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Keywords = mosaic loss of chromosome Y (LOY)

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17 pages, 3016 KiB  
Review
Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men’s Health
by Itzae Adonai Gutiérrez-Hurtado, Astrid Desireé Sánchez-Méndez, Denisse Stephania Becerra-Loaiza, Héctor Rangel-Villalobos, Norma Torres-Carrillo, Martha Patricia Gallegos-Arreola and José Alonso Aguilar-Velázquez
Int. J. Mol. Sci. 2024, 25(8), 4230; https://doi.org/10.3390/ijms25084230 - 11 Apr 2024
Cited by 9 | Viewed by 5994
Abstract
Until a few years ago, it was believed that the gradual mosaic loss of the Y chromosome (mLOY) was a normal age-related process. However, it is now known that mLOY is associated with a wide variety of pathologies in men, such as cardiovascular [...] Read more.
Until a few years ago, it was believed that the gradual mosaic loss of the Y chromosome (mLOY) was a normal age-related process. However, it is now known that mLOY is associated with a wide variety of pathologies in men, such as cardiovascular diseases, neurodegenerative disorders, and many types of cancer. Nevertheless, the mechanisms that generate mLOY in men have not been studied so far. This task is of great importance because it will allow focusing on possible methods of prophylaxis or therapy for diseases associated with mLOY. On the other hand, it would allow better understanding of mLOY as a possible marker for inferring the age of male samples in cases of human identification. Due to the above, in this work, a comprehensive review of the literature was conducted, presenting the most relevant information on the possible molecular mechanisms by which mLOY is generated, as well as its implications for men’s health and its possible use as a marker to infer age. Full article
(This article belongs to the Special Issue Genetic and Molecular Susceptibility in Human Diseases: 2nd Edition)
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19 pages, 3532 KiB  
Article
Tumor Predisposing Post-Zygotic Chromosomal Alterations in Bladder Cancer—Insights from Histologically Normal Urothelium
by Wiktoria Stańkowska, Daniil Sarkisyan, Bożena Bruhn-Olszewska, Katarzyna Duzowska, Michał Bieńkowski, Marcin Jąkalski, Magdalena Wójcik-Zalewska, Hanna Davies, Kinga Drężek-Chyła, Rafał Pęksa, Agnieszka Harazin-Lechowska, Aleksandra Ambicka, Marcin Przewoźnik, Agnieszka Adamczyk, Karol Sasim, Wojciech Makarewicz, Marcin Matuszewski, Wojciech Biernat, Josef D. Järhult, Miklós Lipcsey, Michael Hultström, Robert Frithiof, Janusz Jaszczyński, Janusz Ryś, Giulio Genovese, Arkadiusz Piotrowski, Natalia Filipowicz and Jan P. Dumanskiadd Show full author list remove Hide full author list
Cancers 2024, 16(5), 961; https://doi.org/10.3390/cancers16050961 - 27 Feb 2024
Cited by 4 | Viewed by 2430
Abstract
Bladder urothelial carcinoma (BLCA) is the 10th most common cancer with a low survival rate and strong male bias. We studied the field cancerization in BLCA using multi-sample- and multi-tissue-per-patient protocol for sensitive detection of autosomal post-zygotic chromosomal alterations and loss of chromosome [...] Read more.
Bladder urothelial carcinoma (BLCA) is the 10th most common cancer with a low survival rate and strong male bias. We studied the field cancerization in BLCA using multi-sample- and multi-tissue-per-patient protocol for sensitive detection of autosomal post-zygotic chromosomal alterations and loss of chromosome Y (LOY). We analysed 277 samples of histologically normal urothelium, 145 tumors and 63 blood samples from 52 males and 15 females, using the in-house adapted Mosaic Chromosomal Alterations (MoChA) pipeline. This approach allows identification of the early aberrations in urothelium from BLCA patients. Overall, 45% of patients exhibited at least one alteration in at least one normal urothelium sample. Recurrence analysis resulted in 16 hotspots composed of either gains and copy number neutral loss of heterozygosity (CN-LOH) or deletions and CN-LOH, encompassing well-known and new BLCA cancer driver genes. Conservative assessment of LOY showed 29%, 27% and 18% of LOY-cells in tumors, blood and normal urothelium, respectively. We provide a proof of principle that our approach can characterize the earliest alterations preconditioning normal urothelium to BLCA development. Frequent LOY in blood and urothelium-derived tissues suggest its involvement in BLCA. Full article
(This article belongs to the Section Cancer Biomarkers)
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17 pages, 1695 KiB  
Article
Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer’s Disease Aetiopathogenesis in Men
by Pablo García-González, Itziar de Rojas, Sonia Moreno-Grau, Laura Montrreal, Raquel Puerta, Emilio Alarcón-Martín, Inés Quintela, Adela Orellana, Victor Andrade, Pamela V. Martino Adami, Stefanie Heilmann-Heimbach, Pilar Gomez-Garre, María Teresa Periñán, Ignacio Alvarez, Monica Diez-Fairen, Raul Nuñez Llaves, Claudia Olivé Roig, Guillermo Garcia-Ribas, Manuel Menéndez-González, Carmen Martínez, Miquel Aguilar, Mariateresa Buongiorno, Emilio Franco-Macías, Maria Eugenia Saez, Amanda Cano, Maria J. Bullido, Luis Miguel Real, Eloy Rodríguez-Rodríguez, Jose Luís Royo, Victoria Álvarez, Pau Pastor, Gerard Piñol-Ripoll, Pablo Mir, Miguel Calero Lara, Miguel Medina Padilla, Pascual Sánchez-Juan, Angel Carracedo, Sergi Valero, Isabel Hernandez, Lluis Tàrraga, Alfredo Ramirez, Mercé Boada and Agustín Ruizadd Show full author list remove Hide full author list
Int. J. Mol. Sci. 2023, 24(2), 898; https://doi.org/10.3390/ijms24020898 - 4 Jan 2023
Cited by 17 | Viewed by 6243
Abstract
Mosaic loss of chromosome Y (mLOY) is a common ageing-related somatic event and has been previously associated with Alzheimer’s disease (AD). However, mLOY estimation from genotype microarray data only reflects the mLOY degree of subjects at the moment of DNA sampling. Therefore, mLOY [...] Read more.
Mosaic loss of chromosome Y (mLOY) is a common ageing-related somatic event and has been previously associated with Alzheimer’s disease (AD). However, mLOY estimation from genotype microarray data only reflects the mLOY degree of subjects at the moment of DNA sampling. Therefore, mLOY phenotype associations with AD can be severely age-confounded in the context of genome-wide association studies. Here, we applied Mendelian randomisation to construct an age-independent mLOY polygenic risk score (mloy-PRS) using 114 autosomal variants. The mloy-PRS instrument was associated with an 80% increase in mLOY risk per standard deviation unit (p = 4.22 × 10−20) and was orthogonal with age. We found that a higher genetic risk for mLOY was associated with faster progression to AD in men with mild cognitive impairment (hazard ratio (HR) = 1.23, p = 0.01). Importantly, mloy-PRS had no effect on AD conversion or risk in the female group, suggesting that these associations are caused by the inherent loss of the Y chromosome. Additionally, the blood mLOY phenotype in men was associated with increased cerebrospinal fluid levels of total tau and phosphorylated tau181 in subjects with mild cognitive impairment and dementia. Our results strongly suggest that mLOY is involved in AD pathogenesis. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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