Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure

Oliver-Bonet, María; Benet, Jordi; Sun, Fei; Navarro, J.; Abad, Carlos; Liehr, Thomas; Starke, Heike; Greene, Calvin; E, Ko; Martin, Renée H.

doi:10.1093/humrep/deh654

Cited by 72 publications

(59 citation statements)

References 26 publications

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“…Previous observations have also suggested that heterosynapsis between the free arms of trivalents and quadrivalents inhibits the association of these multivalents with the XY body reviewed in Solari, 1999). Recent observations on two human reciprocal translocations showing very different frequencies of heterosynapsis give further support to this suggestion (Oliver-Bonet et al, 2005b). The present results agree with these previous observations, as it is shown that no heterosynapsed arms of cases 1 and 3 are ever found associated with the XY body.…”

Section: Discussionsupporting

confidence: 93%

The asynaptic chromatin in spermatocytes of translocation carriers contains the histone variant γ-H2AX and associates with the XY body

et al. 2006

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BACKGROUND:The close apposition of multivalents with the XY body has been repeatedly described in heterozygous carriers of chromosomal rearrangements. Because in many of these carriers spermatogenesis is deeply disturbed at the spermatocyte level, the association of autosomal chromatin with the XY body may impair the spermatocyte life. METHODS: Testicular biopsies from three men carriers of three different chromosomal rearrangements have been analysed by electron microscopy (EM) and immunolocalization of meiotic proteins. RESULTS: There is an ordered transition from isolated multivalents at early pachytene to XY body association in late pachytene, as shown in a carrier of a rob t(13;14) translocation by EM and in a reciprocal translocation t(9;14) carrier by immunofluorescence. The non-synapsed ends of the quadrivalent show BRCA1 located on the axes and the variant histone g-H2AX located on the chromatin. The area covered by g-H2AX increases with the association of the asynaptic ends with the XY body in the t(9;14) carrier, and the area covered with g-H2AX in the t(Y;15) carrier is larger than that of the XY body of controls. CONCLUSIONS: The affinity between the inactive XY body and asynaptic regions of multivalents is given a material basis, and transcriptional inactivation is probably shared by these two chromatin types.

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Section: Discussionsupporting

confidence: 93%

The asynaptic chromatin in spermatocytes of translocation carriers contains the histone variant γ-H2AX and associates with the XY body

et al. 2006

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“…Recent studies have shown normal timing and progression of condensation through the pachytene stage for the sex body in a carrier of a t(Y;1) translocation (Sun et al, unpublished results) and for the sex body associated with the quadrivalent in a t(13;20) carrier (Oliver-Bonet et al, 2005). These results, together with the fact that there is a strong relationship between SB inactivation and XY condensation (Fernandez-Capetillo et al, 2003), do not support the model of gene activation on the X chromosome.…”

Section: The Sex Body Affairmentioning

confidence: 97%

“…In a recent analysis we have compared the meiotic process in two translocation carriers with different fertility outcomes, one normozoospermic and the other azoospermic (Oliver-Bonet et al, 2005). A significant number of quadrivalents were attached to the SB in the azoospermic carrier, whereas such an association was never detected in the normozoospermic carrier.…”

Section: Playing Catchmentioning

confidence: 99%

“…The quadrivalent figure is clearly visible at the synaptonemal complex level during pachytene. The use of immunocytogenetic techniques allows us to perform both synapsis and recombination analyses within the quadrivalent (Oliver-Bonet et al, 2005). In this review, the effect of synaptic and recombination failures within the quadrivalent on the behaviour of the quadrivalent, and on the normal progression of the meiotic process (mainly through the role played by the association of the quadrivalent with the sex body) are discussed.…”

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confidence: 99%

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Male infertility in reciprocal translocation carriers: the sex body affair

Oliver-Bonet

Martin

2005

Cytogenet Genome Res

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Previous reports have linked chromosomal reorganization and spermatogenic failure. In this context, it has long been known that reciprocal translocation carriers are more likely to have anomalies in the meiotic process, including fertility failures. It has also been proposed that this fertility failure may be a consequence of an association between the translocated chromosomes and the sex body. In this work, we review different hypotheses explaining meiotic failure in these carriers, and propose a model that relates meiotic abnormalities with both sex body-translocation association and different checkpoints that are known to operate during meiosis.

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“…15 In one study, at least two different meiotic checkpoints were present in a t (13;20) carrier; 22 in such a case, an association may occur between the sex body and quadrivalent structure, which could also increase during the pachytene stage, such that decreased numbers of cells reach the later pachytene …”

Section: Impact Of Chromosomal Translocations On Male Infertilitymentioning

confidence: 99%

Impact of Chromosomal Translocations on Male Infertility, Semen Quality, Testicular Volume and Reproductive Hormone Levels

Dong¹,

Rc²,

Jiang³

et al. 2012

J Int Med Res

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Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure

Abstract: By comparing these two different translocation carriers with different fertility outcomes, we discuss the possible mechanisms by which translocations might cause the spermatogenesis process to fail.

Cited by 72 publications

References 26 publications

The asynaptic chromatin in spermatocytes of translocation carriers contains the histone variant γ-H2AX and associates with the XY body

The asynaptic chromatin in spermatocytes of translocation carriers contains the histone variant γ-H2AX and associates with the XY body

Male infertility in reciprocal translocation carriers: the sex body affair

Impact of Chromosomal Translocations on Male Infertility, Semen Quality, Testicular Volume and Reproductive Hormone Levels

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