Segregation of sex chromosomes into sperm nuclei in a man with 47,XXY Klinefelter's karyotype: a FISH analysis

1997 ◽  
Vol 99 (4) ◽  
pp. 474-477 ◽  
Author(s):  
M. Guttenbach ◽  
H. W. Michelmann ◽  
B. Hinney ◽  
W. Engel ◽  
M. Schmid
Keyword(s):  
Sex Chromosomes ◽  
Fish Analysis ◽  
Sperm Nuclei

The conservation of number and location of 18S sites indicates the relative stability of rDNA in species of Pentatomomorpha (Heteroptera)

Genome ◽  
2013 ◽  
Vol 56 (7) ◽  
pp. 425-429 ◽  
Author(s):  
Vanessa Bellini Bardella ◽  
Thiago Fernandes ◽  
André Luís Laforga Vanzela
Keyword(s):  
Sex Chromosomes ◽  
18S Rdna ◽  
Fluorescent In Situ Hybridization ◽  
Evolutionary History ◽  
Conclusive Evidence ◽  
Fish Analysis ◽  
Comparative Cytogenetics ◽  
Rdna Sites ◽  
History Of

Fluorescent in situ hybridization (FISH) with rDNA probes has been used for comparative cytogenetics studies in different groups of organisms. Although heteropterans are a large suborder within Hemiptera, studies using rDNA are limited to the infraorder Cimicomorpha, in which rDNA sites are present in the autosomes or sex chromosomes. We isolated and sequenced a conserved 18S rDNA region of Antiteuchus tripterus (Pentatomidae) and used it as a probe against chromosomes of 25 species belonging to five different families of Pentatomomorpha. The clone pAt05, with a length of 736 bp, exhibited a conserved stretch of 590 bp. FISH analysis with the probe pAt05 always demonstrated hybridization signals in sub-terminal positions, except for Euschistus heros. Apparently, there is a tendency for 18S rDNA sites to locate in autosomes, except for Leptoglossus gonagra and Euryophthalmus rufipennis, which showed signals in the m- and sex chromosomes, respectively. Although FISH has produced evidence that rearrangements are involved in rDNA repositioning, whether in different autosomes or between sex and m-chromosomes, we have no conclusive evidence of what were the pathways of these rearrangements based on the evolutionary history of the species studied here. Nevertheless, the diversity in the number of species analyzed here showed a tendency of 18S rDNA to remain among the autosomes.

PCR-PRINS-FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype

2001 ◽  
Vol 60 (5) ◽  
pp. 385-392 ◽  
Author(s):  
A Cervantes ◽  
R Guevara-Yáñez ◽  
M López ◽  
N Monroy ◽  
M Aguinaga ◽  
...  
Keyword(s):  
Sex Chromosomes ◽  
Fish Analysis ◽  
Turner Phenotype

scholarly journals FISH and Chimps: Insights into Frequency and Distribution of Sperm Aneuploidy in Chimpanzees (Pan troglodytes)

2021 ◽  
Vol 22 (19) ◽  
pp. 10383
Author(s):  
Charlotte Guyot ◽  
Marlène Gandula ◽  
Wendy Noordermeer ◽  
Céline François-Brazier ◽  
Rosemary Moigno ◽  
...  
Keyword(s):  
Pan Troglodytes ◽  
Dna Sequences ◽  
Pregnancy Loss ◽  
Farm Animals ◽  
Fish Analysis ◽  
Sperm Aneuploidy ◽  
Sperm Fish ◽  
Sperm Nuclei ◽  
First Time ◽  
Human Primate

Numerical chromosomal aberrations in sperm are considered to be a major factor in infertility, early pregnancy loss and syndromes with developmental and cognitive disabilities in mammals, including primates. Despite numerous studies in human and farm animals, the incidence and importance of sperm aneuploidies in non-human primate remains mostly undetermined. Here we investigated the incidence and distribution of sperm aneuploidy in chimpanzees (Pan troglodytes), the species closest to human. We identify evolutionary conserved DNA sequences in human and chimpanzee and selected homologous sub-telomeric regions for all chromosomes to build custom probes and perform sperm-FISH analysis on more than 10,000 sperm nuclei per chromosome. Chimpanzee mean autosomal disomy rate was 0.057 ± 0.02%, gonosomes disomy rate was 0.198% and the total disomy rate was 1.497%. The proportion of X or Y gametes was respectively 49.94% and 50.06% for a ratio of 1.002 and diploidy rate was 0.053%. Our data provide for the first time an overview of aneuploidy in non-human primate sperm and shed new insights into the issues of aneuploidy origins and mechanisms.

scholarly journals A Turner syndrome case associated with dic(Y;22)

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Rie Kawamura ◽  
Hidehito Inagaki ◽  
Midori Yamada ◽  
Fumihiko Suzuki ◽  
Yuki Naru ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Loss Of Heterozygosity ◽  
Sex Chromosomes ◽  
Chromosome 22 ◽  
Fish Analysis ◽  
Mosaic Pattern ◽  
Case Presentation ◽  
Snp Microarray ◽  
Female Case ◽  
Pseudoautosomal Regions

Abstract Background Constitutional telomeric associations are very rare events and the mechanism underlying their development is not well understood. Case presentation We here describe a female case of Turner syndrome with a 45,X,add(22)(p11.2)[25]/45,X[5]. We reconfirmed this karyotype by FISH analysis as 45,X,dic(Y;22)(p11.3;p11.2)[28]/45,X[2].ish dic(Y;22)(SRY+,DYZ1+). A possible mechanism underlying this mosaicism was a loss of dic(Y;22) followed by a monosomy rescue of chromosome 22. However, SNP microarray analysis revealed no loss of heterozygosity (LOH) in chromosome 22, although a mosaic pattern of LOH was clearly detectable at the pseudoautosomal regions of the sex chromosomes. Conclusions Our results suggest that the separation of the dicentric chromosome at the junction resulted in a loss of chromosome Y without a loss of chromosome 22, leading to this patient’s unique mosaicism. Although telomere signals were not detected by FISH at the junction, it is likely that the original dic(Y;22) chromosome was generated by unstable telomeric associations. We propose a novel “pulled apart” mechanism as the process underlying this mosaicism.

scholarly journals Paternal gonadal mosaicism detected in a couple with recurrent abortions undergoing PGD: FISH analysis of sperm nuclei proves valuable

2004 ◽  
Vol 9 (2) ◽  
pp. 225-230 ◽  
Author(s):  
Charintip Somprasit ◽  
Monica Aguinaga ◽  
Pauline L Cisneros ◽  
Sergey Torsky ◽  
Sandra A Carson ◽  
...  
Keyword(s):  
Fish Analysis ◽  
Gonadal Mosaicism ◽  
Recurrent Abortions ◽  
Sperm Nuclei

Meiotic behaviour of sex chromosomes investigated by three-colour FISH on 35 142 sperm nuclei from two 47,XYY males

1997 ◽  
Vol 99 (3) ◽  
pp. 407-412 ◽  
Author(s):  
E. Chevret ◽  
S. Rousseaux ◽  
M. Monteil ◽  
Y. Usson ◽  
J. Cozzi ◽  
...  
Keyword(s):  
Sex Chromosomes ◽  
Meiotic Behaviour ◽  
Sperm Nuclei

Analysis of Meiotic Segregation Pattern and Interchromosomal Effects in a Bull Heterozygous for a 3/16 Robertsonian Translocation

2018 ◽  
Vol 156 (4) ◽  
pp. 197-203 ◽  
Author(s):  
Harmonie Barasc ◽  
Nathalie Mouney-Bonnet ◽  
Clémence Peigney ◽  
Anne Calgaro ◽  
Clémence Revel ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
Chromosomal Rearrangements ◽  
Segregation Pattern ◽  
Fish Analysis ◽  
Meiotic Segregation ◽  
Robertsonian Translocations ◽  
Sperm Nuclei ◽  
Meiotic Segregation Pattern ◽  
First Time ◽  
Low Rate

Robertsonian translocations are the most frequent chromosomal rearrangements detected in cattle. Here, we report on the detection of a new Robertsonian translocation between chromosomes BTA3 and BTA16. This rob(3;16) was dicentric, suggesting that its occurrence was recent. FISH analysis of decondensed sperm nuclei revealed a relatively low rate of unbalanced gametes produced by adjacent segregation (5.87%). In addition, and for the first time in bovines, a significant interchromosomal effect (ICE) was detected for 2 different autosomes: BTA17 (global disomy + nullisomy rate of 9%) and BTA20 (1.8%). These results suggest that ICE should be taken into consideration when assessing the putative effect of Robertsonian translocations on reproduction.

scholarly journals Key gene regulatory sequences with distinctive ontological signatures associate with differentially endonuclease-accessible mouse sperm chromatin

Reproduction ◽  
2011 ◽  
Vol 142 (1) ◽  
pp. 73-86 ◽  
Author(s):  
Myriam Saida ◽  
David Iles ◽  
Abdul Elnefati ◽  
Martin Brinkworth ◽  
David Miller
Keyword(s):  
In Silico ◽  
Methylation Status ◽  
Micrococcal Nuclease ◽  
Ctcf Binding ◽  
Sperm Chromatin ◽  
Regulatory Sequences ◽  
Fish Analysis ◽  
Gene Promoters ◽  
Mouse Sperm ◽  
Sperm Nuclei

Using a well-established endonuclease-based chromatin dissection procedure in conjunction with both experimental comparative genome hybridisation (CGH) array profiling andin silicodata mining, we show that mouse spermatozoa contain chromatin that is sensitive and resistant to digestion with micrococcal nuclease (MNase). Sequences represented in the micrococcal nuclease digestion solubilised (MNDS) but not the MND insoluble (MNDI) chromatin are strongly enriched in chromosomal regions of high gene density. Furthermore, by fluorescencein situhybridisation (FISH) analysis, we show that MNDS and MNDI DNAs occupy distinct domains of decondensed mouse sperm nuclei that may also retain abundant histones. More detailedin silicoanalysis of CGH probe location in relation to known promoters and sequences recognised by CCCTC binding factor (CTCF) shows a significant excess of both in MNDS chromatin. A functional analysis of gene promoters reveals strong ontological signatures for ion transport on methylated promoters associated with CTCF binding sequences in MNDS chromatin. Sensory perception is the only strong ontological signature present in MNDI chromatin, driven by promoters that are not associated with CTCF regardless of their methylation status.

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