Mfsd14a Hiat1 gene disruption causes globozoospermia and infertility in male miceReportar como inadecuado


Mfsd14a Hiat1 gene disruption causes globozoospermia and infertility in male mice


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Publication Date: 2016-04-22

Alternative Title: Mfsd14a disruption causes globozoospermia

Journal Title: Reproduction

Publisher: Bioscientifica

Language: English

Type: Article

Metadata: Show full item record

Citation: Doran, J., Walters, C., Kyle, V., Wooding, P., Hammett-Burke, R., & Colledge, W. H. (2016). Mfsd14a (Hiat1) gene disruption causes globozoospermia and infertility in male mice. Reproduction

Description: This is the author accepted manuscript. The final version is available from Bioscientifica via http://dx.doi.org/10.1530/REP-15-0557

Abstract: The Mfsd14a gene, previous called Hiat1, encodes a transmembrane protein of unknown function with homology to the solute carrier protein family. To study the function of the MFSD14A protein, mutant mice (Mus musculus, strain 129S6Sv/Ev) were generated with the Mfsd14a gene disrupted with a LacZ reporter gene. Homozygous mutant mice are viable and healthy but males are sterile due to a 100-fold reduction in the number of spermatozoa in the vas deferens. Male mice have adequate levels of testosterone and show normal copulatory behaviour. The few spermatozoa that are formed show rounded head defects similar to those found in humans with globozoospermia. Spermatogenesis proceeds normally up to the round spermatid stage but the subsequent structural changes associated with spermiogenesis are severely disrupted with failure of acrosome formation, sperm head condensation and mitochondrial localization to the mid-piece of the sperm. Staining for ß-galactosidase activity as a surrogate for Mfsd14a expression indicates expression in Sertoli cells suggesting that they may transport a solute from the bloodstream that is required for spermiogenesis.

Sponsorship: This work was funded by a Ford Physiology Fund Endowment (WHC).

Identifiers:

This record's URL: http://dx.doi.org/10.1530/REP-15-0557https://www.repository.cam.ac.uk/handle/1810/255870





Autor: Doran, JoanneWalters, CaraKyle, VictoriaWooding, PeterHammett-Burke, RebeccaColledge, William Henry

Fuente: https://www.repository.cam.ac.uk/handle/1810/255870



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