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

doi:10.1007/978-3-030-66292-9_46

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

SAS - HSC - Biomedical Sciences

Research output: Chapter in Book/Report/Conference proceeding › Conference 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 language	English
Title of host publication	XIIIth International Symposium on Spermatology
Editors	Lars Björndahl, John Flanagan, Rebecka Holmberg, Ulrik Kvist
Place of Publication	Cham
Publisher	Springer
Pages	341-342
Number of pages	2
ISBN (Electronic)	9783030662929
ISBN (Print)	9783030662912
DOIs	https://doi.org/10.1007/978-3-030-66292-9_46
Publication status	Published - 27 Jul 2021

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Brown, S. G., Lishko, P. V., Publicover, S. J., Barratt, C. L. R., & Martins da Silva, S. M. (2021). Sperm from a patient with a homozygous in-frame deletion in CATSPERE lack functional CatSper expression and fail to fertilise at IVF. In L. Björndahl, J. Flanagan, R. Holmberg, & U. Kvist (Eds.), XIIIth International Symposium on Spermatology (pp. 341-342). Springer. https://doi.org/10.1007/978-3-030-66292-9_46

Brown, S. G. ; Lishko, P.V. ; Publicover, S.J. ; Barratt, C.L.R. ; Martins da Silva, S.M. / Sperm from a patient with a homozygous in-frame deletion in CATSPERE lack functional CatSper expression and fail to fertilise at IVF. XIIIth International Symposium on Spermatology. editor / Lars Björndahl ; John Flanagan ; Rebecka Holmberg ; Ulrik Kvist. Cham : Springer, 2021. pp. 341-342

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

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).",

author = "Brown, {S. G.} and P.V. Lishko and S.J. Publicover and C.L.R. Barratt and {Martins da Silva}, S.M.",

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Brown, SG, Lishko, PV, Publicover, SJ, Barratt, CLR & Martins da Silva, SM 2021, Sperm from a patient with a homozygous in-frame deletion in CATSPERE lack functional CatSper expression and fail to fertilise at IVF. in L Björndahl, J Flanagan, R Holmberg & U Kvist (eds), XIIIth International Symposium on Spermatology. Springer, Cham, pp. 341-342. https://doi.org/10.1007/978-3-030-66292-9_46

Sperm from a patient with a homozygous in-frame deletion in CATSPERE lack functional CatSper expression and fail to fertilise at IVF. / Brown, S. G.; Lishko, P.V.; Publicover, S.J.; Barratt, C.L.R.; Martins da Silva, S.M.

XIIIth International Symposium on Spermatology. ed. / Lars Björndahl; John Flanagan; Rebecka Holmberg; Ulrik Kvist. Cham : Springer, 2021. p. 341-342.

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution

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T1 - Sperm from a patient with a homozygous in-frame deletion in CATSPERE lack functional CatSper expression and fail to fertilise at IVF

AU - Brown, S. G.

AU - Lishko, P.V.

AU - Publicover, S.J.

AU - Barratt, C.L.R.

AU - Martins da Silva, S.M.

PY - 2021/7/27

Y1 - 2021/7/27

N2 - 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).

AB - 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).

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DO - 10.1007/978-3-030-66292-9_46

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BT - XIIIth International Symposium on Spermatology

A2 - Björndahl, Lars

A2 - Flanagan, John

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Brown SG, Lishko PV, Publicover SJ, Barratt CLR, Martins da Silva SM. Sperm from a patient with a homozygous in-frame deletion in CATSPERE lack functional CatSper expression and fail to fertilise at IVF. In Björndahl L, Flanagan J, Holmberg R, Kvist U, editors, XIIIth International Symposium on Spermatology. Cham: Springer. 2021. p. 341-342 https://doi.org/10.1007/978-3-030-66292-9_46

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

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