A genetic variant in the 3′-UTR of <i>PIWIL4</i> confers risk for extreme phenotypes of male infertility by altering miR-215 and miR-136 binding affinity
This work was supported by the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (grant: PID2020-120157RB-I00 funded by MICIU/AEI/10.13039/501100011033; and grant: PID2023-152215OB-I00 funded by MICIU/AEI/10.13039/501100011033 and ERDF, EU). M.C.-M is beneficiary of a Juan de la Cierva 2022 postdoctoral fellowship (reference number JDC2022-048561-I) funded by MCIN/AEI/10.13039/501100011033 and European Union NextGenerationEU/PRTR. S.L. received support from "Generalitat de Catalunya" (grant 2021SGR052). S.L. is sponsored by the "Researchers Consolidation Program" from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). S.G.-M. was funded by grant ref. FPU23/02674. S.S. was supported by funds from the Portuguese Foundation for Science and Technology (FCT; 10.54499/DL57/2016/CP1363/CT0019). The authors declare no competing interests.
Authors
- Esther Santamaría (ORCID: https://orcid.org/0000-0002-3764-4673)
- Yanira Ortega (ORCID: https://orcid.org/0000-0003-0870-948X)
- Alexandra M. Lopes (ORCID: https://orcid.org/0000-0003-3539-2318)
- F. David Carmona (ORCID: https://orcid.org/0000-0002-1427-7639)
- Lara Bossini‐Castillo (ORCID: https://orcid.org/0000-0002-5471-5824)
- David Amorós (ORCID: https://orcid.org/0009-0007-0669-5017)
- Ana Clavero (ORCID: https://orcid.org/0000-0002-0821-034X)
- Susana Gómez (ORCID: https://orcid.org/0000-0002-4890-0548)
- Lluís Bassas (ORCID: https://orcid.org/0000-0002-3473-3611)
- Luis Martínez-Granados (ORCID: https://orcid.org/0000-0002-2643-0389)
- Nicolás Garrido (ORCID: https://orcid.org/0000-0001-8271-5218)
- Isabel Pereira (ORCID: https://orcid.org/0000-0001-7076-0927)
- Rogelio Palomino‐Morales (ORCID: https://orcid.org/0000-0003-3507-343X)
- Iris Pereira‐Caetano
- Sara González‐Muñoz (ORCID: https://orcid.org/0000-0002-1865-9714)
- Miguel Burgos (ORCID: https://orcid.org/0000-0003-4446-9313)
- Sara Larriba (ORCID: https://orcid.org/0000-0003-4579-5452)
- Susana Seixas
- Andrea Espuch-Oliver (ORCID: https://orcid.org/0000-0001-9013-3621)
- Andrea Guzmán‐Jiménez (ORCID: https://orcid.org/0000-0002-2091-0568)
- Andrea Rodrı́guez-Martı́n
- Olga López‐Rodrigo (ORCID: https://orcid.org/0000-0001-9325-5835)
- Fernando Quintana (ORCID: https://orcid.org/0000-0003-4460-0270)
- Cristina González (ORCID: https://orcid.org/0000-0003-3999-4957)
- Miriam Cerván‐Martín (ORCID: https://orcid.org/0000-0001-6033-0587)
- Vicente Maldonado (ORCID: https://orcid.org/0000-0001-6678-5507)
- José Antonio Castilla (ORCID: https://orcid.org/0000-0003-2185-565X)
- Noelia Galiano-Gutiérrez
- M Molina (ORCID: https://orcid.org/0000-0002-4131-4597)
- Ana Aguiar (ORCID: https://orcid.org/0000-0001-7841-7410)
- Miguel Ángel Vilches (ORCID: https://orcid.org/0000-0002-5533-437X)
- Maria Luisa Garcı́a-Peña
- M. Carmen Gonzálvo
- Graça Pinto
- João Gonçalves
Institutions
- Universidad de Granada (ES)
- Universidade do Porto (PT)
- Hospital Universitario de Canarias (ES)
- Genesys (United States) (US)
- Institut d'Investigació Biomédica de Bellvitge (ES)
- Gene Therapy Laboratory (FR)
- Hospital Universitario Príncipe de Asturias (ES)
- Administração Regional de Saúde de Lisboa e Vale do Tejo (PT)
- Instituto de Investigación Biosanitaria de Granada (ES)
- Nova Medical (United States) (US)
- Hospital Universitario Virgen de las Nieves (ES)
- Complejo Hospitalario de Jaén (ES)
- National Institute of Health Dr. Ricardo Jorge (PT)
- Puigvert Foundation (ES)
- Complejo Hospitalario Torrecárdenas (ES)
- Instituto de Parasitología y Biomedicina "López - Neyra" (ES)
- i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (PT)
- Hospital Dr. Nélio Mendonça (PT)
- Universidad de Sevilla (ES)
Publication Details
- Journal
- Human Reproduction
- Published
- 2025-06-11
- DOI
- https://doi.org/10.1093/humrep/deaf107
- Primary Topic
- Chromosomal and Genetic Variations
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Commission
- Generalitat de Catalunya
- Ministerio de Economía y Competitividad
- Universidad de Granada
- Fundação para a Ciência e a Tecnologia
- European Regional Development Fund
- Agencia Estatal de Investigación
- Spanish National Plan for Scientific and Technical Research and Innovation