Sperm from a patient with a homozygous in-frame deletion in CATSPERE lack functional CatSper expression and fail to fertilise at IVF

S. G. Brown*, P.V. Lishko, S.J. Publicover, C.L.R. Barratt, S.M. Martins da Silva

*Corresponding author for this work

    Research output: Chapter in Book/Report/Conference proceedingConference contribution

    Abstract

    Background: CatSper is a multi-subunit sperm-specific calcium channel that mediates the progesterone-induced increase in intracellular calcium. Evidence from CatSper subunit knock-out mouse models implicates it as essential for sperm fertilisation competence. Similarly, impaired or absent P4 response in patient sperm is associated with poor or loss of fertilisation at IVF. However, genetic evidence in a limited number of cases reported genomic deletions spanning a number of loci. We reported a unique case (Williams et al., 2014) of a man (patient 1) with sperm that lacked functional CatSper expression but he had no genetic errors in CatSper subunit coding regions. Subsequently, two new proteins have been proposed to be part of the mature complex (CatSper-epsilon and CatSper-zeta).
    Original languageEnglish
    Title of host publicationXIIIth International Symposium on Spermatology
    EditorsLars Björndahl, John Flanagan, Rebecka Holmberg, Ulrik Kvist
    Place of PublicationCham
    PublisherSpringer
    Pages341-342
    Number of pages2
    ISBN (Electronic)9783030662929
    ISBN (Print)9783030662912
    DOIs
    Publication statusPublished - 27 Jul 2021

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