A de novo paradigm for male infertility

Autor:	Oud, M.S., Smits, R.M., Smith, H.E., Mastrorosa, F.K., Holt, G.S., Houston, B.J., de Vries, P.F., Alobaidi, B.K.S., Batty, L.E., Ismail, H., Greenwood, J., Sheth, H., Mikulasova, A., Astuti, G.D.N., Gilissen, C., McEleny, K., Turner, H., Coxhead, J., Cockell, S., Braat, D.D.M., Fleischer, K., D’Hauwers, K.W.M., Schaafsma, E., Conrad, Donald F., Nagirnaja, Liina, Aston, Kenneth I., Carrell, Douglas T., Hotaling, James M., Jenkins, Timothy G., McLachlan, Rob, O’Bryan, Moira K., Schlegel, Peter N., Eisenberg, Michael L., Sandlow, Jay I., Jungheim, Emily S., Omurtag, Kenan R., Lopes, Alexandra M., Seixas, Susana, Carvalho, Filipa, Fernandes, Susana, Barros, Alberto, Gonçalves, João, Caetano, Iris, Pinto, Graça, Correia, Sónia, Laan, Maris, Punab, Margus, Meyts, Ewa Rajpert-De, Jørgensen, Niels, Almstrup, Kristian, Krausz, Csilla G., Jarvi, Keith A., Nagirnaja, L., Conrad, D.F., Friedrich, C., Kliesch, S., Aston, K.I., Riera-Escamilla, A., Krausz, C., Gonzaga-Jauregui, C., Santibanez-Koref, M., Elliott, D. J., Vissers, L.E.L.M., Tüttelmann, F., O’Bryan, M.K., Ramos, L., Xavier, M.J., van der Heijden, G.W., Veltman, J.A.
Přispěvatelé:	NOVA Medical School\|Faculdade de Ciências Médicas (NMS\|FCM), Centre for Toxicogenomics and Human Health (ToxOmics)
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	Male Chemistry(all) Gene Expression General Physics and Astronomy Cell Cycle Proteins Bioinformatics Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] Male infertility Loss of Function Mutation Medicine Exome DNA sequencing Azoospermia Multidisciplinary Disease genetics RNA-Binding Proteins Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] Infertile Man Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] DNA-Binding Proteins Adult Science Mutation Missense Genética Humana Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9] Physics and Astronomy(all) Article General Biochemistry Genetics and Molecular Biology Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18] Text mining Exome Sequencing Humans Male Infertility Genetic Predisposition to Disease Spermatogenesis Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] business.industry Biochemistry Genetics and Molecular Biology(all) Gene Expression Profiling Tumor Suppressor Proteins Other Research Radboud Institute for Health Sciences [Radboudumc 0] Oligospermia General Chemistry medicine.disease Doenças Genéticas Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10] Case-Control Studies Infertility business
Zdroj:	Repositório Científico de Acesso Aberto de Portugal Repositório Científico de Acesso Aberto de Portugal (RCAAP) instacron:RCAAP Nature Communications, 13 Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona Nature Communications Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022) Nature Communications, 13, 1
ISSN:	2041-1723
Popis:	De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied disorder. To test this hypothesis, we utilize trio-based exome sequencing in a cohort of 185 infertile males and their unaffected parents. Following a systematic analysis, 29 of 145 rare (MAF Germline de novo mutations can impact individual fitness, but their role in human male infertility is understudied. Trio-based exome sequencing identifies many new candidate genes affecting male fertility, including an essential regulator of male germ cell pre-mRNA splicing.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db7e1b24767adef20029e3a8aa6e2042 Zobrazit plný text záznamu Full text from SpringerLink