Analysis Using Sperm-FISH of a Putative Interchromosomal Effect in Boars Carrying Reciprocal Translocations

2009 ◽  
Vol 126 (1-2) ◽  
pp. 194-201 ◽  
Author(s):  
A. Bonnet-Garnier ◽  
S. Guardia ◽  
A. Pinton ◽  
A. Ducos ◽  
M. Yerle
Keyword(s):  
Reciprocal Translocations ◽  
Interchromosomal Effect ◽  
Sperm Fish

Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies

2000 ◽  
Vol 107 (1) ◽  
pp. 95-95
Author(s):  
Anna M. Estop ◽  
Kathy Cieply ◽  
Santiago Munne ◽  
Urvashi Surti ◽  
Anthony Wakim ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
Interchromosomal Effect ◽  
Sperm Fish

Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies

2000 ◽  
Vol 106 (5) ◽  
pp. 517-524 ◽  
Author(s):  
Anna M. Estop ◽  
Kathy Cieply ◽  
Santiago Munne ◽  
Urvashi Surti ◽  
Anthony Wakim ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
Interchromosomal Effect ◽  
Sperm Fish

Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies

2000 ◽  
Vol 107 (1) ◽  
pp. 95-95
Author(s):  
Anna Estop ◽  
Kathy Cieply ◽  
Santiago Munne ◽  
Urvashi Surti ◽  
Anthony Wakim ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
Interchromosomal Effect ◽  
Sperm Fish

scholarly journals Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men

Reproduction ◽  
2001 ◽  
pp. 655-666 ◽  
Author(s):  
Q Shi ◽  
RH Martin
Keyword(s):  
Chromosomal Abnormalities ◽  
Sperm Concentration ◽  
Normal Karyotype ◽  
Semen Parameters ◽  
Fish Analysis ◽  
Reciprocal Translocations ◽  
Interchromosomal Effect ◽  
Infertile Men ◽  
Sperm Aneuploidy ◽  
Increased Risk

Reproductive difficulties are associated intimately with cytogenetic abnormalities. This article reviews multicolour fluorescence in situ hybridization studies on spermatozoa from men with constitutional chromosomal abnormalities and the consequences for spermatozoa, and on chromosomal abnormalities in the spermatozoa of infertile men who have normal somatic karyotypes. In 47,XYY men, the frequencies of 24,XY and 24,YY spermatozoa appear to be < or = 1%. Klinefelter (47,XXY) and mosaic Klinefelter patients had sperm aneuploidy frequencies of 2-25% and 1.5-7.0%, respectively. Robertsonian translocation carriers had 3-27% spermatozoa unbalanced for the chromosomes involved in the translocation, with a possible modest interchromosomal effect, but none of the increased frequencies of chromosomal disomy approached 1%. The frequency of chromosomally unbalanced spermatozoa in reciprocal translocations averages 50%, is strongly dependent on the chromosomes involved in the individual translocation, and may be slightly increased as a result of a small interchromosomal effect. Infertile men with a normal karyotype and low sperm concentration or certain types of morphologically abnormal spermatozoa have a significantly increased risk of producing aneuploid spermatozoa, particularly for the sex chromosomes. An increased risk of sperm aneuploidy was not observed in infertile men with poor sperm motility or in those with a normal karyotype and normal semen parameters.

scholarly journals Rapid Multi-Hybridisation FISH Screening for Balanced Porcine Reciprocal Translocations Suggests a Much Higher Abnormality Rate Than Previously Appreciated

Cells ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 250
Author(s):  
Rebecca E O’Connor ◽  
Lucas G Kiazim ◽  
Claudia C Rathje ◽  
Rebecca L Jennings ◽  
Darren K Griffin
Keyword(s):  
Semen Analysis ◽  
In Situ Hybridisation ◽  
Economic Loss ◽  
Environmental Damage ◽  
Fluorescence In Situ Hybridisation ◽  
Reciprocal Translocations ◽  
Chromosome Translocations ◽  
Farrowing Rate ◽  
Significant Economic Loss

With demand rising, pigs are the world’s leading source of meat protein; however significant economic loss and environmental damage can be incurred if boars used for artificial insemination (AI) are hypoprolific (sub-fertile). Growing evidence suggests that semen analysis is an unreliable tool for diagnosing hypoprolificacy, with litter size and farrowing rate being more applicable. Once such data are available, however, any affected boar will have been in service for some time, with significant financial and environmental losses incurred. Reciprocal translocations (RTs) are the leading cause of porcine hypoprolificacy, reportedly present in 0.47% of AI boars. Traditional standard karyotyping, however, relies on animal specific expertise and does not detect more subtle (cryptic) translocations. Previously, we reported development of a multiple hybridisation fluorescence in situ hybridisation (FISH) strategy; here, we report on its use in 1641 AI boars. A total of 15 different RTs were identified in 69 boars, with four further animals XX/XY chimeric. Therefore, 4.5% had a chromosome abnormality (4.2% with an RT), a 0.88% incidence. Revisiting cases with both karyotype and FISH information, we reanalysed captured images, asking whether the translocation was detectable by karyotyping alone. The results suggest that chromosome translocations in boars may be significantly under-reported, thereby highlighting the need for pre-emptive screening by this method before a boar enters a breeding programme.

Synteny Conservation and Chromosome Rearrangements During Mammalian Evolution

Genetics ◽  
1997 ◽  
Vol 147 (1) ◽  
pp. 289-296 ◽  
Author(s):  
Jason Ehrlich ◽  
David Sankoff ◽  
Joseph H Nadeau
Keyword(s):  
Genome Analysis ◽  
Systematic Errors ◽  
Chromosome Rearrangements ◽  
Mammalian Evolution ◽  
Comparative Genome Analysis ◽  
Reciprocal Translocations ◽  
Comparative Genome ◽  
Strong Selection ◽  
Synteny Conservation

Abstract An important problem in comparative genome analysis has been defining reliable measures of synteny conservation. The published analytical measures of synteny conservation have limitations. Nonindependence of comparisons, conserved and disrupted syntenies that are as yet unidentified, and redundant rearrangements lead to systematic errors that tend to overestimate the degree of conservation. We recently derived methods to estimate the total number of conserved syntenies within the genome, counting both those that have already been described and those that remain to be discovered. With this method, we show that ~65% of the conserved syntenies have already been identified for humans and mice, that rates of synteny disruption vary ~25-fold among mammalian lineages, and that despite strong selection against reciprocal translocations, inter-chromosome rearrangements occurred approximately fourfold more often than inversions and other intra-chromosome rearrangements, at least for lineages leading to humans and mice.

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