Gender effects on the incidence of aneuploidy in mammalian germ cells

Pacchierotti, Francesca; Adler, I.‐D.; Eichenlaub-Ritter, Ursula; Mailhes, John B.

doi:10.1016/j.envres.2006.12.001

Cited by 78 publications

(50 citation statements)

References 328 publications

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“…In this regard, it has been reported that exposure to environmental chemicals may exaggerate the occurrence of aneuploidies in females. 18 Thus, the environmental factor might be relevant to the recent increase of TR/GC (M1) group, although it is unlikely that this factor constitutes the major cause of the increased TR/GC (M1) type upd(15)mat. In males, whereas it has been reported that exposure to chemical materials might facilitate the occurrence of PWS, the relative frequency of genetic causes remained unchanged in PWS patients born to such males.…”

Section: Discussionmentioning

confidence: 99%

Maternal age effect on the development of Prader–Willi syndrome resulting from upd(15)mat through meiosis 1 errors

et al. 2011

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Prader-Willi syndrome (PWS) is primarily caused by deletions involving the paternally derived imprinted region at chromosome 15q11.2-q13 and maternal uniparental disomy 15 (upd(15)mat). The underlying mechanisms for upd(15)mat include trisomy rescue (TR), gamete complementation (GC), monosomy rescue and post-fertilization mitotic error, and TR/GC is mediated by non-disjunction at maternal meiosis 1 (M1) or meiosis 2 (M2). Of these factors involved in the development of upd (15)mat, M1 non-disjunction is a maternal age-dependent phenomenon. We studied 117 Japanese patients with PWS and identified deletions in 84 patients (Deletion group) and TR/GC type upd(15)mat through M1 non-disjunction in 15 patients (TR/GC (M1) group), together with other types of abnormalities. Maternal age was significantly higher in TR/GC (M1) group than in Deletion group (median (range), 37 (35-45) versus 30 (19-42); P¼1.0Â10 À7 ). Furthermore, delayed childbearing age became obvious since the year 2003 in Japan, and relative frequency of TR/GC (M1) group was significantly larger in patients born since the year 2003 than in those born until the year 2002. The results imply that the advanced maternal age at childbirth is a predisposing factor for the development of upd(15)mat because of increased M1 errors.

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Section: Discussionmentioning

confidence: 99%

Maternal age effect on the development of Prader–Willi syndrome resulting from upd(15)mat through meiosis 1 errors

et al. 2011

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“…Since mammalian fertility is strongly affected by chromosomal abnormalities, which are responsible for nearly 70% of the embryonic mortality in humans [Hassold, 1998] as well as in domestic animals [King, 1990;Vanroose et al, 2000], further studies of germ cells (sperm and oocytes) should be implemented in order to better understand the genetic causes of aneuploidies and their impact on the reproductive and productive efficiency of domestic animals. Several studies [for a review, see Pacchierotti et al, 2007] showed that chemical substances, commonly used in medicine and agriculture (drug and pesticide) or present in the environment as pollutant, can increase the frequencies of germ cell aneuploidy in human and mouse. Domestic animals are often exposed to such substances through the farming environment or feedstuff; and the sperm-FISH assay can represent a useful tool to allow the identification of chemicals that can negatively affect the animal's health, thus reducing its reproductive efficiency.…”

Section: Discussionmentioning

confidence: 99%

X-Y Sperm Aneuploidy in 2 Cattle <i>(Bos taurus)</i> Breeds as Determined by Dual Color Fluorescent in situ Hybridization (FISH)

Nicodemo

Pauciullo²,

Castello³

et al. 2009

Cytogenet Genome Res

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The present study was undertaken to investigate aneuploidy rates in the sperm populations of 2 cattle (Bos taurus) breeds by using dual color fluorescent in situ hybridization (FISH) with Xcen and Y chromosome-specific painting probes, obtained by chromosome microdissection and DOP-PCR. Frozen semen from 10 Italian Friesian and 10 Italian Brown testing bulls was used for the investigation. For each bull, more than 5,000 sperm were analyzed, for a total of 52,586 and 51,342 sperm cells for the 2 breeds, respectively. The present study revealed – in both breeds – a preponderance of the Y-bearing sperm compared to the X-bearing sperm. Within each breed, a statistically significant variation in the various classes of aneuploidy (XX, YY and XY) was found: differences were found in the Friesian breed among the 3 diploidy classes, and in the Brown breed, among the 3 disomy classes (p < 0.05) as well as among the 3 diploidy classes (p < 0.01). However, the 2 breeds did not differ significantly in the overall mean rates of X-Y aneuploidy (disomy + diploidy) which amounts to 0.162% in the Italian Friesian and 0.142% in the Italian Brown. When meiosis I (MI) and II (MII) errors were compared, statistically significant differences (p < 0.01) were found in the disomy classes and in both breeds, whereas the differences between diploidy classes were not significant. Compared to humans, a lower level of aneuploidy has been found in the domestic species analyzed so far. The present study contributes to the establishment of a baseline level of aneuploidy in the sperm populations of 2 cattle breeds which could be used for monitoring future trends of reproductive health, especially in relation to environmental changes and mutagens.

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“…Moreover, high frequencies of diploidy and disomy were associated with environmental exposure and lifestyle habits. 49 It is important to emphasize the marked geographical differences in the last secular trend in male reproductive function. [50][51][52] The explanation for this regional trend is not known.…”

Section: Contribution Of Environmental Factorsmentioning

confidence: 99%

Decline of semen quality among 10 932 males consulting for couple infertility over a 20-year period in Marseille, France

Geoffroy-Siraudin¹,

Loundou²,

Romain³

et al. 2012

Asian J Androl

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Semen from 10 932 male partners of infertile couples was analysed and sperm parameter trends were evaluated at the Reproduction Biology Laboratory of the University Hospital of Marseille (France) between 1988 and 2007. After 3-6 days of abstinence, semen samples were collected. Measurements of seminal fluid volume, pH, sperm concentration, total sperm count, motility and detailed morphology of spermatozoa were performed. Sperm parameters were analysed on the entire population and in men with normal total numeration (o40 million per ejaculate). The whole population demonstrated declining trends in sperm concentration (1.5% per year), total sperm count (1.6% per year), total motility (0.4% per year), rapid motility (5.5% per year) and normal morphology (2.2% per year). In the group of selected samples with total normal sperm count, the same trends of sperm quality deterioration with time were observed. Our results clearly indicate that the quality of semen decreased in this population over the study period. Keywords: environment; male infertility; regional differences; semen quality; sperm parameters INTRODUCTION Numerous studies suggest a decline in semen quality in some parts of the world. 1-8 By contrast, other studies have shown no evidence of deteriorating semen quality. 9-16 Some studies concern infertile couples, while others analyse normal sperm parameters. Thus, a worldwide decreasing trend in semen parameter values can be neither confirmed nor rejected. 17 It was recently reported that fecundity is affected by this decrease. 18,19 It was speculated that decreasing sperm parameters are in response to adverse environmental factors. Nevertheless, the observed discrepancies between studies suggest regional differences in semen quality. [20][21][22] Variations in environmental factors, industrial pollution and/or lifestyle could explain these discrepancies. A large number of environmental factors can pollute air, drinking water and food. This can directly alter the male gonad by blood-testis barrier disruption and cellular toxicity, or disrupt androgen biosynthesis and action. Among these environmental factors, oestrogenic or anti-androgenic endocrine disrupting compounds inhibit critical cellular process controlling steroidogenesis in Leydig cells and androgen binding to the androgen receptor. 23 It has been hypothesized that endocrine disrupting compounds play a major role in the aetiology of increased incidence of testicular dysgenesis syndrome which gathers decreased quality of semen, cryptorchidism, hypospadias and testicular cancer. 24 Chemicals with hormone-like activity can also

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Gender effects on the incidence of aneuploidy in mammalian germ cells

Cited by 78 publications

References 328 publications

Maternal age effect on the development of Prader–Willi syndrome resulting from upd(15)mat through meiosis 1 errors

Maternal age effect on the development of Prader–Willi syndrome resulting from upd(15)mat through meiosis 1 errors

X-Y Sperm Aneuploidy in 2 Cattle <i>(Bos taurus)</i> Breeds as Determined by Dual Color Fluorescent in situ Hybridization (FISH)

Decline of semen quality among 10 932 males consulting for couple infertility over a 20-year period in Marseille, France

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