Human Male Meiosis and Sperm Aneuploidies

Vera, M.; Peinado, Vanessa; Al‐Asmar, Nasser; Gruhn, Jennifer R.; Rodrigo, Lorena; Hassold, Terry; Rubio, Carmen

doi:10.5772/34952

Cited by 4 publications

(3 citation statements)

References 100 publications

(126 reference statements)

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“…Most aneuploidies in male gametes concern the sex chromosomes because during male meiosis, XY chromosomes that harbor only a limited region of homology have to pair and segregate, in contrary to female meiosis where the XX chromosome pair does not create additional challenges. It is estimated that, on average, 2 % of sperm are aneuploid in humans compared to the above mentioned 20-25 % of oocytes (Hassold and Hunt 2001;Vera et al 2012).…”

Section: Introductionmentioning

confidence: 98%

“…Here, we will mainly focus on the role and mechanisms of an important control mechanism, namely the spindle assembly checkpoint, or SAC, for the accuracy of the first meiotic division in female meiosis. Given the fact that most errors occur during female meiosis, we will refrain from discussing problems associated with male meiosis and refer the reader to a review treating also the male perspective (Vera et al 2012). Unless stated otherwise, we will mainly discuss studies done in the mouse.…”

Section: Introductionmentioning

confidence: 98%

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How oocytes try to get it right: spindle checkpoint control in meiosis

Touati

Wassmann

2015

Chromosoma

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The generation of a viable, diploid organism depends on the formation of haploid gametes, oocytes, and spermatocytes, with the correct number of chromosomes. Halving the genome requires the execution of two consecutive specialized cell divisions named meiosis I and II. Unfortunately, and in contrast to male meiosis, chromosome segregation in oocytes is error prone, with human oocytes being extraordinarily "meiotically challenged". Aneuploid oocytes, that are with the wrong number of chromosomes, give rise to aneuploid embryos when fertilized. In humans, most aneuploidies are lethal and result in spontaneous abortions. However, some trisomies survive to birth or even adulthood, such as the well-known trisomy 21, which gives rise to Down syndrome (Nagaoka et al. in Nat Rev Genet 13:493-504, 2012). A staggering 20-25 % of oocytes ready to be fertilized are aneuploid in humans. If this were not bad enough, there is an additional increase in meiotic missegregations as women get closer to menopause. A woman above 40 has a risk of more than 30 % of getting pregnant with a trisomic child. Worse still, in industrialized western societies, child birth is delayed, with women getting their first child later in life than ever. This trend has led to an increase of trisomic pregnancies by 70 % in the last 30 years (Nagaoka et al. in Nat Rev Genet 13:493-504, 2012; Schmidt et al. in Hum Reprod Update 18:29-43, 2012). To understand why errors occur so frequently during the meiotic divisions in oocytes, we review here the molecular mechanisms at works to control chromosome segregation during meiosis. An important mitotic control mechanism, namely the spindle assembly checkpoint or SAC, has been adapted to the special requirements of the meiotic divisions, and this review will focus on our current knowledge of SAC control in mammalian oocytes. Knowledge on how chromosome segregation is controlled in mammalian oocytes may help to identify risk factors important for questions related to human reproductive health.

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Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 98%

How oocytes try to get it right: spindle checkpoint control in meiosis

Touati

Wassmann

2015

Chromosoma

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“…Diploid sperm are found in ~ 0.1% (range 0.05% - 0.47%) of sperm in normal fertile males ( Martin et al , 1996 ; Guttenbach et al , 1997 ; Vera et al , 2012 ). Triploidy is one of the most frequent findings in human spontaneous abortions and occurs in 1-3% of all recognized pregnancies.…”

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confidence: 99%

True polyploid meiosis in the human male

Pearson

Madan

2018

Genet. Mol. Biol.

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Polyploidy does not usually occur in germinal cells of mammals and other higher vertebrates. We describe a unique example of mosaic autotetraploidy in the meiosis of a human male. Although the original observations were made in the late 1960s, we did not publish them at that time, because we expected to detect further examples that could be described together. However, this did not occur and we have now decided to make the observations available to demonstrate that polyploidy in mammalian male meiosis can arise at a higher frequency than expected by random polyploidization of individual meiotic cells, by either DNA duplication or cell fusion prior to synapsis. This is the first description of a population of primary spermatocytes exhibiting multivalent formation at leptotene /diakinesis in human spermatogenesis, with ring, chain, frying pan and other types of quadrivalents, typical of autotetraploidy. As many of the polyploid configurations showed apoptotic breakdown, it is likely that diploid and/or aneuploid spermatozoa would have rarely or never resulted from this mosaic autotetraploid meiosis.

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Cytogenetic Factors in Male Infertility

Singh

2017

Male Infertility: Understanding, Causes and Treatment

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Human Male Meiosis and Sperm Aneuploidies

Cited by 4 publications

References 100 publications

How oocytes try to get it right: spindle checkpoint control in meiosis

How oocytes try to get it right: spindle checkpoint control in meiosis

True polyploid meiosis in the human male

Cytogenetic Factors in Male Infertility

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