Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.

doi:10.1016/j.ajhg.2019.10.007

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Article

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.

American journal of human genetics - 5 Dec 2019

Lorès Patrick, Dacheux Denis, Kherraf Zine-Eddine, Nsota Mbango Jean-Fabrice, Coutton Charles, Stouvenel Laurence, Ialy-Radio Come, Amiri-Yekta Amir, Whitfield Marjorie, Schmitt Alain, Cazin Caroline, Givelet Maëlle, Ferreux Lucile, Fourati Ben Mustapha Selima, Halouani Lazhar, Marrakchi Ouafi, Daneshipour Abbas, El Khouri Elma, Do Cruzeiro Marcio, Favier Maryline, Guillonneau François, Chaudhry Marhaba, Sakheli Zeinab, Wolf Jean-Philippe, Patrat Catherine, Gacon Gérard, Savinov Sergey N, Hosseini Seyedeh Hanieh, Robinson Derrick R, Zouari Raoudha, Ziyyat Ahmed, Arnoult Christophe, Dulioust Emmanuel, Bonhivers Mélanie, Ray Pierre F, Touré Aminata

Abstract excerpt

In humans, structural or functional defects of the sperm flagellum induce asthenozoospermia, which accounts for the main sperm defect encountered in infertile men. Herein we focused on morphological abnormalities of the sperm flagellum (MMAF), a phenotype also termed "short tails," which constitutes one of the most severe sperm morphological defects resulting in asthenozoospermia. In previous work based on...

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Identifiers

PMID: 31735292
DOI: 10.1016/j.ajhg.2019.10.007
PMCID: PMC6904810

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