Article
Genetics & Heredity
Zhou Zhou, Huizhen Fan, Rong Shi, Yang Zeng, Ruyi Liu, Hao Gu, Qiaoli Li, Qing Sang, Lei Wang, Juanzi Shi, Biaobang Chen
Summary: Whole exome sequencing in an affected individual from a consanguineous family revealed a novel variant in the ZFP36L2 gene, which may cause oocyte maturation defect and further broadened the mutational and phenotypic spectrum of ZFP36L2, suggesting that ZFP36L2 could be a genetic diagnostic marker for individuals with oocyte maturation defect.
Article
Biochemistry & Molecular Biology
Alejandro de la Fuente, Charles Scoggin, Etta Bradecamp, Soledad Martin-Pelaez, Machteld van Heule, Mats Troedsson, Peter Daels, Stuart Meyers, Pouya Dini
Summary: This study aimed to elucidate the transcriptome dynamics of oocyte maturation by comparing transcriptomic changes during in vitro maturation in both oocytes and their surrounding cumulus cells. The results showed an association between oocyte maturation and pathways relating to nuclear maturation in oocytes and GTPase activity, extracellular matrix organization, and collagen trimers in cumulus cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Nunzia Limatola, Jong Tai Chun, Kazuyoshi Chiba, Luigia Santella
Summary: Immature starfish oocytes are susceptible to polyspermy but can be activated by one sperm after the resumption of the meiotic cycle. DTT treatment can induce oocyte maturation but impairs the sperm-induced Ca2+ response.
Article
Reproductive Biology
Seon Ah Ryu, Song Baek, Keun Cheon Kim, Eun Song Lee, Seung Tae Lee
Summary: The presence of cumulus cells is not essential for the completion of cytoplasmic maturation in oocytes after nuclear maturation. Removal of cumulus cells from porcine medium antral follicles (MAFs)-derived cumulus-oocyte complexes (COCs) after nuclear maturation results in significant improvements in cytoplasmic maturation and preimplantation development. The cumulus cells do not play a relevant role in cytoplasmic maturation of immature oocytes.
Article
Genetics & Heredity
S. E. Pors, D. Nikiforov, J. Cadenas, Z. Ghezelayagh, Y. Wakimoto, L. A. Z. Jara, J. Cheng, M. Dueholm, K. T. Macklon, E. M. Flachs, L. S. Mamsen, S. G. Kristensen, C. Yding Andersen
Summary: This study aimed to investigate the impact of oocyte diameter and cumulus cell mass on the potential for final maturation of immature human oocytes in vitro. The results showed that the oocyte diameter was positively associated with a higher incidence of MII, and the size of the cumulus cell mass was significantly associated with a larger oocyte diameter and the MII stage.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Irene Peinado, Isabel Moya, Laura Garcia-Valverde, Raquel Frances, Rosana Ribes, Patrocinio Polo, Maria Jose Gomez-Torres, Ana Monzo
Summary: This study explores the impact of in vitro maturation (IVM) medium and vitrification on the survival and development of germinal vesicle (GV) oocytes obtained from stimulated cycles. The results show that a higher percentage of oocytes reach the MII stage if they are vitrified before undergoing IVM. However, the significance of these differences depends on the medium used and sample size. Similar survival rates and development to blastocysts were observed in all conditions studied.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Lin Zhao, Yichun Guan, Qingxia Meng, Weijie Wang, Ling Wu, Biaobang Chen, Jijun Hu, Jiawei Zhu, Zhihua Zhang, Jian Mu, Yao Chen, Yiming Sun, Tianyu Wu, Wenjing Wang, Zhou Zhou, Jie Dong, Yang Zeng, Ruyi Liu, Qiaoli Li, Jing Du, Yanping Kuang, Qing Sang, Lei Wang
Summary: Mutations in the CDC20 gene play a crucial role in oocyte maturation and fertilization, leading to various infertility phenotypes. This study expands the spectrum of known mutations in CDC20 and provides new evidence for its involvement in female infertility characterized by oocyte maturation arrest and fertilization failure.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Obstetrics & Gynecology
Evelyn E. Telfer, Claus Yding Andersen
Summary: The cryopreservation of ovarian tissue is widely used to preserve fertility in high-risk females. Besides transplantation, in vitro maturation of oocytes from ovarian tissue can also be used to restore fertility safely in cases where transplantation is contraindicated.
FERTILITY AND STERILITY
(2021)
Article
Cell Biology
Long Jin, Hai-Ying Zhu, Xiang-Jin Kang, Li-Ping Lin, Pu-Yao Zhang, Tao Tan, Yang Yu, Yong Fan
Summary: Oxybenzone, a common UV filter in sunscreens and cosmetics, has been found to have negative effects on oocyte maturation, but melatonin shows protective effects against these detrimental effects.
Article
Biology
Lingli Huang, Wenqing Li, Xingxing Dai, Shuai Zhao, Bo Xu, Fengsong Wang, Ren-Tao Jin, Lihua Luo, Limin Wu, Xue Jiang, Yu Cheng, Jiaqi Zou, Caoling Xu, Xianhong Tong, Heng-Yu Fan, Han Zhao, Jianqiang Bao
Summary: This study identified and characterized novel biallelic variants in MAD2L1BP responsible for oocyte maturation arrest at MI, providing new therapeutic avenues for female primary infertility.
Review
Biochemistry & Molecular Biology
Yi Luan, Pauline Xu, Seok-Yeong Yu, So-Youn Kim
Summary: The p63 transcription factor is crucial in female reproduction, serving as a genomic guardian in the ovaries and its mutations are increasingly associated with female infertility.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell Biology
Song-Hee Lee, Ming-Hong Sun, Dongjie Zhou, Wen-Jie Jiang, Xiao-Han Li, Geun Heo, Xiang-Shun Cui
Summary: Exposure to high temperature has been found to negatively affect the development of porcine oocytes. It induces mitochondrial dysfunction, ER stress, abnormal Golgi apparatus distribution, and lysosomal damage, leading to the failure of meiotic maturation in the oocytes.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Medicine, Research & Experimental
Weijie Wang, Jing Guo, Juanzi Shi, Qun Li, Biaobang Chen, Zhiqi Pan, Ronggui Qu, Jing Fu, Rong Shi, Xia Xue, Jian Mu, Zhihua Zhang, Tianyu Wu, Wenjing Wang, Lin Zhao, Qiaoli Li, Lin He, Xiaoxi Sun, Qing Sang, Ge Lin, Lei Wang
Summary: PABPC1L gene variants are responsible for female infertility characterized by oocyte maturation arrest. These variants result in truncated proteins, reduced abundance, altered localization, and decreased mRNA translational activation. PABPC1L plays an important role in human oocyte maturation and could be a potential candidate gene for infertility causes.
EMBO MOLECULAR MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Luba Nemerovsky, Hadas Bar-Joseph, Anat Eldar-Boock, Irit Miller, Ido Ben-Ami, Ruth Shalgi
Summary: Molecular changes caused by environmental factors affect oocyte quality and development potential, with oxidative stress playing a major role. Pigment epithelium-derived factor (PEDF) can mitigate the adverse effects of oxidative stress on oocytes, improving maturation rate and preserving mtDNA levels and ATP content.
Article
Genetics & Heredity
Qinli Liu, Yanxia Sun, Lijun Guan, Xinna Chen, Jian Zhou, Ping Liu, Bo Huo
Summary: This study aimed to investigate the changes in oocytes at the transcriptome level after applying continuous microvibrational mechanical stimulation to human immature oocytes during in vitro maturation. The applied 10-Hz continuous microvibrational stimulation altered the expression of 352 genes compared with the static culture. Mechanical stimulation affects the transcriptome during oocyte maturation, causing the express changes in intercellular adhesion and cytoskeleton-related genes.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Genetics & Heredity
Marcello Scala, Nathalie Drouot, Suzanna C. MacLennan, Marja W. Wessels, Magdalena Krygier, Lisa Pavinato, Aida Telegrafi, Stella A. de Man, Marjon van Slegtenhorst, Michele Iacomino, Francesca Madia, Paolo Scudieri, Paolo Uva, Thea Giacomini, Giulia Nobile, Maria Margherita Mancardi, Ganna Balagura, Giovanni Battista Galloni, Alberto Verrotti, Muhammad Umair, Amjad Khan, Jan Liebelt, Miriam Schmidts, Thorsten Langer, Alfredo Brusco, Beata S. Lipska-Zietkiewicz, Jasper J. Saris, Nicolas Charlet-Berguerand, Federico Zara, Pasquale Striano, Amelie Piton
Summary: Alternative splicing plays a crucial role in cell-type-specific gene transcription and NOVA2 gene mutations are associated with neurodevelopmental disorders. This study identified several novel pathogenic variants in NOVA2 and demonstrated their negative impact on alternative splicing events. These findings expand our understanding of NOVA2-related neurodevelopmental disorders.
Review
Genetics & Heredity
Manon Boivin, Nicolas Charlet-Berguerand
Summary: Microsatellites are repeated DNA sequences that play important roles in genome regulation and evolution. Expansions of a subset of microsatellites can cause various human genetic diseases. Some of these diseases are characterized by expansions of similar sequences, sizes, and localizations, and they show similar clinical manifestations and histopathological features, suggesting a common disease mechanism.
FRONTIERS IN GENETICS
(2022)
Article
Obstetrics & Gynecology
Ozlem Okutman, Manon Boivin, Jean Muller, Nicolas Charlet-Berguerand, Stephane Viville
Summary: By analyzing a large Turkish consanguineous family using whole exome sequencing, a homozygous nonsense variant in HORMAD1 was identified in three affected brothers with nonobstructive azoospermia (NOA). This study contributes to the understanding of the genetic causes of male infertility.
HUMAN REPRODUCTION
(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
Health Care Sciences & Services
A. L. Soilly, C. Robert-Viard, C. Besse, A. L. Bruel, B. Gerard, A. Boland, A. Piton, Y. Duffourd, J. Muller, C. Poe, T. Jouan, S. El Doueiri, L. Faivre, D. Bacq-Daian, B. Isidor, D. Genevieve, S. Odent, N. Philip, M. Doco-Fenzy, D. Lacombe, M. L. Asensio, J. F. Deleuze, C. Binquet, C. Thauvin-Robinet, C. Lejeune
Summary: The unit cost per exome sequencing (ES) diagnostic test for intellectual disability (ID) in the French setting was estimated to be 2,019.39 euros. Labor accounted for 50.7% of the total cost, while the analytical step represented 88% of the total cost. Sensitivity analyses showed that a decrease in the prices of the capture kit and sequencing support kit could lower the cost to 1,769 euros per ES diagnostic test for ID.
BMC HEALTH SERVICES RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Adella Karam, Clarisse Delvallee, Alejandro Estrada-Cuzcano, Veronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Genin, Richard Redon, Florian Sandron, Anne Boland, Jean-Francois Deleuze, Nicolas Le May, Helene Dollfus, Jean Muller
Summary: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with genetic heterogeneity. This study focuses on a European BBS5 patient and highlights the importance of whole-genome sequencing (WGS) for accurate variant detection, especially for structural variants. The study confirms the impact of BBS5 protein on patient's cells and ciliary function, emphasizing the need for functional tests to assess variant pathogenicity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Veronique Geoffroy, Jean-Baptiste Lamouche, Thomas Guignard, Samuel Nicaise, Arnaud Kress, Sophie Scheidecker, Antony Le Bechec, Jean Muller
Summary: Much of the human genetics variant repertoire is composed of single nucleotide variants (SNV) and small insertion/deletions (indel) but structural variants (SV) remain a major part of our modified DNA. SV detection has often been a complex question to answer either because of the necessity to use different technologies (array CGH, SNP array, Karyotype, Optical Genome Mapping horizontal ellipsis ) to detect each category of SV or to get an appropriate resolution (Whole Genome Sequencing). The AnnotSV webserver aims at being an efficient tool to annotate and interpret SV potential pathogenicity in the context of human diseases, recognize potential false positive variants from all the SV identified, and visualize the patient variants repertoire. The most recent developments in the AnnotSV webserver include updated annotations sources and ranking, three novel output formats for diverse utilization, and two novel user interfaces including an interactive circos view.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Genetics & Heredity
Jean-Marie Ravel, Mathilde Renaud, Jean Muller, Aurelie Becker, Emeline Renard, Thomas Remen, Genevieve Lefort, Mylene Dexheimer, Philippe Jonveaux, Bruno Leheup, Celine Bonnet, Laetitia Lambert
Summary: This retrospective study reanalyzed 1641 Array-CGH performed between 2010 and 2017 and found that 15.7% of CNVs were initially reported as of uncertain significance. After reinterpretation, 40.9% of patients had changes in CNV classification, and 4.6% had VUS reclassified as likely pathogenic. The study highlights the importance of CNV reinterpretation for genetic counseling.
Article
Obstetrics & Gynecology
Willem Verpoest, Oezlem Okutman, Annelore Van Der Kelen, Karen Sermon, Stephane Viville
Summary: The field of reproductive genetics has made significant advancements through the completion of the Human Genome Project and the development of high-throughput sequencing techniques. This has revolutionized the diagnosis and management of infertility patients, and expanded the scope of care to include family members. The increasing understanding of infertility genes holds promise for improved treatment outcomes.
HUMAN REPRODUCTION
(2023)
Article
Genetics & Heredity
Aurelie Gouronc, Elodie Javey, Anne-Sophie Leuvrey, Elsa Nourisson, Sylvie Friedmann, Valerie Reichert, Nicolas Derive, Christine Francannet, Boris Keren, Jonathan Levy, Marc Planes, Lyse Ruaud, Jeanne Amiel, Helene Dollfus, Sophie Scheidecker, Jean Muller
Summary: Ciliopathies, rare genetic disorders caused by dysfunction of cilia, often inherit autosomal recessively, but exceptions like UPD or de novo variants exist. In this study, 940 individuals with suspected ciliopathy were examined and a high prevalence of UPD and de novo variants was found in a large cohort of ciliopathies, emphasizing the importance of identifying such rare genetic events for genetic counseling.