Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin

Amiel, Aliza; Sardos-Albertini, Federica; Fejgin, Moshe D.; Sharony, Reuven; Diukman, Rony; Bartoov, B.

doi:10.1007/s100380170073

Cited by 42 publications

(37 citation statements)

References 29 publications

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“…30,31 Differences of length of the C-heterochromatin of the two 9 chromosomes increase the risk for uneven pairing during meiosis I and, consequently, for meiotic nondisjunction. 32,33 The frequencies of disomy, diploidy and structural chromosome abnormalities, at least for the chromosomes studied, show a high trend to increase with each 10-year interval, ranging from 12.4 to 29.0%. The highest rate of increase corresponds to disomy 9.…”

Section: Discussionmentioning

confidence: 90%

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: Discussionmentioning

confidence: 90%

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

et al. 2003

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“…The observation of an influence from structural chromosome reorganizations in the segregation of other chromosome pairs has been described by several authors in many works (Rousseaux et al, 1995a, b;Van Hummelen et al, 1997;Blanco et al, 2000;Amiel et al, 2001;Morel et al, 2001aMorel et al, , b, 2004Oliver-Bonet et al, 2001Baccetti et al, 2003;Anton et al, 2004). This phenomenon is called interchromosomal effect (Lejeune, 1963) and has been related to the presence of unpaired regions in the reorganized chromosomes which can interfere with other bivalents.…”

Section: Interchromosomal Effectsmentioning

confidence: 99%

“…All of these features make heterochromatic regions a candidate to associate with other unpaired regions of the genome through heterosynapsis during the development of the meiotic process, thus disturbing the normal segregation of the affected chromosomes. Therefore, in the case described by Amiel et al (2001), the polymorphic heterochromatic region included in the inversion could play an important role.…”

Section: Interchromosomal Effectsmentioning

confidence: 99%

“…Few studies have evaluated a possible ICE occurrence in inversion carriers by FISHing decondensed sperm nuclei (Colls et al, 1997;Amiel et al, 2001;Anton et al, 2002;MikhaailPhilips et al, 2004), and only Amiel et al (2001) have described increases in the disomy frequencies for the chromosomes analyzed. It has to be noted that this reorganization (inv(9)), besides being considered as a polymorphism, involves a large heterochromatic region.…”

Section: Interchromosomal Effectsmentioning

confidence: 99%

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Sperm studies in heterozygote inversion carriers: a review

Antón

Blanco

Egozcue

et al. 2005

Cytogenet Genome Res

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The risk of producing unbalanced gametes in heterozygous inversion carriers mostly depends on the occurrence of recombination events within the inverted segment. Recombination determines the possibility of producing chromosomes with duplications/deficiencies (pericentric inversions) or with duplications/deficiencies which furthermore appear as dicentric and acentric fragments (paracentric inversions). In this work, a general description of the close relationship between the occurrence of crossovers in pericentric and paracentric inversions and the final segregation outcome is presented. After this introduction, a compilation of inversion segregation data and interchromosomal effect results from previously published sperm studies have been reviewed. Segregation results indicate a great heterogeneity in the percentage of unbalanced gametes, from 0 to 37.38%. The size of the inverted segments and their proportion in the chromosome are two parameters closely related with the incidence of recombination (P < 0.0001; using a quadratic model and Pearson’s correlation test). These results suggest that the production of a significant level of unbalanced gametes would require a minimum inversion size of 100 Mbp and the inversion of at least 50% of the chromosome. Interchromosomal effects are seldom observed in chromosomal inversions. Finally, implications of the meiotic behavior of the inversions in the progeny of the carriers and the incorporation of sperm FISH segregation analysis for reproductive genetic counseling are discussed.

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“…In a relatively long inversion segment, synapsis usually occurs and the physical length of the segment increases the chances of a cross-over and recombinant chromosomes. In these gametes, the duplication/deletion segments resulting from an odd number of cross-overs are small and, thus, the resultant fetus may be viable until term (Amiel et al 2001;Anton et al 2002;Kaiser 1984;Winsor et al 1978).…”

Section: Introductionmentioning

confidence: 98%

Unusual segregation products in sperm from a pericentric inversion 17 heterozygote

et al. 2005

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Chromosome segregation and interchromosomal effect were studied in spermatozoa from a carrier of a pericentric chromosome 17 inversion, 46,XY,inv(17)(p13.1q25.3). Sperm chromosome segregation, lymphocytes of the inversion carrier, and cells from his offspring were analysed by multicolour fluorescence in situ hybridization. The frequency of balanced sperm was 73%. An unusual segregation of recombinants was observed, viz. deletion of the p arm (14.6%) or duplication of the p arm with the presence of one q arm (8.4%), instead of the expected recombinants, viz. duplication of one arm with deletion of the other and vice versa. These unusual recombinants were explained by the position of the 17q breakpoint, which was between the q arm telomere-associated repeats and the unique q subtelomere region. The offspring of the donor were found to have a 17p deletion including the Miller-Dieker critical region, similar to the most frequent recombinant sperm class. The disomy frequency was significantly increased for chromosome 17 compared with other autosomes, suggesting that pairing and recombination of the inversion may predispose to non-disjunction. There was no significant difference between the frequencies of aneuploidy for chromosomes 13, 21, X and Y in the chromosome inversion heterozygote compared with controls. Thus, this unique pericentric inversion of chromosome 17 produces unusual recombinant products; no evidence was apparent of an interchromosomal effect in any of the tested chromosomes.

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Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin

Cited by 42 publications

References 29 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

Sperm studies in heterozygote inversion carriers: a review

Unusual segregation products in sperm from a pericentric inversion 17 heterozygote

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