Synapsis and synaptic adjustment in an infertile human male heterozygous for a pericentric inversion in chromosome 1

Gabriel-Robez, O.; Ratomponirina, C.; Rumpler, Y.; Marec, B. Le; Luciani, J. M.; Guichaoua, Marie-Roberte

doi:10.1007/bf00283934

Cited by 39 publications

(20 citation statements)

References 13 publications

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“…However, none of these studies have studied reciprocal translocations involving chromosome 1, and the studies of three different inversions involving chromosome 1 have failed to confirm any association to the XY-body. 17,29,30 An association with the XY-body is especially frequent when acrocentric chromosomes are involved in the rearrangements. 28 In the present study, we observed a significant excess of infertile males with a breakpoint on an acrocentric p-arm.…”

Section: Discussionmentioning

confidence: 99%

An excess of chromosome 1 breakpoints in male infertility

et al. 2004

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3 -48 Full affiliations can be seen as electronic supplementIn a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced rearrangement from Mendelian Cytogenetics Network database (MCNdb) and compared their karyotypes with those of a Danish nation-wide cohort. We excluded Robertsonian translocations, rearrangements involving sex chromosomes and common variants. We identified 10 autosomal bands, five of which were on chromosome 1, with a large excess of breakpoints in the infertility group. Some of these could potentially harbour a male-specific infertility locus. However, a general excess of breakpoints almost everywhere on chromosome 1 was observed among the infertile males: 26.5 versus 14.5% in the cohort. This excess was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia. The largest number of breakpoints was reported in 1q21; FISH mapping of four of these breakpoints revealed that they did not involve the same region at the molecular level. We suggest that chromosome 1 harbours a critical domain whose integrity is essential for male fertility.

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Section: Discussionmentioning

confidence: 99%

An excess of chromosome 1 breakpoints in male infertility

et al. 2004

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“…1982;Moses and Poorman, 1984;Tease and Fisher, 1986), pericentric inversion (Ashley et al, 1981;Davisson et al. 1981;Gabriel-Robez et al, 1986b;Guichaoua et al, 1986), centric fusion (Moses et al, 1979;Bogdanov et al. 1986), tandem duplication (Moses andPoorman.…”

Section: Discussionmentioning

confidence: 99%

Synaptic adjustment in <i>Peromyscus beatae </i>(Rodentia: Cricetidae) heterozygous for interstitial heterochromatin

Sudman¹,

Greenbaum²,

Hale³

et al. 1989

Cytogenet Genome Res

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Chromosomal pairing and chiasma formation were studied two individuals of Peromyscus beatae heterozygous for the presence of a large block of interstitial heterochromatin. Although the modified chromosome was of medium size, analysis of C-banded diakinetic configurations revealed that it was the homolog of one of the smallest autosomes. Analysis of silver stained synaptonemal complexes indicated that synapsis was either unidirectional from initiation at one set of telomeres or was bidirectional from initiation at both sets of telomeres. Each pattern resulted in characteristic heteromorphic pairing configurations (interstitial asynapsis or terminally positioned unpaired segments) in early pachynema. These configurations underwent synaptic adjustment and, by mid-pachynema, the lateral elements of the polymorphic bivalent either appeared typical of homomorphic bivalents or exhibited regional heteropycnosis in one or both axes. Synaptonemal complex data for Peromyscus and many other mammalian species reflect an apparent need for fully paired, linear bivalents prior to the end of pachynema.

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“…The frequency of these cell anomalies declined from late zygotene to late pachytene. This could be because synaptic adjustment reduces pairing failures, as has been proposed for several mammalian species (Ashley et al, 1981;Moses and Poorman, 1981;Gabriel-Robez et al, 1986;Dollin et al, 1991).…”

Section: Resultsmentioning

confidence: 86%

Analysis of the synaptonemal complex of the nine-banded armadillo, Dasypus novemcinctus

et al. 2000

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The synaptonemal complex (SC) of three specimens of the nine-banded armadillo (Dasypus novemcinctus) was analyzed. Thirty-two bivalents (2n = 64) were observed, 31 of them being autosomes and one an XY sexual bivalent. Chromosome synapsis processes and nucleolus structure changes were analyzed in zygotene and pachytene cells, allowing a detailed description of the beginning of meiotic prophase in this species. There was complete synapsis of X and Y chromosomes. Some abnormalities in SC were observed in cells during zygotene and at the beginning of pachytene, but not in cells in the middle and late pachytene, suggesting the occurrence of synaptic adjustments in their SC.

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Synapsis and synaptic adjustment in an infertile human male heterozygous for a pericentric inversion in chromosome 1

Abstract: Synapsis and "synaptic adjustment" were analyzed, using electron microscopy in silver stained surface microspreads of inversion-bearing spermatocytes, in an infertile human male with an inherited pericentric inversion in chromosome 1. Possible reasons for his infertility are discussed.

Cited by 39 publications

References 13 publications

An excess of chromosome 1 breakpoints in male infertility

An excess of chromosome 1 breakpoints in male infertility

Synaptic adjustment in <i>Peromyscus beatae </i>(Rodentia: Cricetidae) heterozygous for interstitial heterochromatin

Analysis of the synaptonemal complex of the nine-banded armadillo, Dasypus novemcinctus

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