Article
Biology
Maja Tomic, Luka Bolha, Joze Pizem, Helena Ban-Frangez, Eda Vrtacnik-Bokal, Martin Stimpfel
Summary: This study identified 9 miRNAs that could serve as biomarkers for sperm quality in relation to teratozoospermia, highlighting the need for objective markers to personalize the treatment of male infertility.
Article
Andrology
Juan Hua, Lan Guo, Yao Yao, Wen Hu, Yang-Yang Wan, Bo Xu
Summary: Teratozoospermia is a rare disease associated with male infertility. This study found a homozygous mutation in the WDR12 gene to be associated with tapered-head sperm. The mutation caused downregulation of WDR12 expression and was found to be linked to abnormal sperm morphology. Additionally, successful pregnancy was achieved through intracytoplasmic sperm injection (ICSI), suggesting that ICSI can overcome infertility caused by this WDR12 homozygous mutation. These findings provide new insights into the molecular mechanisms of male infertility.
ASIAN JOURNAL OF ANDROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Maria-Anna Kyrgiafini, Themistoklis Giannoulis, Alexia Chatziparasidou, Nikolaos Christoforidis, Zissis Mamuris
Summary: Male infertility is a global health issue with significant genetic factors. This study identified unique mutations in long-noncoding RNAs (lncRNAs) associated with teratozoospermia using whole-genome sequencing and RNA expression analysis. Variants were found to potentially impact lncRNA structure, function, and lncRNA-miRNA interactions. Furthermore, dysregulated pathways in teratozoospermia and a link between male infertility and cancer were discovered.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Obstetrics & Gynecology
Man Liu, Chuan Jiang, Xueguang Zhang, Guohui Zhang, Mohan Liu, Rui Zheng, Yihong Yang, Ying Shen
Summary: This study reported a novel mutation in PRSS55 in an infertile patient, revealing the crucial role of PRSS55 in human fertility for the first time. These findings provide new insights into genetic counseling diagnoses and subsequent treatment for male infertility.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Andrology
Si-Yi Zhao, Lan-Lan Meng, Zhao-Li Du, Yue-Qiu Tan, Wen-Bin He, Xiong Wang
Summary: This study identified a loss-of-function variant in the PNLDC1 gene as the cause of oligo-astheno-teratozoospermia (OAT) in a Chinese Han family. The findings highlight the importance of PNLDC1 gene in male infertility.
ASIAN JOURNAL OF ANDROLOGY
(2023)
Article
Obstetrics & Gynecology
Stefania Lymperi, Eirini Neofytou, Christine Vaitsopoulou, Maria -Georgia Bazioti, Konstantina Kalyvianaki, Katerina Chatzimeletiou, Alexandros Lambropoulos, Theoni B. Tarlatzi, Marilena Kampa, Efstratios M. Kolibianakis, Basil C. Tarlatzis
Summary: This study examined 175 semen samples from Greek men and found that samples with at least one abnormal sperm parameter had significantly lower expression of oxytocin preprotein mRNA (P = 0.019) and higher expression of oxytocin receptor mRNA (P < 0.001) compared to normal samples. Additionally, different categories of semen samples showed varying levels of mRNA expression. These findings suggest that the mRNA expression of oxytocin preprotein and its receptor in spermatozoa could be used as a novel diagnostic tool for male infertility.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Article
Cell Biology
Meimei Zheng, Xu Chen, Yiqiang Cui, Wen Li, Haiqian Dai, Qiuling Yue, Hao Zhang, Ying Zheng, Xuejiang Guo, Hui Zhu
Summary: TULP2, a newly identified RNA-binding protein, plays a crucial role in spermatogenesis by regulating specific transcripts related to cytoskeleton, apoptosis, RNA metabolism, biosynthesis, and energy metabolism. Its loss leads to male sterility by causing defects in sperm differentiation and function. Additionally, TULP2 may be recognized and folded correctly by the CCT complex to exert its function in sperm development.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Obstetrics & Gynecology
Shi-Ya Jiao, Yi-Hong Yang, Su-Ren Chen
Summary: Infertility is a major issue affecting 15% of couples worldwide, with genetic causes accounting for approximately 50% of cases. Research on genetic causes of infertility focuses on identifying and understanding mutations related to infertility.
HUMAN REPRODUCTION UPDATE
(2021)
Article
Multidisciplinary Sciences
Yong Fan, Chenhui Huang, Juan Chen, Yanyan Chen, Yan Wang, Zhiguang Yan, Weina Yu, Haibo Wu, Ying Yang, Leitong Nie, Sijia Huang, Fangfang Wang, Haoyu Wang, Yunfeng Hua, Qifeng Lyu, Yanping Kuang, Ming Lei
Summary: Teratozoospermia, a disorder with genetic heterogeneity, is associated with CCIN gene mutations. The study found that Calicin, encoded by CCIN, plays a crucial role in sperm head shaping and male fertility. Mouse models and human samples confirmed the impact of CCIN mutations on sperm morphology and function. Intracytoplasmic sperm injections (ICSI) were effective in achieving healthy offspring for couples with CCIN variants.
Article
Biochemistry & Molecular Biology
Ling-Yu Yeh, Robert Kuo-Kuang Lee, Ming-Huei Lin, Chih-Hung Huang, Sheng-Hsiang Li
Summary: This study aimed to assess the correlation between sperm miRNA levels and ICSI outcomes. The results showed that miR-34b and miR-34c were significantly associated with ICSI clinical outcomes in male factor infertility, especially teratozoospermia. However, these miRNAs were not associated with fertilization rate and early embryo development, but with implantation, pregnancy, and live birth rates.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Shan Huang, Huiling Wu, Yunwei Qi, Liqiang Wei, Xiaodan Lv, Yu He
Summary: This study identified chromosomal abnormalities, specifically balanced reciprocal translocation and microduplication, in an infertile man and explored their impact on reproductive processes.
FRONTIERS IN GENETICS
(2022)
Article
Cell Biology
Yu-Hua Lin, Ya-Yun Wang, Tsung-Hsuan Lai, Jih-Lung Teng, Chi-Wei Lin, Chih-Chun Ke, I-Shing Yu, Hui-Ling Lee, Chying-Chyuan Chan, Chi-Hua Tung, Donald F. Conrad, Moira K. OBryan, Ying-Hung Lin
Summary: In this study, genetic changes potentially causative of teratozoospermia were identified through whole-exome sequencing. One gene, AGTPBP1, was characterized and its role in human teratozoospermia was established for the first time. Mice models further demonstrated the importance of AGTPBP1 in sperm structure formation.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2023)
Review
Andrology
Shan Huang, Yingting Huang, Shan Li, Yu He
Summary: This study presents two cases of infertile males with teratozoospermia resulting from chromosome 17 translocation. The patients have unique karyotypes that have not been reported previously. Analysis of genes located on breakpoints suggests that interactions involving ALKBH5, TOP3A, and LLGL1 may contribute to abnormal sperm head morphology. Chromosome 17 translocation occurs in conjunction with chromosome 9 and chromosome 11 translocations, leading to oligozoospermia and asthenozoospermia, respectively. The abnormal phenotypes observed in these cases may be related to genes involved in meiosis and sperm motility. The study highlights the importance of investigating genes associated with sperm morphology, as well as the reproductive risks associated with chromosome 17 translocation. For individuals interested in pre-pregnancy screening, preimplantation genetic diagnosis is recommended to minimize the risk of karyotypically unbalanced fetuses and birth defects.
Letter
Genetics & Heredity
Jiaxin He, Qiang Liu, Weili Wang, Lilan Su, Lanlan Meng, Chen Tan, Huan Zhang, Qianjun Zhang, Guangxiu Lu, Juan Du, Ge Lin, Chaofeng Tu, Yue-Qiu Tan
Summary: This study investigated the characteristics of spermatozoa in patients with asthenoteratozoospermia and performed pedigree and Sanger sequencing analysis on the family, revealing the effect of a missense variant in the CCIN gene.
Article
Genetics & Heredity
Xiaoli Wei, Wensheng Liu, Xingshen Zhu, Youzhu Li, Xiaoya Zhang, Jing Chen, Vladimir Isachenko, Yanwei Sha, Zhongxian Lu
Summary: The study identified biallelic mutations in KATNAL2 causing male infertility, particularly in cases of OAT. This finding enriches the spectrum of genetic defects associated with OAT and may improve genetic screening and clinical diagnosis accuracy for the condition.
Article
Genetics & Heredity
S. A. Yatsenko, H. A. Bakos, K. Vitullo, M. Kedrov, A. Kishore, B. J. Jennings, U. Surti, M. A. Wood-Trageser, S. Cercone, A. N. Yatsenko, A. Rajkovic, A. Iannaccone
Article
Urology & Nephrology
Andrew P. Georgiadis, Archana Kishore, Michelle Zorrilla, Thomas M. Jaffe, Joseph S. Sanfilippo, Etta Volk, Aleksandar Rajkovic, Alexander N. Yatsenko
JOURNAL OF UROLOGY
(2015)
Article
Medicine, General & Internal
Alexander N. Yatsenko, Andrew P. Georgiadis, Albrecht Roepke, Andrea J. Berman, Thomas Jaffe, Marta Olszewska, Birgit Westernstroeer, Joseph Sanfilippo, Maciej Kurpisz, Aleksandar Rajkovic, Svetlana A. Yatsenko, Sabine Kliesch, Stefan Schlatt, Frank Tuettelmann
NEW ENGLAND JOURNAL OF MEDICINE
(2015)
Article
Obstetrics & Gynecology
Ewa Wiland, Alexander N. Yatsenko, Archana Kishore, Halina Stanczak, Agata Zdarta, Marcin Ligaj, Marta Olszewska, Jan Karol Wolski, Maciej Kurpisz
REPRODUCTIVE BIOMEDICINE ONLINE
(2015)
Article
Genetics & Heredity
Emir Tas, Jessica Sebastian, Suneeta Madan-Khetarpal, Philip Sweet, Alexander N. Yatsenko, Nijole Pollock, Aleksandar Rajkovic, Francis X. Schneck, Svetlana A. Yatsenko, Selma Feldman Witchel
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2017)
Letter
Genetics & Heredity
A. C. Zielen, M. J. Khan, N. Pollock, H. Jiang, J. Ahmed, R. Nazli, M. Jabeen, A. Yatsenko, A. Rajkovic
Review
Genetics & Heredity
Alexander N. Yatsenko, Paul J. Turek
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2018)
Article
Genetics & Heredity
Xiang Yang, Philippe Touraine, Swapna Desai, Gregory Humphreys, Huaiyang Jiang, Alexander Yatsenko, Aleksandar Rajkovic
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2019)
Article
Multidisciplinary Sciences
Muhammad Jaseem Khan, Nijole Pollock, Huaiyang Jiang, Carlos Castro, Rubina Nazli, Jawad Ahmed, Sulman Basit, Aleksandar Rajkovic, Alexander N. Yatsenko
SCIENTIFIC REPORTS
(2018)
Article
Cell Biology
Varsha Bhargava, Courtney D. Goldstein, Logan Russell, Lin Xu, Murtaza Ahmed, Wei Li, Amanda Casey, Kelly Servage, Rahul Kollipara, Zachary Picciarelli, Ralf Kittler, Alexander Yatsenko, Michelle Carmell, Kim Orth, James F. Amatruda, Judith L. Yanowitz, Michael Buszczak
DEVELOPMENTAL CELL
(2020)
Article
Biochemistry & Molecular Biology
Marta Olszewska, Tomasz Stokowy, Nijole Pollock, Nataliya Huleyuk, Andrew Georgiadis, Svetlana Yatsenko, Danuta Zastavna, Alexander N. Yatsenko, Maciej Kurpisz
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2020)
Article
Genetics & Heredity
Olga Kim, Eun Young Park, David L. Klinkebiel, Svetlana D. Pack, Yong-Hyun Shin, Zied Abdullaev, Robert E. Emerson, Donna M. Coffey, Sun Young Kwon, Chad J. Creighton, Sanghoon Kwon, Edmund C. Chang, Theodore Chiang, Alexander N. Yatsenko, Jeremy Chien, Dong-Joo Cheon, Yang Yang-Hartwich, Harikrishna Nakshatri, Kenneth P. Nephew, Richard R. Behringer, Facundo M. Fernandez, Chi-Heum Cho, Barbara Vanderhyden, Ronny Drapkin, Robert C. Bast, Kathy D. Miller, Adam R. Karpf, Jaeyeon Kim
Article
Genetics & Heredity
Jimmaline J. Hardy, Margot J. Wyrwoll, William Mcfadden, Agnieszka Malcher, Nadja Rotte, Nijole C. Pollock, Sarah Munyoki, Maria V. Veroli, Brendan J. Houston, Miguel J. Xavier, Laura Kasak, Margus Punab, Maris Laan, Sabine Kliesch, Peter Schlegel, Thomas Jaffe, Kathleen Hwang, Josip Vukina, Miguel A. Brieno-Enriquez, Kyle Orwig, Judith Yanowitz, Michael Buszczak, Joris A. Veltman, Manon Oud, Liina Nagirnaja, Marta Olszewska, Moira K. O'Bryan, Donald F. Conrad, Maciej Kurpisz, Frank Tuettelmann, Alexander N. Yatsenko
Summary: Male infertility impacts millions of couples, with the etiology largely unknown. A genomic study on spermatogenic failure identified potentially significant single-nucleotide variants in the GCNA gene. These variants disrupt protein domains critical for genome integrity, potentially causing germ-cell division arrest.
Article
Genetics & Heredity
J. Hardy, N. Pollock, T. Gingrich, P. Sweet, A. Ramesh, J. Kuong, A. Basar, H. Jiang, K. Hwang, J. Vukina, T. Jaffe, M. Olszewska, M. Kurpisz, A. N. Yatsenko
Summary: We identified clinically significant genomic copy number and single nucleotide variants in males with unexplained spermatogenic failure using a combined genome-wide analysis technique. This finding is important for the diagnosis and treatment of complex conditions like male infertility.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Andrology
Agnieszka Malcher, Tomasz Stokowy, Andrea Berman, Marta Olszewska, Piotr Jedrzejczak, Dawid Sielski, Adam Nowakowski, Natalia Rozwadowska, Alexander N. Yatsenko, Maciej K. Kurpisz
Summary: In this study, low-frequency single nucleotide variants (SNVs) associated with spermatogenetic failure in patients with nonobstructive azoospermia (NOA) were identified using whole-genome sequencing (WGS). Novel potential candidate NOA-associated genes were found, and the WGS analysis successfully revealed NOA-associated gene findings in patients who did not have potentially causative variants detected through whole-exome sequencing (WES) analysis.