PNA on human sperm: a new approach for in situ aneuploidy estimation

Pellestor, Franck; Andréo, Brigitte; Taneja, Krihan; Williams, Brett

doi:10.1038/sj.ejhg.5200958

Cited by 27 publications

(19 citation statements)

References 20 publications

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“…48 This adaptation constituted an interesting challenge because of the particularities of human spermatozoa nuclei in terms of genomic compaction and accessibility of DNA sequences. Comparative estimates of disomies X, Y and 1 were performed in sperm from healthy subjects using FISH, PRINS and PNA procedures in parallel.…”

Section: Antisense and Antigene Applicationsmentioning

confidence: 99%

The peptide nucleic acids (PNAs), powerful tools for molecular genetics and cytogenetics

2004

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Peptide nucleic acids (PNAs) are synthetic mimics of DNA in which the deoxyribose phosphate backbone is replaced by a pseudo-peptide polymer to which the nucleobases are linked. PNAs hybridize with complementary DNAs or RNAs with remarkably high affinity and specificity, essentially because of their uncharged and flexible polyamide backbone. The unique physico-chemical properties of PNAs have led to the development of a variety of research assays, and over the last few years, the use of PNAs has proven their powerful usefulness in molecular biology procedures and diagnostic assays. The more recent applications of PNA involve their use as molecular hybridization probes. Thus, several sensitive and robust PNA-dependent methods have been designed for developing antigene and anticancer drugs, modulating PCR reactions, detecting genomic mutation or labelling chromosomes in situ.

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Section: Antisense and Antigene Applicationsmentioning

confidence: 99%

The peptide nucleic acids (PNAs), powerful tools for molecular genetics and cytogenetics

2004

Self Cite

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“…The cytogenetic analysis of human oocytes has clearly shown a direct relationship between advancing maternal age and increasing aneuploidy rates. Specifically, such studies suggest that the expected aneuploidy rate in the oocytes of women under 25 years is 5%, increasing to 10-25% in the early 30s, and typically exceeding 50% in women over 40 [Sandalinas et al, 2002;Kuliev et al, 2003;Pellestor et al, 2003;Hassold et al, 2007;Fragouli et al, 2009Fragouli et al, , 2010a.…”

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confidence: 99%

Chromosome Abnormalities in the Human Oocyte

Fragouli

Wells

Delhanty

2011

Cytogenet Genome Res

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Aneuploidy is the most commonly occurring type of chromosome abnormality and the most significant clinically. It arises mostly due to segregation errors taking place during female meiosis and is also closely associated with advancing maternal age. Two main aneuploidy-causing mechanisms have been described: the first involves the non-disjunction of entire chromosomes and can take place during both meiotic divisions, whereas the second involves the premature division of a chromosome into its 2 sister chromatids, followed by their random segregation, upon completion of meiosis I. To elucidate the causal mechanisms of maternally derived aneuploidy and the manner with which they affect the 2 meiotic divisions, a large number of oocytes and their corresponding polar bodies have been examined. Various classical and molecular cytogenetic methods have been employed for this purpose, and valuable data have been obtained. Moreover, research into the gene expression patterns of oocytes according to maturity, maternal age, and chromosome status has provided a unique insight into the complex nature of the biological processes and genetic pathways regulating female meiosis. Findings obtained from the cytogenetic and molecular analysis of oocytes will be reviewed in this article.

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“…They were then dehydrated in a series of increasing concentrations of ethylene alcohol (70%, 85%, and 100%) for 2 min each. Sperm decondensation and denaturation was completed by incubation of slides with 0.5M NaOH at room temperature for 4 min [Pellestor et al 2003]. Sperm aneuploidy was assessed with the AneuVysion Multicolour DNA Probe Kit (Vysis CEP 18/X, Y -alpha satellite/LSI 13/21) (Abbott Laboratories, Abbott Park, IL, USA) following the manufacturer's instructions.…”

Section: Selection Of Subjectsmentioning

confidence: 99%

A comparison of ejaculated and testicular spermatozoa aneuploidy rates in patients with high sperm DNA damage

Moskovtsev¹,

Alladin²,

Lo³

et al. 2012

Systems Biology in Reproductive Medicine

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Testicular spermatozoa are utilized to achieve pregnancy in couples with severe male factor infertility. Several studies suggest that aneuploidy rates in spermatozoa are elevated at the testicular level in infertile patients compared to ejaculates of normal controls. However, essential data regarding aneuploidy rates between ejaculated and testicular spermatozoa in the same individuals is lacking. The purpose of our study was to compare aneuploidy rates at the testicular and post-testicular level from the same patients with persistently high sperm DNA damage. Ejaculates and testicular biopsies were obtained from eight patients with persistently high DNA damage (>30%). Both ejaculated and testicular samples were analyzed for sperm DNA damage and sperm aneuploidy for chromosomes 13, 18, 21, X, and Y. In addition, semen samples from ten normozoospermic men presenting for fertility evaluation served as a control group. A strong correlation between the alteration of spermatogenesis and chromatin deterioration was observed in our study. In the same individuals, testicular samples showed a significantly lower DNA damage compared to ejaculated spermatozoa (14.9% ± 5.0 vs. 40.6% ± 14.8, P < 0.05), but significantly higher aneuploidy rates for the five analyzed chromosomes (12.41% ± 3.7 vs. 5.77% ± 1.2, P < 0.05). While testicular spermatozoa appear favourable for ICSI in terms of lower DNA damage, this potential advantage could be offset by the higher aneuploidy rates in testicular spermatozoa.

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PNA on human sperm: a new approach for in situ aneuploidy estimation

Cited by 27 publications

References 20 publications

The peptide nucleic acids (PNAs), powerful tools for molecular genetics and cytogenetics

The peptide nucleic acids (PNAs), powerful tools for molecular genetics and cytogenetics

Chromosome Abnormalities in the Human Oocyte

A comparison of ejaculated and testicular spermatozoa aneuploidy rates in patients with high sperm DNA damage

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