Globozoospermia Syndrome: an Update
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Non-Syndromic Monogenic Male Infertility
Acta Biomed 2019; Vol. 90, Supplement 10: 62-67 DOI: 10.23750/abm.v90i10-S.8762 © Mattioli 1885 Review Non-syndromic monogenic male infertility Giulia Guerri1, Tiziana Maniscalchi2, Shila Barati2, Gian Maria Busetto3, Francesco Del Giudice3, Ettore De Berardinis3, Rossella Cannarella4, Aldo Eugenio Calogero4, Matteo Bertelli2 1 MAGI’s Lab, Rovereto (TN), Italy; 2 MAGI Euregio, Bolzano, Italy; 3 Department of Urology, University of Rome La Sapien- za, Policlinico Umberto I, Rome, Italy; 4 Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy Summary. Infertility is a widespread clinical problem affecting 8-12% of couples worldwide. Of these, about 30% are diagnosed with idiopathic infertility since no causative factor is found. Overall 40-50% of cases are due to male reproductive defects. Numerical or structural chromosome abnormalities have long been associ- ated with male infertility. Monogenic mutations have only recently been addressed in the pathogenesis of this condition. Mutations of specific genes involved in meiosis, mitosis or spermiohistogenesis result in spermato- genic failure, leading to the following anomalies: insufficient (oligozoospermia) or no (azoospermia) sperm production, limited progressive and/or total sperm motility (asthenozoospermia), altered sperm morphology (teratozoospermia), or combinations thereof. Androgen insensitivity, causing hormonal and sexual impair- ment in males with normal karyotype, also affects male fertility. The genetic causes of non-syndromic mono- genic of male infertility are summarized in this article and a gene panel is proposed. (www.actabiomedica.it) Key words: male infertility, oligozoospermia, azoospermia, asthenozoospermia, teratozoospermia, spermato- genic failure, androgen insensitivity syndrome Introduction development. Genetic causes of male infertility are outlined in Table 1. -
Program Nr: 1 from the 2004 ASHG Annual Meeting Mutations in A
Program Nr: 1 from the 2004 ASHG Annual Meeting Mutations in a novel member of the chromodomain gene family cause CHARGE syndrome. L.E.L.M. Vissers1, C.M.A. van Ravenswaaij1, R. Admiraal2, J.A. Hurst3, B.B.A. de Vries1, I.M. Janssen1, W.A. van der Vliet1, E.H.L.P.G. Huys1, P.J. de Jong4, B.C.J. Hamel1, E.F.P.M. Schoenmakers1, H.G. Brunner1, A. Geurts van Kessel1, J.A. Veltman1. 1) Dept Human Genetics, UMC Nijmegen, Nijmegen, Netherlands; 2) Dept Otorhinolaryngology, UMC Nijmegen, Nijmegen, Netherlands; 3) Dept Clinical Genetics, The Churchill Hospital, Oxford, United Kingdom; 4) Children's Hospital Oakland Research Institute, BACPAC Resources, Oakland, CA. CHARGE association denotes the non-random occurrence of ocular coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies and deafness (OMIM #214800). Almost all patients with CHARGE association are sporadic and its cause was unknown. We and others hypothesized that CHARGE association is due to a genomic microdeletion or to a mutation in a gene affecting early embryonic development. In this study array- based comparative genomic hybridization (array CGH) was used to screen patients with CHARGE association for submicroscopic DNA copy number alterations. De novo overlapping microdeletions in 8q12 were identified in two patients on a genome-wide 1 Mb resolution BAC array. A 2.3 Mb region of deletion overlap was defined using a tiling resolution chromosome 8 microarray. Sequence analysis of genes residing within this critical region revealed mutations in the CHD7 gene in 10 of the 17 CHARGE patients without microdeletions, including 7 heterozygous stop-codon mutations. -
A Computational Approach for Defining a Signature of Β-Cell Golgi Stress in Diabetes Mellitus
Page 1 of 781 Diabetes A Computational Approach for Defining a Signature of β-Cell Golgi Stress in Diabetes Mellitus Robert N. Bone1,6,7, Olufunmilola Oyebamiji2, Sayali Talware2, Sharmila Selvaraj2, Preethi Krishnan3,6, Farooq Syed1,6,7, Huanmei Wu2, Carmella Evans-Molina 1,3,4,5,6,7,8* Departments of 1Pediatrics, 3Medicine, 4Anatomy, Cell Biology & Physiology, 5Biochemistry & Molecular Biology, the 6Center for Diabetes & Metabolic Diseases, and the 7Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202; 2Department of BioHealth Informatics, Indiana University-Purdue University Indianapolis, Indianapolis, IN, 46202; 8Roudebush VA Medical Center, Indianapolis, IN 46202. *Corresponding Author(s): Carmella Evans-Molina, MD, PhD ([email protected]) Indiana University School of Medicine, 635 Barnhill Drive, MS 2031A, Indianapolis, IN 46202, Telephone: (317) 274-4145, Fax (317) 274-4107 Running Title: Golgi Stress Response in Diabetes Word Count: 4358 Number of Figures: 6 Keywords: Golgi apparatus stress, Islets, β cell, Type 1 diabetes, Type 2 diabetes 1 Diabetes Publish Ahead of Print, published online August 20, 2020 Diabetes Page 2 of 781 ABSTRACT The Golgi apparatus (GA) is an important site of insulin processing and granule maturation, but whether GA organelle dysfunction and GA stress are present in the diabetic β-cell has not been tested. We utilized an informatics-based approach to develop a transcriptional signature of β-cell GA stress using existing RNA sequencing and microarray datasets generated using human islets from donors with diabetes and islets where type 1(T1D) and type 2 diabetes (T2D) had been modeled ex vivo. To narrow our results to GA-specific genes, we applied a filter set of 1,030 genes accepted as GA associated. -
Genetic Counseling and Diagnostic Guidelines for Couples with Infertility And/Or Recurrent Miscarriage
medizinische genetik 2021; 33(1): 3–12 Margot J. Wyrwoll, Sabine Rudnik-Schöneborn, and Frank Tüttelmann* Genetic counseling and diagnostic guidelines for couples with infertility and/or recurrent miscarriage https://doi.org/10.1515/medgen-2021-2051 to both partners prior to undergoing assisted reproduc- Received January 16, 2021; accepted February 11, 2021 tive technology. In couples with recurrent miscarriages, Abstract: Around 10–15 % of all couples are infertile, karyotyping is recommended to detect balanced structural rendering infertility a widespread disease. Male and fe- chromosomal aberrations. male causes contribute equally to infertility, and, de- Keywords: female infertility, male infertility, miscarriages, pending on the defnition, roughly 1 % to 5 % of all genetic counseling, ART couples experience recurrent miscarriages. In German- speaking countries, recommendations for infertile cou- ples and couples with recurrent miscarriages are pub- lished as consensus-based (S2k) Guidelines by the “Ar- Introduction beitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften” (AWMF). This article summarizes the A large proportion of genetic consultation appointments current recommendations with regard to genetic counsel- is attributed to infertile couples and couples with recur- ing and diagnostics. rent miscarriages. Infertility, which is defned by the WHO Prior to genetic counseling, the infertile couple as the inability to achieve a pregnancy after one year of must undergo a gynecological/andrological examination, unprotected intercourse [1], afects 10–15 % of all couples, which includes anamnesis, hormonal profling, physical thus rendering infertility a widespread disease, compara- examination and genital ultrasound. Women should be ex- ble to, e. g., high blood pressure or depression. Histori- amined for the presence of hyperandrogenemia. Men must cally, the female partner has been the focus of diagnos- further undergo a semen analysis. -
Identification of a Novel Deletion Mutation in DPY19L2 from An
Li et al. Molecular Cytogenetics (2020) 13:24 https://doi.org/10.1186/s13039-020-00495-1 CASE REPORT Open Access Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report You-zhu Li1†, Rong-feng Wu1†, Xing-shen Zhu2†, Wen-sheng Liu2, Yuan-yuan Ye1, Zhong-xian Lu2* and Na Li3* Abstract Background: Male infertility is an increasing medical concern worldwide. In most cases, genetic factors are considered as the main cause of the disease. Globozoospermia (MIM102530) (also known as round-headed sperm) is a rare and severe malformed spermatospermia caused by acrosome deficiency or severe malformation. A subset of genetic mutations, such as DNAH6, SPATA16, DPY19L2, PICK1, and CCIN related to globozoospermia, have been reported in the past few years. The DPY19L2 mutation is commonly found in patients with globozoospermia. Herein, a 180-kbp homozygote deletion at 12q14.2 (g.63950001–64130000) was identified by copy number variation sequencing (CNVseq) in a patient with a globozoospermia, including the complete deletion of DPY19L2. Case presentation: A 27-year-old patient at the First Affiliated Hospital of Xiamen University was diagnosed with infertility because, despite normal sexual activity for 4 years, his wife did not conceive. The patient was in good health with no obvious discomfort, no history of adverse chemical exposure, and no vices, such as smoking and drinking. The physical examination revealed normal genital development. However, semen tests showed a normal sperm count of 0% and the morphology was the round head. Sperm cytology showed that acrosomal enzyme was lower than normal. -
Genetics of Male Infertility: Genes Implicated in Non-Obstructive
Genetics of male infertility : genes implicated in non-obstructive azoospermia and severe oligozoospermia Özlem Okutman To cite this version: Özlem Okutman. Genetics of male infertility : genes implicated in non-obstructive azoospermia and severe oligozoospermia. Reproductive Biology. Université de Strasbourg, 2015. English. NNT : 2015STRAJ049. tel-01372898 HAL Id: tel-01372898 https://tel.archives-ouvertes.fr/tel-01372898 Submitted on 27 Sep 2016 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. THESIS P`VsVJ VR G77 Ö<CVI OKTMAN DV`VJRVR Q``1H1:CC7 SV] VIGV` . IJ P:` 1:C F%C`1CCIVJ Q` .V RV_%1`VIVJ s `Q` .V DV$`VV Q` DQH Q` Q` P.1CQsQ].7 1J SH1VJHVs ``QI .V J10V`s1 7 Q` S `:sGQ%`$ D1sH1]C1JV7 L1`V SH1VJHV :JR HV:C . S]VH1:C1 77 CVCC%C:` B1QCQ$7 :JR DV0VCQ]IVJ GVJV 1Hs Q` I:CV 1J`V` 1C1 7 GVJVs 1I]C1H: VR 1J JQJRQGs `%H 10V :<QQs]V`I1: :JR sV0V`V QC1$Q<QQs]V`I1: T.Vs1s R1`VH Q`7 P`8 S X].:JV IILLE J10V`s1 7 Q` S `:sGQ%`$ R IGBMC5 S `:sGQ%`$5 F`:JHV E6 V`J:C RV]Q` V`s7 P`8 JV:J P1V``V SIFFROI T]1 :C'R;*J`:J -'.`I:JR'1`Q%--V:%5'6:`1-5'7`:JHV P`8 CCXIVJ JIMENE LVs HT]1 :%6 R% CH5 BQ`RV:%65 F`:JHV IJ V`J:C RV]Q` V`s7 P`8 J:IVC CHELL IGBMC5 S `:sGQ%`$5 F`:JHV T.V 1I]Q` :J .1J$ 1s JQ Q s Q] _%Vs 1QJ1J$8 C%`1Qs1 7 .:s 1 s Q1J `V:sQJ `Q` V61s 1J$8 ACGV` E1Js V1J R AH@JQ1CVR$VIVJ s I 11s. -
A New AURKC Mutation Causing Macrozoospermia
A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis Mariem Ben Khelifa 1 2 3 , Raoudha Zouari 4 , Radu Harbuz 2 1 , Lazhar Halouani 4 , Christophe Arnoult 1 , Joël Lunardi 2 5 , Pierre F. Ray 1 2 * 1 AGIM, AGeing and IMagery, CNRS FRE3405 Université Joseph Fourier - Grenoble I , Ecole Pratique des Hautes Etudes , CNRS : UMR5525 , Faculté de médecine de Grenoble, 38700 La Tronche,FR 2 Laboratoire de biochimie et génétique moléculaire CHU Grenoble , 38043 Grenoble,FR 3 Molecular Investigation of Genetic Orphan Diseases Research Unit Institut Pasteur de Tunis , Research Unit UR04/SP03,TN 4 Clinique de la reproduction les Jasmins Clinique de la reproduction les Jasmins , 23, Av. Louis BRAILLE, 1002 Tunis,TN 5 GIN, Grenoble Institut des Neurosciences INSERM : U836 , CEA , Université Joseph Fourier - Grenoble I , CHU Grenoble , UJF - Site Santé La Tronche BP 170 38042 Grenoble Cedex 9,FR * Correspondence should be addressed to: Pierre Ray <[email protected] > Abstract The presence of close to 100% large-headed multi-tailed spermatozoa in the ejaculate has been described as a rare phenotype of male infertility with a very poor prognosis. We demonstrated previously that most cases were caused by a homozygous mutation (c.144delC) in the Aurora Kinase C gene (AURKC) leading to the absence or the production of a nonfunctional protein. AURKC deficiency in these patients blocked meiosis and resulted in the production of tetraploid spermatozoa unsuitable for fertilization. We describe here the study of two brothers presenting with large-headed spermatozoa. Molecular analysis of the AURKC gene was carried out in two brothers presenting with a typical large headed spermatozoa phenotype. -
Cellular and Molecular Aspects of the Response of the Testis to Nutrition In
Cellular and molecular aspects of the response of the testis to nutrition in sexually mature sheep Yongjuan Guan 21004548 This thesis is presented for the degree of Doctor of Philosophy of The University of Western Australia School of Animal Biology Institute of Agriculture March 2015 Declaration Declaration The work presented in this thesis is original work of the author, and none of the material in this thesis has been submitted either in full, or part, for a degree at this university or any other universities or institutions before. The experimental designs and manuscript preparation were carried out by myself after discussion with my supervisors Prof Graeme Martin, A/Prof Irek Malecki and Dr Penny Hawken. Yongjuan Guan March 2015 1 Contents Contents Summary ....................................................................................................................................... 4 Acknowledgements ....................................................................................................................... 8 Publications ................................................................................................................................. 10 Chapter 1: General Introduction ................................................................................................. 12 Chapter 2: Literature Review ...................................................................................................... 16 2.1 Male reproduction ............................................................................................................ -
Major Spliceosome Defects Cause Male Infertility and Are Associated with Nonobstructive Azoospermia in Humans
Major spliceosome defects cause male infertility and are associated with nonobstructive azoospermia in humans Hao Wua,b,1, Liwei Sunc,d,1, Yang Wena,e,1, Yujuan Liua,b, Jun Yua,b, Feiyu Maoc,f, Ya Wanga,b, Chao Tongg, Xuejiang Guoa,b, Zhibin Hua,e, Jiahao Shaa,b, Mingxi Liua,b,2, and Laixin Xiac,2 aState Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, People’s Republic of China; bDepartment of Histology and Embryology, Nanjing Medical University, Nanjing 210029, People’s Republic of China; cKey Laboratory of Zebrafish Modeling and Drug Screening for Human Diseases of Guangdong Higher Education Institutes, Department of Developmental Biology, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, People’s Republic of China; dState Key Laboratory of Biomembrane and Membrane Biotechnology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, People’s Republic of China; eDepartment of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, People’s Republic of China; fState Key Laboratory of Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, People’s Republic of China; and gLife Sciences Institute and Innovation Center for Cell Biology, Zhejiang University, Hangzhou 310058, People’s Republic of China Edited by Margaret T. Fuller, Stanford University School of Medicine, Stanford, CA, and approved February 19, 2016 (received for review July 12, 2015) Processing of pre-mRNA into mRNA is an important regulatory Drosophila (9). Therefore, Drosophila provides a simple system mechanism in eukaryotes that is mediated by the spliceosome, a for investigating the complex genetic basis and related mo- huge and dynamic ribonucleoprotein complex. -
Genetic Evaluation of Patients with Non-Syndromic Male Infertility
Journal of Assisted Reproduction and Genetics https://doi.org/10.1007/s10815-018-1301-7 REVIEW Genetic evaluation of patients with non-syndromic male infertility Ozlem Okutman1,2 & Maroua Ben Rhouma1 & Moncef Benkhalifa3 & Jean Muller4,5 & Stéphane Viville1,2 Received: 24 July 2018 /Accepted: 28 August 2018 # Springer Science+Business Media, LLC, part of Springer Nature 2018 Abstract Purpose This review provides an update on the genetics of male infertility with emphasis on the current state of research, the genetic disorders that can lead to non-syndromic male infertility, and the genetic tests available for patients. Methods A comprehensive review of the scientific literature referenced in PubMed was conducted using keywords related to male infertility and genetics. The search included articles with English abstracts appearing online after 2000. Results Mutations in 31 distinct genes have been identified as a cause of non-syndromic human male infertility, and the number is increasing constantly. Screening gene panels by high-throughput sequencing can be offered to patients in order to identify genes involved in various forms of human non-syndromic infertility. We propose a workflow for genetic tests which takes into account semen alterations. Conclusions The identification and characterization of the genetic basis of male infertility have broad implications not only for understanding the cause of infertility but also in determining the prognosis, selection of treatment options, and management of couples. Genetic diagnosis is essential for the success of ART techniques and for preserving future fertility as well as the prognosis for testicular sperm extraction (TESE) and adopted therapeutics. Keywords Male infertility . Non-syndromic . -
Single-Cell RNA Sequencing of Human, Macaque, and Mouse Testes Uncovers Conserved and Divergent Features of Mammalian Spermatogenesis
bioRxiv preprint doi: https://doi.org/10.1101/2020.03.17.994509; this version posted March 18, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Single-cell RNA sequencing of human, macaque, and mouse testes uncovers conserved and divergent features of mammalian spermatogenesis Adrienne Niederriter Shami1,7, Xianing Zheng1,7, Sarah K. Munyoki2,7, Qianyi Ma1, Gabriel L. Manske3, Christopher D. Green1, Meena Sukhwani2, , Kyle E. Orwig2*, Jun Z. Li1,4*, Saher Sue Hammoud1,3,5,6,8* 1Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA 2 Department of Obstetrics, Gynecology and Reproductive Sciences, Integrative Systems Biology Graduate Program, Magee-Womens Research Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA. 3 Cellular and Molecular Biology Program, University of Michigan, Ann Arbor, MI, USA 4 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA 5 Department of Obstetrics and Gynecology, University of Michigan, Ann Arbor, MI, USA 6Department of Urology, University of Michigan, Ann Arbor, MI, USA 7 These authors contributed equally 8 Lead Contact * Correspondence: [email protected] (K.E.O.), [email protected] (J.Z.L.), [email protected] (S.S.H.) bioRxiv preprint doi: https://doi.org/10.1101/2020.03.17.994509; this version posted March 18, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Summary Spermatogenesis is a highly regulated process that produces sperm to transmit genetic information to the next generation. -
Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and Their Molecular Characteristics
International Journal of Molecular Sciences Article Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and Their Molecular Characteristics Agnieszka Malcher 1, Piotr Jedrzejczak 2, Tomasz Stokowy 3 , Soroosh Monem 1, Karolina Nowicka-Bauer 1, Agnieszka Zimna 1, Adam Czyzyk 4, Marzena Maciejewska-Jeske 4, Blazej Meczekalski 4, Katarzyna Bednarek-Rajewska 5, Aldona Wozniak 5, Natalia Rozwadowska 1 and Maciej Kurpisz 1,* 1 Institute of Human Genetics, Polish Academy of Sciences, 60-479 Poznan, Poland; [email protected] (A.M.); [email protected] (S.M.); [email protected] (K.N.-B.); [email protected] (A.Z.); [email protected] (N.R.) 2 Division of Infertility and Reproductive Endocrinology, Department of Gynecology, Obstetrics and Gynecological Oncology, Poznan University of Medical Sciences, 60-535 Poznan, Poland; [email protected] 3 Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; [email protected] 4 Department of Gynecological Endocrinology, Poznan University of Medical Sciences, 60-535 Poznan, Poland; [email protected] (A.C.); [email protected] (M.M.-J.); [email protected] (B.M.) 5 Department of Clinical Pathology, Poznan University of Medical Sciences, 60-355 Poznan, Poland; [email protected] (K.B.-R.); [email protected] (A.W.) * Correspondence: [email protected]; Tel.: +48-61-6579-202 Received: 11 October 2019; Accepted: 29 October 2019; Published: 30 October 2019 Abstract: We analyzed three cases of Complete Androgen Insensitivity Syndrome (CAIS) and report three hitherto undisclosed causes of the disease. RNA-Seq, Real-timePCR, Western immunoblotting, and immunohistochemistry were performed with the aim of characterizing the disease-causing variants.