Stable dicentric duplication‐deficiency chromosome 14 resulting from crossing‐over within a maternal paracentric inversion

Lefort, Geneviève; Blanchet, P.; Belgrade, Nabia; Rivier, François; Chaze, Anne-Marie; Sarda, Pierre; Demaille, Jacques; Pellestor, Franck

doi:10.1002/ajmg.b.10720

Cited by 11 publications

(8 citation statements)

References 16 publications

(20 reference statements)

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“…Nevertheless, some cases of recombinant offspring from these carriers have been described (reviewed by Pettenati et al, 1995;Yang et al, 1997;Courtens et al, 1998;Whiteford et al, 2000;Lefort et al, 2002).…”

Section: Inversion Carriers' Progenymentioning

confidence: 99%

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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Section: Inversion Carriers' Progenymentioning

confidence: 99%

Sperm studies in heterozygote inversion carriers: a review

Antón

Blanco

Egozcue

et al. 2005

Cytogenet Genome Res

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“…If an odd number of crossovers occur within the loop, recombinant chromosomes can be produced, leading to duplications or deletions of p-arm or q-arm fragments located outside the inversion [Morel et al, 2007]. Depending on the nature (size and genetic content) of the duplicated/deleted regions, unbalanced gametes can be responsible for early miscarriages, stillbirth, or congenital abnormalities [Madan, 1995;Lefort et al, 2002].…”

mentioning

confidence: 99%

Male Meiotic Segregation Analyses of Peri- and Paracentric Inversions in the Pig Species

Massip

Bonnet²,

Calgaro³

et al. 2009

Cytogenet Genome Res

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Inversions are well-known structural chromosomal rearrangements in humans and pigs. Such rearrangements generally have no effect on the carriers’ phenotype. However, the presence of an inversion can lead to spermatogenesis impairments and to the production of unbalanced (recombinant) gametes, responsible for early miscarriages, stillbirth, or congenital abnormalities. Sperm samples from boars heterozygote for pericentric inv(2)(p1.1;q1.1), inv(2) (p1.1;q2.1), inv(1)(p2.1;q2.10), or inv(1)(p2.4;q2.9), as well as for paracentric inv(2)(q1.3;q2.5) or inv(1)(q1.2;q2.4) were analyzed using sperm FISH (fluorescent in situ hybridization on decondensed sperm heads) to determine the male meiotic segregation profiles of the rearrangements. Furthermore, the availability of sperm samples for 2 unrelated carriers of inv(2)(p1.1;q1.1) allowed us to check for the occurrence of inter-individual variability of the rates of unbalanced meiotic products for this rearrangement. The estimated proportions of recombinant gametes were very low for all the inversions studied (0.62%, 1.30%, 3.05%, 1.27%, 4.12% and 0.84%, respectively), albeit significantly higher than the control. The rearrangements should therefore have very little impact on the reproductive performance of the carriers. No difference was found between the 2 carriers of inv(2)(p1.1;q1.1), suggesting a lack of inter-individual variability for this rearrangement. Overall, no significant correlation was found between the sizes of the inverted fragments and the proportions of recombinant (unbalanced) gametes for the 6 inversions studied. This is in contradiction with most human results. Further studies (pairing and recombination analysis using immunostaining techniques) should be carried out to elucidate the origin of such an inter-species difference.

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“…Ces résultats semblent confirmer le caractère anodin de ces remaniements qui pourraient être assimilés à des variants chromosomiques, à l'exception des chromosomes 9, 18 et 14, pour lesquels des chromosomes dicentriques issus d'inversions paracentriques ont été observés à terme [32].…”

Section: Inversions Paracentriquesunclassified

Anomalies génétiques et infertilité masculine

Vialard

Mandon‐Pepin

Pellestor

et al. 2009

Basic Clin. Androl.

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Environ 15 % des couples sont confrontés à une infertilité. Dans la moitié des cas, la cause est masculine. Quatre-vingt-dix pour cent des causes d'infertilité chez l'homme ne sont toujours pas élucidées, certaines seraient dues à des causes génétiques ou environnementales ou les deux, impliquant alors des gènes de susceptibilité à caractériser. Les anomalies génétiques ont été recherchées par trois approches : 1) cytogénétique, surtout grâce au progrès de la cytogénétique moléculaire et l'analyse directe des gamètes par la technique d'hybridation moléculaire in situ. La découverte d'une anomalie chromosomique, cause la plus fréquente des infertilités (y compris la délétion de l'Y), ne permet pas facilement de faire la distinction entre une anomalie génique impliquée dans le remaniement et une anomalie mécanique intrinsèque de la méiose ; 2) l'analyse de gènes candidats utilise souvent les données obtenues dans les modèles animaux et principalement murins. Cette approche, très souvent utilisée dans la littérature, s'avère souvent longue, coûteuse et l'on découvre rarement une anomalie génique ; c'est le cas par exemple des gènes de méiose ; 3) l'approche mendélienne est évidemment l'approche de choix, en étudiant les cas familiaux d'infertilité qui sont plus fréquents que nous le pensons. Mots clés Infertilité masculine · Chromosome Y · Cytogénétique · Famille avec infertilitéAbstract Fifteen percent of couples are infertile and in about 50% of cases the cause is of male origin. The aetiology is still unknown in more than 90% of cases and there may be genetic or environmental causes. Three approaches are used to detect genetic causes for male infertility: 1) cytogenetics, resulting in particular from progress made in molecular cytogenetics and the direct analysis of gametes by in situ molecular hybridation techniques. When a chromosome anomaly, the most common cause of infertility, including deletion of the Y chromosome, is discovered, it is not easy to distinguish between gene anomalies resulting from change and mechanical anomalies that are an integral part of meiosis; 2) the analysis of candidate genes, which often uses data obtained from animal, usually murine, models. This approach, frequently described in the literature, tends to be lengthy, expensive and rarely results in the discovery of an abnormal gene, as is the case, for example, with meiotic genes; 3) Mendel's approach is clearly the preferred choice, studying as it does cases of inherited infertility, which is much more widespread than we might think.

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Stable dicentric duplication‐deficiency chromosome 14 resulting from crossing‐over within a maternal paracentric inversion

Cited by 11 publications

References 16 publications

Sperm studies in heterozygote inversion carriers: a review

Sperm studies in heterozygote inversion carriers: a review

Male Meiotic Segregation Analyses of Peri- and Paracentric Inversions in the Pig Species

Anomalies génétiques et infertilité masculine

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