Mechanisms of nondisjunction in human spermatogenesis

Martin, Renée H.

doi:10.1159/000086895

Cited by 26 publications

(18 citation statements)

References 92 publications

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“…This point is of specific interest as only meiotic divisions were exposed to EE2 in our study. Although such disturbances can affect all chromosomes, it has been observed that chromosomes with fewer recombination sites, or chiasma, exhibit higher levels of aneuploidy in gametes (56)(57)(58)(59)(60)(61).…”

Section: Discussionmentioning

confidence: 99%

Aneuploid sperm formation in rainbow trout exposed to the environmental estrogen 17α-ethynylestradiol

Brown

Schultz

Cloud

et al. 2008

Proc. Natl. Acad. Sci. U.S.A.

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Environmental contaminants that mimic native estrogens (i.e., environmental estrogens) are known to significantly impact a wide range of vertebrate species and have been implicated as a source for increasing human male reproductive deficiencies and diseases. Despite the widespread occurrence of environmental estrogens and recognized detrimental effects on male vertebrate reproduction, no specific mechanism has been determined indicating how reduced fertility and/or fecundity is achieved. Previous studies show that male rainbow trout, Oncorhynchus mykiss, exposed to the environmental estrogen 17␣-ethynylestradiol (EE2) before gamete formation and fertilization produce progeny with significantly reduced embryonic survival. To determine whether this observed decrease results from sperm chromosome alterations during spermatogenesis, male rainbow trout were exposed to 10 ng of EE2/l for 50 days. After exposure, semen was collected and sperm aneuploidy levels analyzed with two chromosome markers by fluorescent in situ hybridization. In vitro fertilizations were also conducted by using control and exposed sperm crossed to eggs from an unexposed female for offspring analysis. Evaluations for nucleolar organizer region number and karyotype were performed on developing embryos to determine whether sperm aneuploidy translated into embryonic aneuploidy. Results conclusively show increased aneuploid sperm formation due to EE2 exposure. Additionally, embryonic cells from propagated progeny of individuals possessing elevated sperm aneuploidy display high levels of embryonic aneuploidy. This study concludes that EE2 exposure in sexually developing male rainbow trout increases levels of aneuploid sperm, providing a mechanism for decreased embryonic survival and ultimately diminished reproductive success in EE2 exposed males.aneuploidy ͉ EE2 ͉ xenoestrogens

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Section: Discussionmentioning

confidence: 99%

Aneuploid sperm formation in rainbow trout exposed to the environmental estrogen 17α-ethynylestradiol

Brown

Schultz

Cloud

et al. 2008

Proc. Natl. Acad. Sci. U.S.A.

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“…Defects may include structural chromosome abnormalities, such as translocations, Y chromosome microdeletions, and single or double strand DNA breaks, or numerical chromosome abnormalities, such as Klinefelter's syndrome or sperm chromosome aneuploidy [8,16,23,26]. Gene mutations and polymorphisms can affect any of the approximately 2000 proteins involved in spermatogenesis, and epigenetic alterations may also affect protein expression and activity [5,8].…”

Section: A Brief Overviewmentioning

confidence: 99%

The Genetics of Male Infertility: A Field of Study Whose Time Is Now

Carrell

Jonge

Lamb

2006

Archives of Andrology

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“…Since, however, post-meiotic cells were sparse and varied individually in their presence and ploidy among the KS patients, the results did not reach significance level and thus our deductions are restricted. Theoretically, the expected rate of aneuploidy in the setting of 47,XXY meiosis is up to 50 % [46,47]. However, the percentages of aneuploidy values in the testes of KS men reported by others reached 10-20 % [5,8,9].…”

Section: Discussionmentioning

confidence: 89%

Ploidy of spermatogenic cells of men with non-mosaic Klinefelter’s syndrome as measured by a computerized cell scanning system

Komsky-Elbaz

Raziel

Ben‐Ami

et al. 2015

J Assist Reprod Genet

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Purpose This study aims to characterize the origin of testicular post-meiotic cells in non-mosaic Klinefelter's syndrome (KS). Methods The study included testicular tissue specimens from 11 non-mosaic KS patients, with (6 positive) and without (5 negative) spermatozoa presence. The obtained testicular cells were affixed and stained for morphology followed by fluorescence in situ hybridization (FISH) for centromeric probes X, Y, and 18. We used a computerized automated cell scanning system that enables simultaneous viewing of morphology and FISH in the same cell. Results A total of 12,387 cells from the positive cases, 11,991 cells from the negative cases, and 1,711 cells from the controls were analyzed. The majority of spermatogonia were 47, XXY in both the positive and negative KS cases (88.9±4.76 % and 90.6±4.58 %) as were primary spermatocytes (76.8±8.14 % and 79.6±7.30 %). The respective rates of secondary spermatocytes and post-meiotic cells (round, elongating spermatids and sperm cells) were 1.1±1.39 % in the positive cases, 2.9±3.33 % in the negative cases, compared to 67.6±6.22 % in the controls (P<0.02). Pairing of both 18 and XY homologous chromosomes in 46,XY primary spermatocytes was 2.5 ±2.31 % and 3.4±2.39 %, respectively, compared to 19.8± 8.95 % in the control group (P<0.02) and in 47,XXY primary spermatocytes in 2.4±3.8 % in the positive group and 3.2± 2.26 % in the negative group. Conclusions This study presents data to indicate that the majority of primary spermatocytes in the testes of non-mosaic KS patients are 47,XXY and could possibly develop into postmeiotic cells.

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Mechanisms of nondisjunction in human spermatogenesis

Cited by 26 publications

References 92 publications

Aneuploid sperm formation in rainbow trout exposed to the environmental estrogen 17α-ethynylestradiol

Aneuploid sperm formation in rainbow trout exposed to the environmental estrogen 17α-ethynylestradiol

The Genetics of Male Infertility: A Field of Study Whose Time Is Now

Ploidy of spermatogenic cells of men with non-mosaic Klinefelter’s syndrome as measured by a computerized cell scanning system

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