Centromere-specific multicolour fluorescence in situ hybridization on human spermatocyte I and II metaphases

Uroz, Laia; Liehr, Thomas; Mrasek, Kristin; Templado, C.

doi:10.1093/humrep/dep092

Cited by 6 publications

(6 citation statements)

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“…Among these 17 donors, 7 were smokers (cases 1, 3, 4, 10, 14, 15, and 16), and none had been exposed to known mutagens or radiation. The frequencies of meiotic chromosome abnormalities in spermatocytes I and II from cases 1 and 2 have been described elsewhere (20) using the centromere-specific multicolor fluorescence in situ hybridization (FISH) technique, and these data have not been included in this work. The study was approved by our University and institutional ethics committees, and all donors signed an informed consent form before surgery.…”

Section: Materials and Methods Subjectsmentioning

confidence: 99%

Meiotic chromosome abnormalities in fertile men: are they increasing?

Uroz

Rajmil

Templado

2011

Fertility and Sterility

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Section: Materials and Methods Subjectsmentioning

confidence: 99%

Meiotic chromosome abnormalities in fertile men: are they increasing?

Uroz

Rajmil

Templado

2011

Fertility and Sterility

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“…Studies at these meiotic stages are scarce, owing to the difficulty of obtaining testicular tissue. Meiotic analyses carried out on fertile and infertile men described abnormal chiasma count and numerical chromosome abnormalities (Skakkebaek et al, 1973;Chandley et al, 1976;Koulischer et al, 1982;Egozcue et al, 1983;Laurie et al, 1985;Guichaoua et al, 1986;Uroz et al, 2009Uroz et al, , 2011 but they were not focused on studying non-disjunction mechanisms.…”

Section: Introductionmentioning

confidence: 99%

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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“…The information as regards the post-pubertal meiotic metaphase stages, Metaphase I (MI) and Metaphase II (MII) is also very limited. No chromosome 21 copy number changes were found by Uroz et al [ 17 ] or Uroz and Templado [ 9 ] in a total sample of 485 spermatocytes at the MI stage from five normally fertile men. Likewise, neither Laurie et al [ 18 ] nor Uroz et al [ 17 ] identified any chromosome 21 copy number changes in a total of 266 cells at the MII stage from eight men.…”

Section: Resultsmentioning

confidence: 84%

Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome

2015

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BackgroundTrisomy 21 Down syndrome is the most common genetic cause for congenital malformations and intellectual disability. It is well known that in the outstanding majority of cases the extra chromosome 21 originates from the mother but only in less than 10 % from the father. The mechanism underlying this striking difference in parental origin of Trisomy 21 Down syndrome is still unknown. However, it seems likely that the main reason is a much higher stringency in the elimination of any trisomy 21 cells during fetal testicular than ovarian development. We have here focussed attention on the paternal gametic output, i.e. the incidence of disomy 21 in spermatozoa.ResultsWe have used fluorescence in situ hybridisation (FISH) to determine the copy number of chromosome 21 in spermatozoa from 11 men with normal spermiograms. Due to the well-known risk of false positive and false negative signals using a single FISH probe, we have applied two chromosome 21q probes, and we have added a chromosome 18-specific probe to allow differentiation between disomy 21 and diploidy. Analysing a total number of 2000 spermatozoa per case, we documented an average incidence of disomy 21 at 0.13 %, with a range of 0.00-0.25 % and a SD of 0.08. There was no indication of diploidy in this cohort of 22,000 sperm.ConclusionNumerous previous studies on the incidence of disomy 21 in sperm have been published, using FISH. As far as we are aware, none of these have applied more than a single chromosome 21-specific probe. Accepting our mean of 0.13 % of disomy 21, and providing there is no selective fertilisation capability of disomy 21 sperm in relation to the normal, we conclude that around 1 in 800 conceptions is expected to be trisomic for chromosome 21 of paternal origin. Bearing in mind that the maternal origin likely is at least 10 times more common, we tentatively propose that around 1 in 80 oocytes in the maternal ovarian reserve may be disomy 21. One reason for this discrepancy may be a more stringent selection against aberrant chromosome numbers during spermatogenesis than oogenesis. Further work is required to determine the relevant stages of spermatogenesis at which such a selection may take place.

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Centromere-specific multicolour fluorescence in situ hybridization on human spermatocyte I and II metaphases

Abstract: CenM-FISH is a useful tool to study the meiotic chromosomal disorders and mechanisms leading to chromosomally abnormal spermatozoa.

Cited by 6 publications

References 20 publications

Meiotic chromosome abnormalities in fertile men: are they increasing?

Meiotic chromosome abnormalities in fertile men: are they increasing?

Meiotic non-disjunction mechanisms in human fertile males

Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome

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