The Largest Paracentric Inversion, The Highest Rate Of Recombinant Spermatozoa. Case Report: 46,Xy, Inv(2)(Q21.2Q37.3) And Literature Review

Yapan, Cigdem Cinar; Beyazyurek, C.; Ekmekçi, Cumhur Gökhan; Kahraman, Semra

doi:10.2478/bjmg-2014-0025

Cited by 7 publications

(1 citation statement)

References 27 publications

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“…There is tentative evidence that mortality rates are increased in embryos sired by heterokaryotypic males for both chromosomes Tgu13 and TguZ (by a weighted average of 4.5 % for each of the chromosomes across populations). We suspect that these effects are not type I errors resulting from multiple testing because also in human males noticeable rates of unbalanced gametes are produced only when an inversion (both para- and pericentric) spans more than half of the chromosome [ 5 , 11 , 12 ]. In fact, our Fig.…”

Section: Discussionmentioning

confidence: 99%

Fitness consequences of polymorphic inversions in the zebra finch genome

Knief

Hemmrich-Stanisak²,

Wittig³

et al. 2016

Genome Biol

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BackgroundInversion polymorphisms constitute an evolutionary puzzle: they should increase embryo mortality in heterokaryotypic individuals but still they are widespread in some taxa. Some insect species have evolved mechanisms to reduce the cost of embryo mortality but humans have not. In birds, a detailed analysis is missing although intraspecific inversion polymorphisms are regarded as common. In Australian zebra finches (Taeniopygia guttata), two polymorphic inversions are known cytogenetically and we set out to detect these two and potentially additional inversions using genomic tools and study their effects on embryo mortality and other fitness-related and morphological traits.ResultsUsing whole-genome SNP data, we screened 948 wild zebra finches for polymorphic inversions and describe four large (12–63 Mb) intraspecific inversion polymorphisms with allele frequencies close to 50 %. Using additional data from 5229 birds and 9764 eggs from wild and three captive zebra finch populations, we show that only the largest inversions increase embryo mortality in heterokaryotypic males, with surprisingly small effect sizes. We test for a heterozygote advantage on other fitness components but find no evidence for heterosis for any of the inversions. Yet, we find strong additive effects on several morphological traits.ConclusionsThe mechanism that has carried the derived inversion haplotypes to such high allele frequencies remains elusive. It appears that selection has effectively minimized the costs associated with inversions in zebra finches. The highly skewed distribution of recombination events towards the chromosome ends in zebra finches and other estrildid species may function to minimize crossovers in the inverted regions.Electronic supplementary materialThe online version of this article (doi:10.1186/s13059-016-1056-3) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Fitness consequences of polymorphic inversions in the zebra finch genome

Knief

Hemmrich-Stanisak²,

Wittig³

et al. 2016

Genome Biol

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Retrospective analysis of meiotic segregation pattern and interchromosomal effects in blastocysts from inversion preimplantation genetic testing cycles

Xie

Tan

et al. 2019

Fertility and Sterility

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Objective: To determine factors affecting unbalanced chromosomal rearrangement originating from parental inversion and interchromosomal effect occurrence in blastocysts from inversion carriers. Design: Retrospective study. Setting: University-affiliated center. Patient(s): Couples with one partner carrying inversion underwent preimplantation genetic testing for chromosomal structural rearrangement cycles. Intervention(s): Not applicable. Main Outcome Measure(s): Unbalanced rearrangement embryo rate, normal embryo rate, interchromosomal effect. Result(s): Preimplantation genetic testing was performed for 576 blastocysts from 57 paracentric (PAI) and 94 pericentric (PEI) inversion carriers. The percentage of normal/balanced blastocysts was significantly higher in PAI than PEI carriers (70.4% vs. 57.5%). Logistic regression indicated the inverted segment size ratio was a statistically significant risk factor for abnormality from parental inversion in both PEI and PAI. The optimal cutoff values to predict unbalanced rearrangement risk were 35.7% and 57%. In PAI, rates of abnormality from parental inversion were 0% and 12.1% in the <35.7% and R35.7% groups, respectively, with no gender difference. For PEI, the rates of abnormality from parental inversion were 7.9% and 33.1% in the <57% and R57% groups, respectively. In the R57% group, the rate of unbalanced rearrangement was significantly higher from paternal than maternal inversion (43.3% vs. 23.6%). In inversion carriers, 21,208 chromosomes were examined, and 187 (0.88%) malsegregations were identified from structurally normal chromosomes. In controls, 56,488 chromosomes were assessed, and 497 (0.88%) aneuploidies were identified, indicating no significant difference. Conclusion(s):The risk of unbalanced rearrangement is affected by the ratio of inverted segment size in both PAI and PEI carriers and is associated with gender. (Fertil Steril Ò 2019;112:336-42. Ó2019 by American Society for Reproductive Medicine.) El resumen está disponible en Español al final del artículo.

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PGT for structural chromosomal rearrangements in 300 couples reveals specific risk factors but an interchromosomal effect is unlikely

Oğur

Kahraman

et al. 2023

Reproductive BioMedicine Online

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The Largest Paracentric Inversion, The Highest Rate Of Recombinant Spermatozoa. Case Report: 46,Xy, Inv(2)(Q21.2Q37.3) And Literature Review

Cited by 7 publications

References 27 publications

Fitness consequences of polymorphic inversions in the zebra finch genome

Fitness consequences of polymorphic inversions in the zebra finch genome

Retrospective analysis of meiotic segregation pattern and interchromosomal effects in blastocysts from inversion preimplantation genetic testing cycles

PGT for structural chromosomal rearrangements in 300 couples reveals specific risk factors but an interchromosomal effect is unlikely

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