Article
Andrology
Nemanja Vucic, Nevena Kotarac, Suzana Matijasevic, Lana Radenkovic, Ivan Vukovic, Branko Budimirovic, Mirka Djordjevic, Dusanka Savic-Pavicevic, Goran Brajuskovic
Summary: This study aimed to explore the possible association of CNVs in the AZF region of the Y chromosome with idiopathic male infertility in the Serbian population, finding higher frequency of CNVs in infertile men than fertile controls. Significant differences were observed in partial deletions identified in the AZFc region, but further research on a larger study group is needed to draw more meaningful conclusions about these associations.
Article
Biochemistry & Molecular Biology
Xinyi Guo, Terezie Mandakova, Karolina Trachtova, Baris Ozudogru, Jianquan Liu, Martin A. Lysak
Summary: This study reveals the complex genomic history of the mustard family tribe Biscutelleae, showing contentious relationships within this plant family. Genome evolution in Biscutelleae was influenced by pervasive hybridizations and subsequent genome duplications, leading to a complex pattern of relationships among the genera.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Reproductive Biology
Hayden Holmlund, Yasuhiro Yamauchi, Gerald Durango, Wataru Fujii, Monika A. Ward
Summary: We generated Prssly and Teyorf1 knockout mice using CRISPR/Cas9 technology, and found that these genes are dispensable for male fertility as the knockout mice displayed normal spermatogenic features.
BIOLOGY OF REPRODUCTION
(2022)
Article
Genetics & Heredity
N. De Munck, A. Bayram, I. Elkhatib, A. Linan, A. Arnanz, L. Melado, B. Lawrenz, M. H. Fatemi
Summary: The study found that cleavage stage embryos with segmental duplications or monosomies have a significantly decreased chance to reach the blastocyst stage. Segmental duplications and whole chromosome monosomies were found to have a significant effect on developmental arrest, while trisomies and segmental deletions had no effect.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Genetics & Heredity
Masatoshi Nakamoto, Tsubasa Uchino, Eriko Koshimizu, Yudai Kuchiishi, Ryota Sekiguchi, Liu Wang, Ryusuke Sudo, Masato Endo, Yann Guiguen, Manfred Schartl, John H. Postlethwait, Takashi Sakamoto
Summary: The genomic study of ayu reveals its XX/XY sex determination system and the critical role of the male-specific amh-amhr2 pathway in testicular differentiation.
Article
Genetics & Heredity
Nikhil Sahajpal, Catherine Ziats, Alka Chaubey, Barbara R. Dupont, Fatima Abidi, Charles E. Schwartz, Roger E. Stevenson
Summary: Duplication of genes associated with X-linked intellectual disability (XLID) is common but usually involves multiple genes. Whole gene duplications causing the same phenotype as sequence variants or deletions are rare. Phenotypes associated with gene duplications are generally milder than those caused by sequence alterations or deletions. Some clinically significant duplications have been observed to result in significant skewing of X-inactivation in female carriers.
Article
Andrology
Shengyu Xie, Yongyi Ma, Yunqiang Liu, Dachang Tao, Zhaokun Wang, Yuan Yang
Summary: In this study, it was found that the gr/gr duplication on the Y chromosome is a predisposing genetic factor for spermatogenic impairment in Han Chinese males with the O3* haplogroup. The b2/b3 duplication, on the other hand, does not have a significant deleterious effect on spermatogenesis in the C & alpha;2* haplogroup. These findings suggest that differences in Y-chromosome composition may contribute to the discrepancies in the association between AZFc duplication and spermatogenic failure among different populations.
Article
Reproductive Biology
Li Ling, Fangfang Li, Pinglan Yang, Robert D. Oates, Sherman Silber, Cornelia Kurischko, Francis C. Luca, N. Adrian Leu, Jinwen Zhang, Qiuling Yue, Helen Skaletsky, Laura G. Brown, Steve G. Rozen, David C. Page, P. Jeremy Wang, Ke Zheng
Summary: A missense mutation in the TAF7L gene has been identified as a potential cause of oligozoospermia in men. Complementation experiments in yeast and analysis of transcriptomic profiles in mutant testes provide evidence supporting the role of TAF7L mutation as a risk factor for male infertility.
BIOLOGY OF REPRODUCTION
(2022)
Article
Reproductive Biology
Kinjal Gajjar, Alpesh Patel, B. Patel, Shiva Chettiar, Devendrasinh Jhala
Summary: To assess the proportion of chromosomal abnormalities in RPL, aCGH was used, which showed higher detection rate and accuracy compared to traditional cytogenetic analysis. Among 300 samples, 100 abnormal samples were identified by karyotype or FISH analysis. aCGH revealed 74 samples with CNVs, 2 samples with variants of unknown clinical significance, and 121 samples with no change in CNVs. The most frequent CNVs were loss of chromosome regions at 2q33.1, 7q11.21, 15q11.1, 16p11.2, Xp22.33, and Yp11.32.
REPRODUCTION AND FERTILITY
(2023)
Article
Transplantation
Andrea Domingo-Gallego, Marc Pybus, Gemma Bullich, Monica Furlano, Laia Ejarque-Vila, Laura Lorente-Grandoso, Patricia Ruiz, Gloria Fraga, Mercedes Lopez Gonzalez, Juan Alberto Pinero-Fernandez, Lidia Rodriguez-Pena, Isabel Llano-Rivas, Raquel Saez, Anna Bujons-Tur, Gema Ariceta, Guirado Lluis, Roser Torra, Elisabet Ars
Summary: Genetic testing of 460 patients with early-onset CKD showed a global diagnostic yield of 65%, with cystic kidney diseases and tubulopathies having higher diagnostic rates. Seven genes accounted for the majority of genetically diagnosed patients.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2022)
Review
Obstetrics & Gynecology
Brendan J. Houston, Antoni Riera-Escamilla, Margot J. Wyrwoll, Albert Salas-Huetos, Miguel J. Xavier, Liina Nagirnaja, Corinna Friedrich, Don F. Conrad, Kenneth Aston, Csilla Krausz, Frank Tuttelmann, Moira K. O'Bryan, Joris A. Veltman, Manon S. Oud
Summary: Research has shown a significant genetic component in male infertility, particularly monogenic causes. The field had been slow in adopting next-generation sequencing technologies and lacked clear statements on validated causes of human male infertility. Through clinical validity assessment, 120 genes were identified to be moderately, strongly or definitively linked to 104 infertility phenotypes.
HUMAN REPRODUCTION UPDATE
(2022)
Article
Urology & Nephrology
Judy Savige, Beata S. Lipska-Zietkiewicz, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierzynska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter
Summary: Genetic testing for pathogenic COL4A3?5 variants is crucial for investigating persistent hematuria and suspected inherited kidney diseases. Even in cases where a heterozygous pathogenic COL4A3 or COL4A4 is suspected, experts recommend genetic testing and cascade testing of family members to reduce the risk of kidney dysfunction. Testing for variants in the COL4A3?5 genes is also recommended for other kidney conditions such as proteinuria, steroid-resistant nephrotic syndrome, IgA glomerulonephritis, and kidney failure of unknown cause.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Multidisciplinary Sciences
M. S. Oud, R. M. Smits, H. E. Smith, F. K. Mastrorosa, G. S. Holt, B. J. Houston, P. F. de Vries, B. K. S. Alobaidi, L. E. Batty, H. Ismail, J. Greenwood, H. Sheth, A. Mikulasova, G. D. N. Astuti, C. Gilissen, K. McEleny, H. Turner, J. Coxhead, S. Cockell, D. D. M. Braat, K. Fleischer, K. W. M. D'Hauwers, E. Schaafsma, L. Nagirnaja, D. F. Conrad, C. Friedrich, S. Kliesch, K. I. Aston, A. Riera-Escamilla, C. Krausz, C. Gonzaga-Jauregui, M. Santibanez-Koref, D. J. Elliott, L. E. L. M. Vissers, F. Tuettelmann, M. K. O'Bryan, L. Ramos, M. J. Xavier, G. W. van der Heijden, J. A. Veltman
Summary: This study examines the role of de novo mutations in severe male infertility. Through trio-based exome sequencing, the researchers identified a significant enrichment of loss-of-function de novo mutations in infertile men. They also identified a new candidate gene, RBM5, which is associated with male infertility. This study provides evidence for the importance of de novo mutations in male infertility and identifies potential genetic causes.
NATURE COMMUNICATIONS
(2022)
Editorial Material
Andrology
Rafael Oliva, Csilla Krausz, Ewa Rajpert-De Meyts
Article
Endocrinology & Metabolism
S. Marchiani, S. Dabizzi, S. Degl'Innocenti, M. G. Fino, M. G. Torcia, D. Paoli, F. Lombardo, N. Ciccone, S. Pollini, G. M. Rossolini, L. Vignozzi, C. Krausz, E. Baldi
Summary: European semen banks have implemented various measures to handle semen samples during the COVID-19 pandemic, but most centers did not adopt particularly drastic safety protocols. Nasopharyngeal swab testing is recommended to better manage couples undergoing assisted reproductive technology and to protect personnel.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2022)
Article
Endocrinology & Metabolism
A. Ferlin, A. E. Calogero, C. Krausz, F. Lombardo, D. Paoli, R. Rago, C. Scarica, M. Simoni, C. Foresta, V Rochira, E. Sbardella, S. Francavilla, G. Corona
Summary: This article presents guidelines for the diagnosis, treatment, and management of male factor infertility, highlighting the importance of a couple-oriented approach and assessing risk factors.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2022)
Article
Biochemistry & Molecular Biology
Francesco Pallotti, Giulia Senofonte, Fani Konstantinidou, Silvia Di Chiano, Fabiana Faja, Flavio Rizzo, Francesco Cargnelutti, Csilla Krausz, Donatella Paoli, Andrea Lenzi, Liborio Stuppia, Valentina Gatta, Francesco Lombardo
Summary: Virilization of AFAB individuals through testosterone therapy can result in phenotypic changes, although inter-individual differences in timing and acquisition of characteristics are commonly observed. The study investigated the relationship between CpG methylation profiles of ESR2 and H19 promoters and their influence on phenotypic modifications in AFAB individuals undergoing testosterone therapy. Results showed a significant increase in methylation of the ESR2 promoter but not the H19 promoter after 6 and 12 months of treatment. Epigenetic changes appeared to be regulated and associated with patient age and testosterone levels. The study suggests that epigenetic regulation may play a role in phenotypical changes after testosterone treatment.
Article
Andrology
Emmanuele A. Jannini, Csilla Krausz
Article
Andrology
Eberhard Nieschlag, Gianni Forti, Frederick Wu, Jorma Toppari, Csilla Krausz
Article
Andrology
Rafael Oliva, Csilla Krausz, Ewa Rajpert-De Meyts
Article
Multidisciplinary Sciences
Liina Nagirnaja, Alexandra M. Lopes, Wu-Lin Charng, Brian Miller, Rytis Stakaitis, Ieva Golubickaite, Alexandra Stendahl, Tianpengcheng Luan, Corinna Friedrich, Eisa Mahyari, Eloise Fadial, Laura Kasak, Katinka Vigh-Conrad, Manon S. Oud, Miguel J. Xavier, Samuel R. Cheers, Emma R. James, Jingtao Guo, Timothy G. Jenkins, Antoni Riera-Escamilla, Alberto Barros, Filipa Carvalho, Susana Fernandes, Joao Goncalves, Christina A. Gurnett, Niels Jorgensen, Davor Jezek, Emily S. Jungheim, Sabine Kliesch, Robert McLachlan, Kenan R. Omurtag, Adrian Pilatz, Jay Sandlow, James Smith, Michael L. Eisenberg, James M. Hotaling, Keith A. Jarvi, Margus Punab, Ewa Rajpert-De Meyts, Douglas T. Carrell, Csilla Krausz, Maris Laan, Moira K. O'Bryan, Peter N. Schlegel, Frank Tuettelmann, Joris A. Veltman, Kristian Almstrup, Kenneth Aston, Donald F. Conrad
Summary: In this study, exome-sequencing was conducted on over 1000 clinically diagnosed NOA cases, and a potential recessive Mendelian cause was identified in 20% of the cases. Integration with single-cell RNA sequencing data revealed different molecular subforms of azoospermia genes, including previously unrecognized subforms. This study highlights the importance of studying NOA as an understudied Mendelian disorder and provides a rational basis for understanding the complex genetics of male infertility.
NATURE COMMUNICATIONS
(2022)
Article
Oncology
Donovan Chan, Kathleen Oros Klein, Antoni Riera-Escamilla, Csilla Krausz, Cristian O'Flaherty, Peter Chan, Bernard Robaire, Jacquetta M. Trasler
Summary: This study aims to determine the impact of HD and TC and their treatments on sperm DNA methylation. The results show that imprinted gene methylation is not affected in sperm before or after treatment. However, sperm epigenetic defects are still evident in some cancer survivors up to 2 years post-treatment.
CLINICAL EPIGENETICS
(2023)
Article
Urology & Nephrology
Margot J. Wyrwoll, Godfried W. van der Heijden, Csilla Krausz, Kenneth I. Aston, Sabine Kliesch, Robert McLachlan, Liliana Ramos, Donald F. Conrad, Moira K. O'Bryan, Joris A. Veltman, Frank Tuettelmann
Summary: Discovering the genetic causes of non-syndromic male infertility and linking them with clinical data is crucial for better understanding the condition. The International Male Infertility Genomics Consortium has developed a standardized vocabulary based on the Human Phenotype Ontology (HPO) to facilitate communication and improve the classification of male infertility. This work will contribute to the systematic recording of patients' phenotypes and the discovery of novel genetic causes for non-syndromic male infertility.
NATURE REVIEWS UROLOGY
(2023)
Review
Andrology
Csilla Krausz, Paulo Navarro-Costa, Martina Wilke, Frank Tuettelmann
Summary: Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is crucial for diagnosing azoospermic and severely oligozoospermic men. This article summarizes recent advances in this field and provides an update on the external quality assessment program offered by the European Academy of Andrology (EAA) and EMQN CIC. The gold-standard method for detecting AZF deletions is a basic multiplex PCR reaction followed by a deletion extension analysis.