New Information ◽  
Pathway Perturbation

Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner SyndromeKaryotype investigations using classical cytogenetics, fluorescencein situhybridization (FISH) and polymerase chain reaction (PCR) techniques were used for the characterization of Y chromosome structural anomalies found in two patients with ambiguous genitalia and features of Turner syndrome. Both exhibited mosaic karyotypes of peripheral blood lymphocytes. The karyotype was 45, X[90]/ 46, X, idic(Y)(p11.3).ish idic(Y) (wcpY+, DXYS130++,SRY++,DYZ3++,DYZ1++, DYS224++)[10] in one case, and the karyotype was 45, X[65]/46, X, idic(Y) (q11).ish idic(Y)(SRY++, RP11-140H23-)[35] in the other case. Derivative Y chromosomes were different in shape and size and positive for the SRY gene, a common underlying element of ambiguous genitalia phenotypes. These results add new information concerning the role of Y chromosome structural abnormalities in sex determination pathway perturbation which are poorly understood, and highlight the importance of the sex chromosomes integrity for a normal sex phenotype development.

scholarly journals Optimisation of laboratory methods for whole transcriptomic RNA analyses in human left ventricular biopsies and blood samples of clinical relevance

PLoS ONE ◽  
2019 ◽  
Vol 14 (3) ◽  
pp. e0213685 ◽  
Author(s):  
Kerrie L. Ford ◽  
Maryam Anwar ◽  
Rachael Heys ◽  
Eltayeb Mohamed Ahmed ◽  
Massimo Caputo ◽  
...  
Keyword(s):  
Clinical Relevance ◽  
Left Ventricular ◽  
Laboratory Methods ◽  
Blood Samples

scholarly journals FISH Analysis of All Fetal Nucleated Cells in Maternal Whole Blood: Improved Specificity by the Use of Two Y-chromosome Probes

2005 ◽  
Vol 53 (3) ◽  
pp. 319-322 ◽  
Author(s):  
Susanne Mergenthaler ◽  
Tatiana Babochkina ◽  
Vivian Kiefer ◽  
Olaf Lapaire ◽  
Wolfgang Holzgreve ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Y Chromosome ◽  
Blood Cells ◽  
Maternal Blood ◽  
Fish Analysis ◽  
Blood Samples ◽  
Fetal Cells ◽  
Nucleated Red Blood Cells ◽  
Noninvasive Prenatal Diagnosis

Current cytogenetic approaches in noninvasive prenatal diagnosis focus on fetal nucleated red blood cells in maternal blood. This practice may be too restrictive because a vast proportion of other fetal cells is ignored. Recent studies have indicated that fetal cells can be directly detected, without prior enrichment, in maternal blood samples by fluorescence in situ hybridization (FISH) analysis for chromosomes X and Y (XY-FISH). In our blinded analysis of 40 maternal blood samples, we therefore examined all fetal cells without any enrichment. Initial examinations using conventional XY-FISH indicated a low specificity of 69.4%, which could be improved to 89.5% by the use of two different Y-chromosome-specific probes (YY-FISH) with only a slight concomitant decrease in sensitivity (52.4% vs 42.9%). On average, 12–20 male fetal cells/ml of maternal blood were identified by XY- and YY-FISH, respectively.

Variability of Euchromatic and Heterochromatic Regions of Y Chromosome in Two Types of Cancer Patients

1989 ◽  
Vol 75 (6) ◽  
pp. 547-549 ◽  
Author(s):  
Siddharth G. Adhvaryu ◽  
Bhavana J. Dave ◽  
Amit H. Trivedi ◽  
Urwashi M. Rawal ◽  
Kalyani H. Jani
Keyword(s):  
Head And Neck Cancer ◽  
Head And Neck ◽  
Cancer Patients ◽  
Y Chromosome ◽  
Neck Cancer ◽  
Heterochromatic Region ◽  
Similar Data ◽  
Euchromatic Region ◽  
Chromosome Y ◽  
Healthy Men

Heteromorphism of Y chromosome was studied in head and neck cancer patients and leukemia patients. The results were compared with similar data obtained for healthy men. It was observed that, compared to the controls, mean lengths of Y chromosome were nonsignificantly higher for leukemia patients and lower for head and neck cancer patients. The euchromatic region of Y chromosome (Y-eu) remained comparable in the controls and the leukemia patients, whereas it was smaller in patients with head and neck malignancies. The heterochromatic region (Y-het) was more or less analogous in controls and head and neck cancer patients, however, it was significantly larger in patients with leukemia (P < 0.02).

scholarly journals Profiling of Chromosomal Complement in Nandidurga Goats of Karnataka

2021 ◽  
Author(s):  
Basavraj Inamdar ◽  
R. Nagaraja ◽  
H.M. Yathish ◽  
S. Naveen Kumar ◽  
G.S. Naveen Kumar ◽  
...  
Keyword(s):  
Chromosome Number ◽  
Y Chromosome ◽  
X Chromosome ◽  
Relative Length ◽  
Lymphocyte Culture ◽  
Short Term ◽  
Blood Samples ◽  
Chromosomal Complement ◽  
Morphological Index ◽  
The Mean

Background: To characterize the chromosomal complement of Nandidurga goats. Methods: Blood samples for short term lymphocyte culture were collected from 5 bucks and 5 does from its breeding tract and then mitotic chromosomal spreads were accomplished. Result: The diploid chromosome number was found to be 60, consisting of 58 acrocentric autosomes and 2 sex chromosomes (X and Y). The X chromosome was found to be the longest acrocentric and Y chromosome was found to be sub metacentric. The mean mitotic drive was 64.5±2.01 and 63.15±1.30 percent in bucks and does, respectively. The mean relative length of autosomes varied from 2.08±0.24 to 4.81±0.12 in does and 2.09±0.09 to 4.70±0.11in bucks. The relative length of X chromosome in does was 5.14±0.17 and that in bucks was 4.92±0.21, whereas Y chromosome had a relative length of 1.99±0.20. The mean Arms Ratio, Centromeric Index and Morphological Index were 2.47, 31.62 and 396.14, respectively. This cytogenetic analysis indicates the normal chromosomal complement in the studied Nandidurga goats.

scholarly journals UV-Blocking, Transparent, and Antioxidant Polycyanoacrylate Films

Polymers ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2011
Author(s):  
Ana Isabel Quilez-Molina ◽  
Lara Marini ◽  
Athanassia Athanassiou ◽  
Ilker S. Bayer
Keyword(s):  
Caffeic Acid ◽  
Barrier Properties ◽  
Food Preservation ◽  
Forensic Sciences ◽  
Transparent Films ◽  
Safety Regulations ◽  
Fatty Food ◽  
Potential Applications ◽  
Poly Propylene ◽  
New Applications

Applications of cyanoacrylate monomers are generally limited to adhesives/glues (instant or superglues) and forensic sciences. They tend to polymerize rapidly into rigid structures when exposed to trace amounts of moisture. Transforming cyanoacrylate monomers into transparent polymeric films or coatings can open up several new applications, as they are biocompatible, biodegradable and have surgical uses. Like other acrylics, cyanoacrylate polymers are glassy and rigid. To circumvent this, we prepared transparent cyanoacrylate films by solvent casting from a readily biodegrade solvent, cyclopentanone. To improve the ductility of the films, poly(propylene carbonate) (PPC) biopolymer was used as an additive (maximum 5 wt.%) while maintaining transparency. Additionally, ductile films were functionalized with caffeic acid (maximum 2 wt.%), with no loss of transparency while establishing highly effective double functionality, i.e., antioxidant effect and effective UV-absorbing capability. Less than 25 mg antioxidant caffeic acid release per gram film was achieved within a 24-h period, conforming to food safety regulations. Within 2 h, films achieved 100% radical inhibition levels. Films displayed zero UVC (100–280 nm) and UVB (280–315 nm), and ~15% UVA (315–400 nm) radiation transmittance comparable to advanced sunscreen materials containing ZnO nanoparticles or quantum dots. Transparent films also exhibited promising water vapor and oxygen barrier properties, outperforming low-density polyethylene (LPDE) films. Several potential applications can be envisioned such as films for fatty food preservation, biofilms for sun screening, and biomedical films for free-radical inhibition.

The Role of Genetic Mutations in Y Chromosome Infertility Syndrome

2020 ◽  
pp. 1-6
Author(s):  
Shahin Asadi
Keyword(s):  
Y Chromosome ◽  
Sperm Cell ◽  
Sex Chromosome ◽  
Genetic Disorder ◽  
Genetic Material ◽  
Genetic Mutations ◽  
Sperm Cells ◽  
Sperm Production ◽  
Chromosome Y

Sex chromosome Y infertility is a genetic disorder that affects sperm production and causes affected men to become infertile. Most men with Y chromosome infertility syndrome have some sperm cells in their urine that can be extracted for this purpose. As the name implies, this type of infertility is caused by changes in the Y sex chromosome. Infertility of the Y sex chromosome is usually caused by the removal of genetic material in areas of the Y chromosome called Azosperm Factor (AZF) A, B or C. Keywords: Azosperm Factor; Oligospermia, Sperm Cell: Sex chromosome Y infertility

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