Meiotic abnormalities in patients bearing complete AZFc deletion of Y chromosome

Geoffroy-Siraudin, Cendrine; Aknin-Seiffer, I.; Metzler‐Guillemain, Catherine; Ghalamoun-Slaimi, Rahma; Bonzi, M.F.; Lévy, Rachel; Guichaoua, Marie Roberte

doi:10.1093/humrep/dem045

Cited by 30 publications

(13 citation statements)

References 22 publications

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“…Moreover, after PGS, the same patient had all six analyzed embryos diagnosed as chromosomally abnormal, and four of them displayed sex chromosome aneuploidies. Some studies have suggested that Y chromosome microdeletions lead to impairment of normal meiotic synapsis of autosomes, as well as of sex chromosomes (20)(21)(22). These observations could explain the results in this patient; however, more meiotic studies are necessary to determine whether Y chromosome microdeletions in the AZFc region can result in asynapsis and subsequent aneuploidy of autosomes.…”

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confidence: 65%

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Aneuploidies in embryos and spermatozoa from patients with Y chromosome microdeletions

Mateu

Rodrigo

Martínez

et al. 2010

Fertility and Sterility

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confidence: 65%

“…Further, Y chromosome microdeletions have recently been reported to affect meiotic synapsis of the XY bivalent, as well as autosomal bivalents (20)(21)(22).…”

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confidence: 99%

Aneuploidies in embryos and spermatozoa from patients with Y chromosome microdeletions

Mateu

Rodrigo

Martínez

et al. 2010

Fertility and Sterility

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“…On Yq region of AZF microdeletions was directly related with the phase in which spermatogenesis was arrested. Microdeletions of each locus cause spermatogenic arrest at a particular stage because each candidate genes of AZF locus specified a different phase of spermatogenesis (Geoffroy-Siraudin et al, 2007). Testicular histology of Y chromosome microdeletions in azoospermia and oligozoospermia infertile male had shown variable phenotypes of spermatogenesis (Singh & Raman, 2005).…”

Section: Discussionmentioning

confidence: 99%

Male infertility: screening of azoospermia factor (azf) microdeletion in idiopathic infertile men

Ambulkar¹,

Pande²

2017

JEBAS

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Genetic factors cause about 15% of male infertility and microdeletions of Y chromosome is one of the genetic causes in idiopathic infertile men. Azoospermia factors (AZFa, AZFb, and AZFc) on Yq long arm are most important for spermatogenesis. For analysis of microdeletions in the AZF regions by sequence-tagged-site (STS) PCR is important screening method for infertility. An attempt has been made to evaluate the frequencies of microdeletions of AZFa, AZFb, AZFc in idiopathic cases of azoospermic and oligozoospermic subjects. Total 160 subjects (90 oligozoospermia and 70 azoospermia) and 50 control subjects were analyzed in this study. DNA samples were analyzed for microdeletions of Y chromosome by PCR-screening of 18 STS markers from different locus of the AZFa, AZFb, AZFc on Yq and SRY on Yp. The semen analysis was done and infertile men showing normal karyotype only were included in the study. Plasma follicle stimulating hormone (FSH) and leutinizating hormone concentrations were determined to rule out hormonal abnormality. Out of 160 analyzed cases, 17 (10.6%) subjects showed partial deletion of AZF regions, of which deletion in AZFc region was the most common (58.8%) and it was followed by AZFb and AZFa. The four subjects were shown two or more STS primer deleted sites and overall frequency of Y chromosome microdeletion in our subjects is 10.6%. The sites and sizes of deletions varied among patients. No deletions observed in control subjects. The varied frequencies of Y microdeletions are reported in infertile men in Indian population. From the results of this study it can be suggest that the frequency of deletions may be affected by study sample size, selection criteria of subjects and different geographical region. So, the screening of Y microdeletions is necessary along with the chromosomal analysis in case of infertile men.

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“…In premeiotic germ cells of azoospermic men with distinct AZF microdeletions, distortion of the X-Y pairing structure was observed with Y chromosomes containing AZFb [34] and AZFc microdeletions [35] , and earlier with overlapping AZFb-c deletions [36] . AZFb deletions seem to interfere with the initiation of meiotic recombination [34,36] , whereas Y chromosomes with AZFc deletions displayed an extended zygotene stage and reduced condensation at pachytene [35] . These data suggest that meiotic arrest, the major testicular pathology of infertile [126] .…”

Section: Impairment Of Dynamic Azoospermia Factor Chromosome Structurmentioning

confidence: 98%

Human Y Chromosome and Male Infertility: Forward and Back from Azoospermia Factor Chromatin Structure to Azoospermia Factor Gene Function

Vogt¹,

Bender²,

Zimmer³

et al. 2017

Genetics of Human Infertility

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In the euchromatic part of the long arm of the human Y chromosome (Yq11) at least 13 Y genes encoding proteins and expressed in male germ cells were found in 3 distinct genomic Y regions frequently deleted in infertile men with idiopathic azoospermia, i.e., for unknown reasons no mature sperm were found in their semen fluid. Accordingly, they were designated as azoospermia factor (AZF) regions: AZFa, AZFb, and AZFc. Additionally, 10 Y genes called "testis-specific transcript Y" ( TTTY ) genes were mapped in the same AZF intervals. They belong to the long non-coding RNA gene pool in human germ cells because they seem to lack any protein-coding potential. Distinct chromatin regions in Yq11 overlapping with AZFb and AZFc are supposed to be involved in the premeiotic X and Y chromosome pairing and inactivation process controlling male germ cell meiosis. It can thus be assumed that the germ line function of the AZF loci in Yq11 may be not only based on the expression of some germ cell proteins, but also on the expression of some germ cell-specific TTTY transcripts and a locally dynamic and specific chromatin folding structure probably controlled by some germ cell-specific nuclear proteins.

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Meiotic abnormalities in patients bearing complete AZFc deletion of Y chromosome

Cited by 30 publications

References 22 publications

Aneuploidies in embryos and spermatozoa from patients with Y chromosome microdeletions

Aneuploidies in embryos and spermatozoa from patients with Y chromosome microdeletions

Male infertility: screening of azoospermia factor (azf) microdeletion in idiopathic infertile men

Human Y Chromosome and Male Infertility: Forward and Back from Azoospermia Factor Chromatin Structure to Azoospermia Factor Gene Function

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