Article
Biology
Fabiana Faja, Francesco Pallotti, Francesco Cargnelutti, Giulia Senofonte, Tania Carlini, Andrea Lenzi, Francesco Lombardo, Donatella Paoli
Summary: The study showed that DPY19L2 defects are the most common genetic alteration in Italian patients with globozoospermia, while sperm with acrosomal defects may also exhibit high levels of sperm DNA fragmentation.
Article
Biochemistry & Molecular Biology
Guillaume Martinez, Anne-Laure Barbotin, Caroline Cazin, Zeina Wehbe, Angele Boursier, Amir Amiri-Yekta, Abbas Daneshipour, Seyedeh-Hanieh Hosseini, Nathalie Rives, Aurelie Feraille, Nicolas Thierry-Mieg, Marie Bidart, Veronique Satre, Christophe Arnoult, Pierre F. Ray, Zine-Eddine Kherraf, Charles Coutton
Summary: In this study, whole-exome sequencing was used to analyze 167 patients with multiple morphological abnormalities of the sperm flagellum (MMAF). Three unrelated patients were found to have new pathogenic mutations in the DNHD1 gene, which was recently associated with MMAF. Experimental evidence confirmed the deleterious effect of DNHD1 mutations on the structure and function of the sperm flagellum. This study definitively consolidated the involvement of DNHD1 in the MMAF phenotype and expanded the mutational spectrum of the DNHD1 gene.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Hui Yu, Xiao Shi, Zhongmei Shao, Hao Geng, Senzhao Guo, Kuokuo Li, Meng Gu, Chuan Xu, Yang Gao, Qing Tan, Zongliu Duan, Huan Wu, Rong Hua, Rui Guo, Zhaolian Wei, Ping Zhou, Yunxia Cao, Xiaojin He, Liang Li, Xiaoping Zhang, Mingrong Lv
Summary: This study identified mutations in the HYDIN gene associated with asthenoteratozoospermia, and found that ICSI could assist patients with these mutations in achieving pregnancy.
FRONTIERS IN ENDOCRINOLOGY
(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
Biochemistry & Molecular Biology
Caroline Cazin, Yasmine Boumerdassi, Guillaume Martinez, Selima Fourati Ben Mustapha, Marjorie Whitfield, Charles Coutton, Nicolas Thierry-Mieg, Pierre Di Pizio, Nathalie Rives, Christophe Arnoult, Aminata Toure, Pierre F. Ray, Raoudha Zouari, Christophe Sifer, Zine-Eddine Kherraf
Summary: Acephalic spermatozoa syndrome (ASS) is a rare and severe type of teratozoospermia caused by genetic variants in the SUN5 gene, particularly prevalent in the North African population. A specific SUN5 variant, identified in the study, may serve as a useful genetic marker for selecting appropriate treatment options like intra-cytoplasmic sperm injection (ICSI) for affected individuals.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
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)
Article
Biochemistry & Molecular Biology
Laura Castilla-Vallmanya, Semra Gursoy, Ozlem Giray-Bozkaya, Aina Prat-Planas, Gemma Bullich, Leslie Matalonga, Monica Centeno-Pla, Raquel Rabionet, Daniel Grinberg, Susanna Balcells, Roser Urreizti
Summary: This study reports a Turkish family with two affected cousins showing syndromic developmental delay, microcephaly, and trigonocephaly. Whole Exome Sequencing revealed each patient carried a de novo heterozygous variant in a different gene, explaining the major phenotypic alterations in each case.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(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
Andrology
Yoshitaka Fujihara, Kiyonori Kobayashi, Ferheen Abbasi, Tsutomu Endo, Zhifeng Yu, Masahito Ikawa, Martin M. Matzuk
Summary: In this study, Pdcl2 knockout mice were generated to investigate the essential roles of PDCL2 in mammalian reproduction. The findings showed that PDCL2 is crucial for sperm acrosome development and male fertility, suggesting it as a potential contraceptive target in men.
Review
Reproductive Biology
Wenfeng Xiong, Chunling Shen, Zhugang Wang
Summary: Sexual reproduction involves the fusion of two gametes through fertilization, with acrosome reaction playing a crucial role in ensuring successful fertilization. Acrosome, a specialized organelle covering the anterior portion of the sperm head, undergoes a multistep biogenesis process requiring coordination between various organelles and cytoplasmic structures. Research on acrosome formation in gene-manipulated mice has revealed a complex molecular regulatory mechanism involving multiple interacting proteins.
BIOLOGY OF REPRODUCTION
(2021)
Article
Endocrinology & Metabolism
Mingrong Lv, Chunyu Liu, Chunjie Ma, Hui Yu, Zhongmei Shao, Yang Gao, Yiyuan Liu, Huan Wu, Dongdong Tang, Qing Tan, Junqiang Zhang, Kuokuo Li, Chuan Xu, Hao Geng, Jingjing Zhang, Hang Li, Xiaohong Mao, Lei Ge, Feifei Fu, Kaixin Zhong, Yuping Xu, Fangbiao Tao, Ping Zhou, Zhaolian Wei, Xiaojin He, Feng Zhang, Yunxia Cao
Summary: This study reported a Chinese male infertility case with a homozygous SLO3 mutation, which led to severe defects in sperm morphology and motility, as well as impaired acrosome formation, mitochondrial sheath assembly, and K+ channel function. However, the infertility condition was successfully rescued by intracytoplasmic sperm injection.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2022)
Article
Cell Biology
Yanwei Sha, Wensheng Liu, Lin Li, Mario Serafimovski, Vladimir Isachenko, Youzhu Li, Jing Chen, Bangrong Zhao, Yifeng Wang, Xiaoli Wei
Summary: This study identified pathogenic variants in the X-linked gene ACTRT1 in patients with acephalic spermatozoa syndrome, suggesting that mutations in this gene may contribute to the syndrome. Knockout mice of Actrt1 showed a similar phenotype, supporting this hypothesis. The findings provide valuable insights for clinicians and researchers on the genetic etiology and therapeutic strategies for patients with acephalic spermatozoa syndrome.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Developmental Biology
P. Ferrer, S. Upadhyay, M. Ikawa, T. M. Clement
Summary: Formation of the acrosome during spermiogenesis is a key process for creating fertilization-competent sperm, and the adherence of the acrosomal outer membrane to the nuclear surface is mediated by the subacrosomal perinuclear theca. This study investigated the role of ACTL7A in acrosome biogenesis, revealing its dynamic localization and associations with other cytoskeletal components. Knock-out mouse models showed disrupted acrosomal biogenesis and loss of subacrosomal filamentous actin, highlighting the regulatory role of ACTL7A in acroplaxome-associated F-actin, acrosomal attachment integrity, and male fertility.
MOLECULAR HUMAN REPRODUCTION
(2023)
Article
Obstetrics & Gynecology
Olga Lopez-Rodrigo, Lara Bossini-Castillo, F. David Carmona, Lluis Bassas, Sara Larriba
Summary: This study demonstrated the effectiveness of using a genome-wide compound heterozygote analysis strategy to identify rare coding variants in the DPY19L2 gene, which could be a valuable approach for molecular screening in globozoospermia and other rare congenital diseases.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Cell Biology
Shaghayegh Foroozan-Boroojeni, Marziyeh Tavalaee, Zahra Zakeri, Richard A. Lockshin, Mohammad Hossein Nasr-Esfahani
Summary: This study found significantly abnormal sperm parameters and DNA fragmentation in infertile men with globozoospermia compared to fertile individuals, with a higher expression of ATG7 protein in the former group. Furthermore, there was a significant correlation between ATG7 expression and sperm parameters as well as DNA fragmentation.
Article
Oncology
Linda A. J. Hendricks, Nicoline Hoogerbrugge, Arjen R. Mensenkamp, Joan Brunet, Roser Lleuger-Pujol, Hildegunn Hoberg-Vetti, Marianne Tveit Haavind, Giovanni Innella, Daniela Turchetti, Stefan Aretz, Isabel Spier, Marc Tischkowitz, Arne Jahn, Thera P. Links, Maran J. W. Olderode-Berends, Ana Blatnik, Edward M. Leter, D. Gareth Evans, Emma R. Woodward, Verena Steinke-Lange, Violetta C. Anastasiadou, Chrystelle Colas, Marie-Charlotte Villy, Patrick R. Benusiglio, Anna Gerasimenko, Valeria Barili, Maud Branchaud, Claude Houdayer, Bianca Tesi, M. Omer Yazicioglu, Rachel S. van der Post, Janneke H. M. Schuurs-Hoeijmakers, Janet R. Vos, Liselotte P. van Hest, Muriel A. Adank, Floor Duijkers, Maartje Nielsen, Katja C. J. Verbeek, Yvette van Ierland, Jacques C. Giltay
Summary: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare syndrome with a broad phenotypic spectrum, including increased risks of breast, endometrial, and thyroid cancer. This study aimed to provide more accurate and personalized cancer risks. The results showed that PHTS patients, especially females, have a significantly higher risk of breast, endometrial, and thyroid cancer.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Genetics & Heredity
Laurens Wiel, Juliet E. Hampstead, Hanka Venselaar, Lisenka E. L. M. Vissers, Han G. Brunner, Rolph Pfundt, Gerrit Vriend, Joris A. Veltman, Christian Gilissen
Summary: We developed Meta-Domain HotSpot (MDHS) to identify mutation hotspots in protein domains and found three significantly enriched missense DNM hotspots in the ion transport protein domain family. These hotspots are associated with neurodevelopmental disorders and affect multiple genes.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Review
Obstetrics & Gynecology
Annelore Van Der Kelen, Ozlem Okutman, Elodie Javey, Munevver Serdarogullari, Charlotte Janssens, Manjusha S. Ghosh, Bart J. H. Dequeker, Florence Perold, Claire Kastner, Emmanuelle Kieffer, Ingrid Segers, Alexander Gheldof, Frederik J. Hes, Karen Sermon, Willem Verpoest, Stephane Viville
Summary: High-throughput sequencing methods have led to the identification of numerous gene variants in male and female infertility. Evidence-based curation of these genes can improve diagnostic performance and genetic research.
HUMAN REPRODUCTION UPDATE
(2023)
Article
Developmental Biology
Samuel R. Cheers, Anne E. O'Connor, Travis K. Johnson, D. Jo Merriner, Moira K. O'Bryan, Jessica E. M. Dunleavy
Summary: This study reveals the crucial role of spastin, a member of the meiotic AAA ATPase protein clade, in regulating microtubule dynamics during spermatogenesis. Spastin loss leads to a complete loss of functional germ cells, enlarged spermatid nuclei with aneuploidy, and severe abnormalities in manchette structure and acrosome biogenesis. These findings have potential relevance to individuals carrying spastin variants and to the medically assisted reproductive technology industry.
Article
Public, Environmental & Occupational Health
Sarah N. Biggs, Joanne Kennedy, Sharon L. Lewis, Stephen Hearps, Moira K. O'Bryan, Robert McLachlan, Simon von Saldern, Georgina Chambers, Jane Halliday
Summary: Approximately 1 in 20 men are sub-fertile or infertile, but the causes of male infertility are not well understood. This study aims to recruit 1000 Australian male partners seeking help from fertility clinics to investigate the factors associated with male infertility. The findings will provide important information for clinicians and inform public policy on prevention and treatment strategies for infertile men.
REPRODUCTIVE HEALTH
(2023)
Article
Cell Biology
Nicola D. Kolaitis, Bethany J. Finger, D. Jo Merriner, Joseph Nguyen, Brendan J. Houston, Moira K. O'Bryan, Jessica M. Stringer, Nadeen Zerafa, Ngoc Nguyen, Karla J. Hutt, Gerard A. Tarulli, Mark P. Green
Summary: This study found that chronic exposure to an environmentally relevant concentration of the herbicide atrazine affects male fertility in mice, particularly by altering the expression of steroidogenic genes in the testicles. Further research should be conducted to investigate the multigenerational effects of atrazine on male fertility.
Article
Developmental Biology
Jessica E. M. Dunleavy, Maddison Graffeo, Kathryn Wozniak, Anne E. O'Connor, D. Jo Merriner, Joseph Nguyen, Ralf B. Schittenhelm, Brendan J. Houston, Moira K. O'Bryan
Summary: This study reveals that multiple katanin A-subunit paralogs play important roles in various processes during mammalian spermatogenesis, including the construction of the meiotic spindle, cytokinesis, midbody abscission, and spermatid remodelling. The study also identifies specific roles of certain genes in sperm flagellum development and interaction networks with other proteins.
Article
Urology & Nephrology
Sarah Kimmins, Richard A. Anderson, Christopher L. R. Barratt, Hermann M. Behre, Sarah R. Catford, Christopher J. De Jonge, Geraldine Delbes, Michael L. Eisenberg, Nicolas Garrido, Brendan J. Houston, Niels Jorgensen, Csilla Krausz, Ariane Lismer, Robert I. Mclachlan, Suks Minhas, Tim Moss, Allan Pacey, Laerke Priskorn, Stefan Schlatt, Jacquetta Trasler, Leonardo Trasande, Frank Tuettelmann, Monica Hebe Vazquez-Levin, Joris A. Veltman, Feng Zhang, Moira K. O'Bryan
Summary: Currently, there is a lack of understanding and awareness about the causes of male infertility and the importance of male reproductive health. This leads to standardized treatment strategies using medically assisted reproduction techniques, which overlook the potential co-morbidities and shift the burden to women. To improve male reproductive health, it is essential to establish centers for data and sample collection and study the effects of genetics, epigenetics, and environment on fertility and offspring health. Personalized treatment protocols should be developed and education about infertility should be increased.
NATURE REVIEWS UROLOGY
(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)
Article
Biology
Madeleine J. De Jong, Lesley A. Alton, Craig R. White, Moira K. O'Bryan, David G. Chapple, Bob B. M. Wong
Summary: Incubation temperature has lasting effects on growth, locomotor performance, and metabolic rate of skink offspring. Cool and hot incubation temperatures result in faster growth and larger maximum size, while hot incubation temperatures reduce locomotor performance. Effects on metabolic rate are present in sub-adults, with higher rates in cool-incubated lizards. Additionally, cool and hot incubation treatments result in shorter sperm midpieces and heads.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2023)
Article
Chemistry, Multidisciplinary
Farin Yazdan Parast, Avinash S. Gaikwad, Ranganathan Prabhakar, Moira K. O'Bryan, Reza Nosrati
Summary: Using microfluidics, this study investigates individual sperm flagellar dynamics under the influence of flow and viscosity. The findings suggest that viscosity has a more dominant influence on flagellar waveform, and the synergistic effect of flow and viscosity promotes energy-efficient beating behavior.
CELL REPORTS PHYSICAL SCIENCE
(2023)
Article
Pediatrics
Richelle A. C. M. Olde Keizer, Abderrahim Marouane, Wilhelmina Kerstjens-Frederikse, A. Chantal Deden, Klaske Lichtenbelt, Tinneke Jonckers, Marieke Vervoorn, Maaike Vreeburg, Lidewij Henneman, Linda de Vries, Richard Sinke, Rolph Pfundt, Servi J. C. Stevens, Peter Andriessen, Richard van Lingen, Marcel Nelen, Hans Scheffer, Daphne Stemkens, Cor Oosterwijk, Hans Kristian Ploos van Amstel, Willem de Boode, Wendy A. G. van Zelst-Stams, Geert W. J. Frederix, Lisenka E. L. M. Vissers
Summary: The introduction of rapid exome sequencing (rES) has improved clinical decision-making for critically ill neonates. A clinical utility study was conducted comparing rES to routine genetic testing, and the results showed that rES detected more conclusive genetic diagnoses in shorter time and reduced genetic diagnostic costs.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)