Editorial: Sperm Differentiation and Spermatozoa Function: Mechanisms, Diagnostics, and Treatment

Avidor‐Reiss, Tomer; Zhang, Zhibing; Li, Xin Zhiguo

doi:10.3389/fcell.2020.00219

Cited by 4 publications

(5 citation statements)

References 35 publications

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“…Unfortunately, the effect of PLK4 “normalization” cannot be tested in the mouse model, because mouse sperm and zygotes appear to lack centrioles (Avidor-Reiss and Fisherman 2019 ; Avidor Reis et al 2020 ) and the rate of aneuploidies in mouse embryos is more than an order of magnitude lower than in man (Bond and Chandley 1983 ). In the future, the in vitro generation of human primordial germ cells from pluripotent stem cells may allow the investigation of the mechanisms of early human embryonic cell divisions, including the role of PLK4 (Jung et al 2017 ; Hayashi et al 2018 ).…”

Section: Resultsmentioning

confidence: 99%

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4

Sperling

2022

Hum Genet

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The evolutionary conserved Polo-like kinase 4 (PLK4) is essential for centriole duplication, spindle assembly, and de novo centriole formation. In man, homozygous mutations in PLK4 lead to primary microcephaly, altered PLK4 expression is associated with aneuploidy in human embryos. Here, we report on a consanguineous four-generation family with 8 affected individuals compound heterozygous for a novel missense variant, c.881 T > G, and a deletion of the PLK4 gene. The clinical phenotype of the adult patients is mild compared to individuals with previously described PLK4 mutations. One individual was homozygous for the variant c.881G and phenotypically unaffected. The deletion was inherited by 14 of 16 offspring and thus exhibits transmission ratio distortion (TRD). Moreover, based on the already published families with PLK4 mutations, it could be shown that due to the preferential transmission of the mutant alleles, the number of affected offspring is significantly increased. It is assumed that reduced expression of PLK4 decreases the intrinsically high error rate of the first cell divisions after fertilization, increases the number of viable embryos and thus leads to preferential transmission of the deleted/mutated alleles.

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Section: Resultsmentioning

confidence: 99%

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4

Sperling

2022

Hum Genet

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“…There are several examples of dispensable genes, a gene being able to compensate the function of its paralog after its deletion [19,20]. There are also several examples of at least partial non-redundancy of paralogs [21][22][23][24].…”

Section: Indispensable Germ-cell Specific Genes In Female And/or Male...mentioning

confidence: 99%

The paralogs’ enigma of germ-cell specific genes dispensable for fertility: the case of 19 oogenesin genes

Castille

Thépot

Fouchécourt

et al. 2023

Biology of Reproduction

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Gene knockout experiments have shown that many genes are dispensable for a given biological function. In this review, we make an assessment of male and female germ cell-specific genes dispensable for the function of reproduction in mice, the inactivation of which does not affect fertility. In particular, we describe the deletion of a 1 Mb block containing nineteen paralogous genes of the oogenesin/Pramel family specifically expressed in female and/or germ cells, that has no consequences in both sexes. We discuss this notion of dispensability and the experiments that need to be carried out to definitively conclude that a gene is dispensable for a function.

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“…Spermiogenesis is the last step of spermatogenesis that determines most of the species-specific morphology of spermatozoa. During the transition from spermatid to spermatozoon, protamines replace histones in the DNA packaging, new RNA granules form, and protein-based centrioles (26). Spermatogenesis in invertebrates is comparable across species.…”

Section: Comparative Spermatogenesis and Sperm Productionmentioning

confidence: 99%

“…In mammals, the spermatozoon continues to mature during its transport through the epididymis and exposure to the seminal secretions (and subsequently in the female reproductive system). The spermatozoon gains motility as well as the capacity to fertilize an oocyte and incorporates factors that will contribute to the success of the embryo developments (proteins and microRNAs) from the epididymal fluid (26,42,43). An unusual process also occurs during epididymal sperm maturation of the short-beaked echidna.…”

Section: Comparative Post-testicular Sperm Maturationmentioning

confidence: 99%

Recent Progress in Spermatology Contributing to the Knowledge and Conservation of Rare and Endangered Species

Comizzoli

Holt

2022

Annu. Rev. Anim. Biosci.

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There is a remarkable diversity in the animal kingdom regarding mechanisms underlying the production, maturation, structure, and function of sperm cells. Spermatology studies contribute to the knowledge of species diversity and also provide information about individual or population fitness. Furthermore, this fundamental research is required before collected spermatozoa can be used for conservation breeding, including assisted reproduction and cryobanking. This article aims to ( a) review the most recent knowledge on sperm morphology and function in wild animal species, ( b) analyze how this knowledge can be used to save species in their natural habitat or ex situ, and ( c) propose future scientific directions in wildlife spermatology that could positively impact animal conservation. Variations in sperm structure and performance within and between species have multiple origins and significance. This collective body of knowledge enables the design and implementation of conservation strategies and action plans that integrate several disciplines. Expected final online publication date for the Annual Review of Animal Biosciences, Volume 10 is February 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

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Editorial: Sperm Differentiation and Spermatozoa Function: Mechanisms, Diagnostics, and Treatment

Cited by 4 publications

References 35 publications

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4

The paralogs’ enigma of germ-cell specific genes dispensable for fertility: the case of 19 oogenesin genes

Recent Progress in Spermatology Contributing to the Knowledge and Conservation of Rare and Endangered Species

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