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3. Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

Author

Bakhshalizadeh, Shabnam, Hock, Daniella H., Siddall, Nicole A., Kline, Brianna L., Sreenivasan, Rajini, Bell, Katrina M., Casagranda, Franca, Kamalanathan, Sadishkumar, Sahoo, Jayaprakash, Narayanan, Niya, Naik, Dukhabandhu, Suryadevara, Varun, Compton, Alison G., Amarasekera, Sumudu S. C., Kapoor, Ridam, Jaillard, Sylvie, Simpson, Andrea, Robevska, Gorjana, van den Bergen, Jocelyn, Pachernegg, Svenja, Ayers, Katie L., Thorburn, David R., Stroud, David A., Hime, Gary R., Sinclair, Andrew H., and Tucker, Elena J.

Published
2023
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7. Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Author

Ayers, Katie, Eggers, Stefanie, Rollo, Ben, Smith, Katherine, Davidson, Nadia, Siddall, Nicole, Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben-Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jørgensen, Anne, Schittenhelm, Ralf, Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David, Bahlo, Melanie, Oshlack, Alicia, O'Brien, Terrence, Kwan, Patrick, Koopman, Peter, Hime, Gary, Girard, Nadine, Hoffmann, Chen, Shilon, Yuval, Zung, Amnon, Bertini, Enrico, Milh, Mathieu, Ben Rhouma, Bochra, Belguith, Neila, Bashamboo, Anu, Mcelreavey, Ken, Banne, Ehud, Weintrob, Naomi, Benzeev, Bruria, Sinclair, Andrew, Murdoch Children's Research Institute (MCRI), University of Melbourne, Victorian Clinical Genetics Services, Monash University [Melbourne], The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Queensland [Brisbane], Technion - Israel Institute of Technology [Haifa], Bambino Gesù Children’s Hospital [Rome, Italy], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique des Troubles du Neurodéveloppement = Developmental Brain Disorders Laboratory (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Tel Aviv Sourasky Medical Center [Te Aviv], The Hebrew University Hadassah Medical School, Chaim Sheba Medical Center, Tel Aviv University (TAU), Rigshospitalet [Copenhagen], Copenhagen University Hospital, Monash University [Clayton], Peter Mac Callum Cancer Centre, Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Kaplan Medical Center [Rehovot, Israel], Université de Gabès, Université de Sfax - University of Sfax, Hôpital Charles Nicolle [Tunis], Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Wolfson Medical Center, This study was supported by a National Health and Medical Research Council (NHMRC) programme grant (1074258) awarded to AS, NHMRC project grant (1156942) (K.A.), a Medical Research Future Fund Stem Cells Mission grant (MRF1201781) (K.A., B.N.R. and P.Kw), an Australian Research Council Future Fellowship (FT100100764) to M.B., A NHMRC Investigator Grant (1174040) to D.W., Agence Nationale de la Recherche funding ANR-10-LABX-73 REVIVE, ANR-17-CE14-0038-01 and ANR 20 CE14 0007 to K.M., ANR-19-CE140022 and ANR-19-CE14-0012 to A.B., G.Z. and E.B. are members of the European Reference Network for Rare Neurological Diseases - Project ID No 739510., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010), ANR-20-CE14-0007,Goldilocks,Analyse intégrée du rôle du facteur de transcription SF-1 / NR5A1 et de ses gènes cibles dépendants du dosage dans la fonction gonadique et les troubles du développement sexuel (DSD)(2020), ANR-19-CE14-0022,SexDiff,Régulation de la détermination du sexe et de la différenciation ovarienne : implications dans les troubles du développement sexuel(2019), and ANR-19-CE14-0012,RNA-SEX,Fonction de l'ARN hélicase dans la détermination du sexe chez les vertébrés et les troubles du développement du sexe chez l'homme (DSD)(2019)

Subjects
MESH: Humans, MESH: RNA-Binding Proteins, MESH: Testis, [SDV]Life Sciences [q-bio], MESH: Gonadal Dysgenesis, MESH: Antigens, Neoplasm, MESH: Induced Pluripotent Stem Cells, MESH: Male, MESH: Intellectual Disability
Abstract

International audience; Squamous cell carcinoma antigen recognized by T cells 3 ( SART3 ) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome. Here, we identify recessive variants in SART3 in nine individuals presenting with intellectual disability, global developmental delay and a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals. Knockdown of the Drosophila orthologue of SART3 reveals a conserved role in testicular and neuronal development. Human induced pluripotent stem cells carrying patient variants in SART3 show disruption to multiple signalling pathways, upregulation of spliceosome components and demonstrate aberrant gonadal and neuronal differentiation in vitro. Collectively, these findings suggest that bi-allelic SART3 variants underlie a spliceosomopathy which we tentatively propose be termed INDYGON syndrome ( I ntellectual disability, N eurodevelopmental defects and D evelopmental delay with 46,X Y GON adal dysgenesis). Our findings will enable additional diagnoses and improved outcomes for individuals born with this condition.

Published
2023

12. The Role of HnrnpF/H as a Driver of Oligoteratozoospermia

Author

Netherton, Jacob, primary, Ogle, Rachel, additional, Robinson, Benjamin R., additional, Molloy, Mark, additional, Krisp, Christoph, additional, Velkov, Tony, additional, Casagranda, Franca, additional, Dominado, Nicole, additional, Villaverde, Ana Izabel Silva Balbin, additional, Zhang, Xu Dong, additional, Hime, Gary R., additional, and Baker, Mark A., additional

Published
2023
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33. How the Australian Functional Genomics Network (AFGN) contributes to improved patient care

Author

Scott, Hamish S., Matotek, Ebony, Mattiske, Tessa, Bryson-Richardson, Robert J., Smyth, Ian, Gecz, Jozef, Christodoulou, John, Palpant, Nathan, Smith, Kelly, Warr, Coral, Bennetts, Bruce, Thomas, Paul, Bowles, Josephine, Hilliard, Massimo, Hime, Gary, Hool, Livia, Quinn, Leonie, Wolvetang, Ernst, Jamieson, Robyn, Baynam, Gareth, Dudding-Byth, Tracy, Tan, Tiong Yang, Milnes, Di, Wallis, Mathew, Palmer, Elizabeth, Patel, Chirag, Jones, Kristi, Tam, Patrick, Stark, Zornitza, Dunwoodie, Sally, and Sinclair, Andrew

Published
2024
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40. Rbf Regulates Drosophila Spermatogenesis via Control of Somatic Stem and Progenitor Cell Fate in the Larval Testis

Author

Quinn, Leonie, Dominado, Nicole, La Marca, John E., Siddall, Nicole A., Heaney, James, Tran, Mai, Cai, Yu, Yu, Fengwei, Wang, Hongyan, Somers, W. Gregory, Hime, Gary R., Quinn, Leonie, Dominado, Nicole, La Marca, John E., Siddall, Nicole A., Heaney, James, Tran, Mai, Cai, Yu, Yu, Fengwei, Wang, Hongyan, Somers, W. Gregory, and Hime, Gary R.

Abstract

The Drosophila testis has been fundamental to understanding how stem cells interact with their endogenous microenvironment, or niche, to control organ growth in vivo. Here, we report the identification of two independent alleles for the highly conserved tumor suppressor gene, Retinoblastoma-family protein (Rbf), in a screen for testis phenotypes in X chromosome third-instar lethal alleles. Rbf mutant alleles exhibit overproliferation of spermatogonial cells, which is phenocopied by the molecularly characterized Rbf11 null allele. We demonstrate that Rbf promotes cell-cycle exit and differentiation of the somatic and germline stem cells of the testes. Intriguingly, depletion of Rbf specifically in the germline does not disrupt stem cell differentiation, rather Rbf loss of function in the somatic lineage drives overproliferation and differentiation defects in both lineages. Together our observations suggest that Rbf in the somatic lineage controls germline stem cell renewal and differentiation non-autonomously via essential roles in the microenvironment of the germline lineage.

Published
2016

42. RNA binding protein Musashi-2 regulates PIWIL1 and TBX1 in mouse spermatogenesis.

Author

Sutherland, Jessie M., Sobinoff, Alexander P., Fraser, Barbara A., Redgrove, Kate A., Siddall, Nicole A., Koopman, Peter, Hime, Gary R., and McLaughlin, Eileen A.

Subjects
SPERMATOGENESIS, RNA-binding proteins, GENETIC regulation, CELL proliferation, CELL death
Abstract

RNA-binding proteins (RBP) are important facilitators of post-transcriptional gene regulation. We have previously established that nuclear overexpression of the RBP Musashi-2 (MSI2) during male germ cell maturation is detrimental to sperm cell development and fertility. Herein we determine the genes and pathways impacted by the upregulation of Msi2. Microarray analysis and qPCR confirmed differential gene expression in factors fundamental to the cell cycle, cellular proliferation, and cell death. Similarly, comparative protein expression analysis via iTRAQ, immunoblot, and immunolocalization, identified differential expression and localization of important regulators of transcription, translation, RNA processing, and spermatogenesis. Specifically, the testis-expressed transcription factor, Tbx1, and the piRNA regulator of gamete development, Piwil1, were both found to be targeted for translational repression by MSI2. This study provides key evidence to support a fundamental role for MSI2 in post-transcriptional regulation during male gamete development. [ABSTRACT FROM AUTHOR]

Published
2018
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44. Knockout of RNA Binding Protein MSI2 Impairs Follicle Development in the Mouse Ovary: Characterization of MSI1 and MSI2 during Folliculogenesis

Author

Sutherland, Jessie, primary, Sobinoff, Alexander, additional, Gunter, Kara, additional, Fraser, Barbara, additional, Pye, Victoria, additional, Bernstein, Ilana, additional, Boon, Evan, additional, Siddall, Nicole, additional, De Andres, Luisa, additional, Hime, Gary, additional, Holt, Janet, additional, Graf, Thomas, additional, and McLaughlin, Eileen, additional

Published
2015
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45. RNA binding protein Musashi‐1 directly targetsMsi2andErhduring early testis germ cell development and interacts with IPO5 upon translocation to the nucleus

Author

Sutherland, Jessie M., primary, Sobinoff, Alexander P., additional, Fraser, Barbara A., additional, Redgrove, Kate A., additional, Davidson, Tara‐Lynne, additional, Siddall, Nicole A., additional, Koopman, Peter, additional, Hime, Gary R., additional, and McLaughlin, Eileen A., additional

Published
2015
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49. Developmental Expression of Musashi-1 and Musashi-2 RNA-Binding Proteins During Spermatogenesis: Analysis of the Deleterious Effects of Dysregulated Expression1

Author

Sutherland, Jessie M., primary, Fraser, Barbara A., additional, Sobinoff, Alexander P., additional, Pye, Victoria J., additional, Davidson, Tara-Lynne, additional, Siddall, Nicole A., additional, Koopman, Peter, additional, Hime, Gary R., additional, and McLaughlin, Eileen A., additional

Published
2014
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