Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.

doi:10.1111/andr.13221

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Article

Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.

Andrology - 1 Oct 2022

Cerván-Martín Miriam, Bossini-Castillo Lara, Guzmán-Jiménez Andrea, Rivera-Egea Rocío, Garrido Nicolás, Lujan Saturnino, Romeu Gema, Santos-Ribeiro Samuel, Castilla José Antonio, Gonzalvo María Del Carmen, Clavero Ana, Maldonado Vicente, Vicente Francisco Javier, Burgos Miguel, Jiménez Rafael, González-Muñoz Sara, Sánchez-Curbelo Josvany, López-Rodrigo Olga, Pereira-Caetano Iris, Marques Patricia Isabel, Carvalho Filipa, Barros Alberto, Bassas Lluís, Seixas Susana, Gonçalves João, Larriba Sara, Lopes Alexandra Manuel, Palomino-Morales Rogelio Jesús, Carmona Francisco David

Abstract excerpt

BACKGROUND: Previous studies in animal models evidenced that genetic mutations of KATNAL1, resulting in dysfunction of its encoded protein, lead to male infertility through disruption of microtubule remodelling and premature germ cell exfoliation. Subsequent studies in humans also suggested a possible role of KATNAL1 single-nucleotide polymorphisms in the development of male infertility as a consequence of severe...

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PMID: 35752927
DOI: 10.1111/andr.13221
PMCID: PMC9546047

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