Premature separation of sister chromatids in human male meiosis

Uroz, Laia; Rajmil, Osvaldo; Templado, C.

doi:10.1093/humrep/dem427

Cited by 13 publications

(12 citation statements)

References 37 publications

(40 reference statements)

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“…The frequency of PSSC is higher than that found for chromosome nondisjunction, so this mechanism of nondisjunction is considered the main cause of aneuploidy in oocytes (see article on oocyte aneuploidy in this issue). A recent study [Uroz et al, 2008] on metaphase I and II of spermatocytes and spermatozoa from 1 infertile man described, for the first time in human male meiosis, the 2 nondisjunction mechanisms found previously in meiosis I oocytes. As in oocytes, the most common type of nondisjunction observed was PSSC, detected in MII spermatocytes as 1 extra or missing chromatid affecting chromosomes 21, X and Y.…”

Section: The Origin Of Human Sperm Aneuploidymentioning

confidence: 82%

Aneuploidy in Human Spermatozoa

Templado

Vidal

Estop

2011

Cytogenet Genome Res

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101

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We reviewed the frequency and distribution of disomy in spermatozoa obtained by multicolor-FISH analysis on decondensed sperm nuclei in (a) healthy men, (b) fathers of aneuploid offspring of paternal origin and (c) individuals with Klinefelter syndrome and XYY males. In series of healthy men, disomy per autosome is approximately 0.1% but may range from 0.03 (chromosome 8) to 0.47 (chromosome 22). The great majority of authors find that chromosome 21 (0.18%) and the sex chromosomes (0.27%) have significantly elevated frequencies of disomy although these findings are not universal. The total disomy in FISH studies is 2.26% and the estimated aneuploidy (2× disomy) is 4.5%, more than double that seen in sperm karyotypes (1.8%). Increased disomy levels of low orders of magnitude have been reported in spermatozoa of some normal men (stable variants) and in men who have fathered children with Down, Turner and Klinefelter syndromes. These findings suggest that men with a moderately elevated aneuploidy rate may be at a higher risk of fathering paternally derived aneuploid pregnancies. Among lifestyle factors, smoking, alcohol and caffeine have been studied extensively but the compounding effects of the 3 are difficult to separate because they are common lifestyle behaviors. Increases in sex chromosome abnormalities, some autosomal disomies, and in the number of diploid spermatozoa are general features in 47,XXY and 47,XYY males. Aneuploidy of the sex chromosomes is more frequent than aneuploidy of any of the autosomes not only in normal control individuals, but also in patients with sex chromosome abnormalities and fathers of paternally derived Klinefelter, Turner and Down syndromes.

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Section: The Origin Of Human Sperm Aneuploidymentioning

confidence: 82%

Aneuploidy in Human Spermatozoa

Templado

Vidal

Estop

2011

Cytogenet Genome Res

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101

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“…This non-disjunction mechanism is common in human oocytes (Pellestor et al, 2006;Jones, 2008 24,X,Y,2II(21),+I (21) 22,Y,chtb (7),28,+8cht,+8cht,chtb (8) 23,X,Y,2II(6),+ace(10),2II(21),+I (21) group in human male meiosis in an infertile man (Uroz et al, 2008). According to our data, chromosomes X, Y and 21 are the most commonly affected by PSSC in MII spermatocytes and correspond to those frequently found as separated univalents at MI.…”

Section: Non-disjunction Mechanisms In Meiosis Imentioning

confidence: 97%

“…Testicular biopsy was obtained under local anesthesia during a vasectomy procedure and meiotic cells were fixed according to the protocol previously described by our group (Uroz et al, 2008). Meiotic chromosome preparations were preserved at 2208C until M-FISH hybridization.…”

Section: Spermatocyte Spreadingmentioning

confidence: 99%

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Meiotic non-disjunction mechanisms in human fertile males

Uroz

Templado

2012

Human Reproduction

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background: In humans, little is known about the mechanisms of non-disjunction working in male meiosis, although considerable attention has been given to these mechanisms in female meiosis. The present study explores the origin of meiotic non-disjunction during human spermatogenesis and the chromosomes most commonly involved in this process. methods:We used Multiplex fluorescence in situ hybridization to carry out meiotic analyses in metaphase I (MI) and metaphase II (MII) spermatocytes from three fertile donors. Testicular biopsy was obtained during a vasectomy procedure.results: We examined a total of 317 MI and 248 MII spermatocytes. The frequency of numerical chromosome abnormalities at MII (14.5%) was 5.5 times higher than at MI (2.5%). We observed 88 (27.7%) spermatocytes I with chromosome bivalents with a low chiasma count, usually small chromosomes displaying two separated univalents. Chromosomes X, Y and 21 were the most commonly found as achiasmate chromosomes at MI and the most frequently involved in disomy at MII. Hyperploidy frequency in spermatocytes II (disomy) was significantly higher (P , 0.001) than that found in spermatocytes I (trisomy).conclusions: Achiasmate non-disjunction and premature separation of sister chromatids appear to be the two main non-disjunction mechanisms during the first meiotic division in human spermatogenesis, and both mechanisms contribute equally to the genesis of aneuploidy. The elevated frequencies of disomy detected in spermatocytes II are significantly higher than those previously described in human spermatozoa, suggesting the existence of a postmeiotic checkpoint monitoring numerical abnormalities.

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“…Meiotic cells were fixed using the air-drying technique (21) with minor modifications (22). Meiotic chromosome preparations were preserved at À20 C until 4 0 ,6-diamidino-2-phenylindole (DAPI) stain.…”

Section: Spermatocyte Preparationmentioning

confidence: 99%