Cytogenetic studies in human sperm

Estop, A.; Cieply, Kathleen; Vankirk, V.; Munné, Santiago; Garver, Kenneth L.

doi:10.1007/bf00197166

Cited by 33 publications

(44 citation statements)

References 15 publications

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“…Unfortunately, the specific type of structural aberrations found could not be determined because the multicolour FISH technique in spermheads cannot discriminate among these aberrations. Despite what has previously been stated above, the excess of the duplications of 9q observed here could reflect an excess of acentric fragments in sperm, as described in studies of human sperm karyotypes, both in controls 20,21,24 and aged series. 7,8 Among sperm carrying chromosome 9 structural aberrations, a significant increase was found of sperm without a sex chromosome (assumed as an Xbearing sperm) compared with sperm bearing a Y chromosome (P ¼ 0.042).…”

Section: Discussioncontrasting

confidence: 77%

“…Chromosome 9 was chosen because of its high incidence of breaks shown in somatic cells and spermatozoa. 20,21 We also investigated whether chromosome 9 structural or numerical abnormalities influenced by donor age were more likely to occur in X-or Y-bearing sperm. We found increased frequencies of all types of structural chromosome 9 aberrations analysed (deletions and duplications of the 9cen and 9q regions) with regard to age.…”

Section: Discussionmentioning

confidence: 99%

“…Chromosomes 1, 9,10 6, 11 8, 12 9, 13 12, 9 13, 10 14, 14 18,13,15,16 21,10,11,14 and the sex chromosomes 9,11-13,15-17 have been investigated for an age effect, with seven of nine studies analysing sex chromosome aneuploidies. No age effect was observed in the disomy frequencies for chromosomes 6, 8, 9, 12, 13, 14, and controversial results were reported for chromosomes 1, 21, the sex chromosomes, and diploidy.…”

Section: Introductionmentioning

confidence: 99%

“…19 Furthermore, this chromosome is more represented in unrejoined breakage events than expected by chance in human sperm complements. 20,21 To our knowledge, no FISH studies regarding the effect of age on structural aberrations of chromosome 9 in sperm have been performed, and only one recent sperm study 13 has been carried out to determine the incidence of numerical aberrations for chromosome 9 in relation to age using this technique.…”

Section: Introductionmentioning

confidence: 99%

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Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

et al. 2003

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A simultaneous four-colour fluorescence in situ hybridisation (FISH) assay was used in human sperm in order to search for a paternal age effect on: (1) the incidence of structural aberrations and aneuploidy of chromosome 9, and (2) the sex ratio in both normal spermatozoa and spermatozoa with a numerical or structural abnormality of chromosome 9. The sperm samples were collected from 18 healthy donors, aged 24 -74 years (mean 48.8 years old). Specific probes for the subtelomeric 9q region (9qter), centromeric regions of chromosomes 6 and 9, and the satellite III region of the Y chromosome were used for FISH analysis. A total of 190 117 sperms were evaluated with a minimum of 10 000 sperm scored from each donor. A significant linear increase in the overall level of duplications and deletions for the centromeric and subtelomeric regions of chromosome 9 (Pr0.002), chromosome 9 disomy (Po0.0001) as well as diploidy (Po0.0001) was detected in relation to age. The percentage of increase for each 10-year period was 29% for chromosome 9 disomy, 18.8% for diploidy, and ranged from 14.6 to 28% for structural aberrations. Our results indicate a linear increase in structural aberrations and disomy for chromosome 9 in sperm with respect to age.

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Section: Discussioncontrasting

confidence: 77%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

et al. 2003

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“…Two general approaches have been developed to directly measure frequency of aneuploidy in spermatozoa: (i) cytogenetic analysis of the sperm's whole chromosome complement following penetration of sperm from a xenotropic species into zona-free hamster oocytes (1)(2)(3)(4) and (ii) in situ hybridization to sperm cells (5). The first technique is tedious, technically difficult, and limited by the number of hamster oocytes that can be fertilized for any single analysis.…”

mentioning

confidence: 99%

Detection of nondisjunction and recombination in meiotic and postmeiotic cells from XYSxr [XY,Tp(Y)1Ct] mice using multicolor fluorescence in situ hybridization.

Ashley

Ried

Ward

1994

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

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Current meiotic dogma holds that synapsis is required for recombination and that recombination is required for proper disjunction. The mouse chromosome aberration XYsxr [sex reversal; redesignated XY,Tp(Y)lCt] appears to challenge this assumption, for although chromosomes X and Y often fail to synapse and recombine, there is no dramatic increase in aneuploid progeny. An explanation of this conundrum might be that X-Y univalent spermatocytes do not survive. The phenotype of sex reversal is generated by the "obligatory" crossover between the X and Y chromosomes, which always occurs proximal to a duplicated copy of the testis-determining gene Sry and transfers one copy from one chromatid of the Y chromosome to one chromatid of the X.Animals that inherit an X chromosome with the Sry gene are chromosomaily female but phenotypically male. We have used fluorescence in situ hybridization (FISH) to visualize probes for the X and Y chromosomes and for the Siy sequence and chromosome 8 to track the fate of both recombinant and nonrecombinant chromosomes through metaphases I and II into spermatids and sperm. In the 219 gametes examined by multicolor FISH, the frequency of aneuploid products (XY or "0") was low (3.7%) despite a high frequency (66%) of X-Y separation at metaphase I. In balanced gametes, X and Y recombinant chromosomes slightly exceeded nonrecombinants. Both of these observations support the earlier proposal that asynapsis and nondisjunction in primary spermatocytes lead to their developmental arrest and degeneration.Aneuploidy arising from meiotic missegregation is the primary cause of numerical chromosome abnormalities. Two general approaches have been developed to directly measure frequency of aneuploidy in spermatozoa: (i) cytogenetic analysis of the sperm's whole chromosome complement following penetration of sperm from a xenotropic species into zona-free hamster oocytes (1-4) and (ii) in situ hybridization to sperm cells (5). The first technique is tedious, technically difficult, and limited by the number of hamster oocytes that can be fertilized for any single analysis. Until now, in situ hybridization studies, whether isotopic (6) or nonisotopic (5, 7), have been limited to the detection of one or at most two chromosome markers, thus severely limiting utility of this procedure. However, the recent introduction of multicolor in situ hybridization methods (8, 9) has greatly increased the potential usefulness of in situ hybridization for studying aneuploidy in spermatozoa.Meiotic synapsis is generally considered necessary to bring homologous DNA into close enough register for recombination to occur. Normal disjunction at anaphase I depends upon the production of at least one chiasma (the cytologicalThe publication costs of this article were defrayed in part by page charge payment. This article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. §1734 solely to indicate this fact.consequence of meiotic recombination) per bivalent (pair of synapsed chromosomes) to facilitate...

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Mechanisms and consequences of paternally‐transmitted chromosomal abnormalities

Marchetti

Wyrobek

2005

Birth Defects Research Pt C

119

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Paternally transmitted chromosomal damage has been associated with pregnancy loss, developmental and morphological defects, infant mortality, infertility, and genetic diseases in the offspring including cancer. There is epidemiological evidence linking paternal exposure to occupational or environmental agents with an increased risk of abnormal reproductive outcomes.There is also a large body of literature on germ cell mutagenesis in rodents showing that treatment of male germ cells with mutagens has dramatic consequences on reproduction producing effects such as those observed in human epidemiological studies. However, we know very little about the etiology, transmission and early embryonic consequences of paternallyderived chromosomal abnormalities. The available evidence suggests that: 1) there are distinct patterns of germ cell-stage differences in the sensitivity of induction of transmissible genetic damage with male postmeiotic cells being the most sensitive; 2) cytogenetic abnormalities at first metaphase after fertilization are critical intermediates between paternal exposure and abnormal reproductive outcomes; and, 3) there are maternally susceptibility factors that may have profound effects on the amount of sperm DNA damage that is converted into chromosomal aberrations in the zygote and directly affect the risk for abnormal reproductive outcomes.

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Cytogenetic studies in human sperm

Cited by 33 publications

References 15 publications

Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

Detection of nondisjunction and recombination in meiotic and postmeiotic cells from XYSxr [XY,Tp(Y)1Ct] mice using multicolor fluorescence in situ hybridization.

Mechanisms and consequences of paternally‐transmitted chromosomal abnormalities

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