scholarly journals Non-Random Distribution of Reciprocal Translocation Breakpoints in the Pig Genome

Genes ◽  
2019 ◽  
Vol 10 (10) ◽  
pp. 769 ◽  
Author(s):  
Brendan Donaldson ◽  
Daniel A. F. Villagomez ◽  
Tamas Revay ◽  
Samira Rezaei ◽  
W. Allan King
Keyword(s):  
Random Distribution ◽  
Chromosome Length ◽  
Fragile Sites ◽  
Chromosome Rearrangements ◽  
Reciprocal Translocations ◽  
Starting Point ◽  
Pig Genome ◽  
Translocation Breakpoints ◽  
Unique Chromosome ◽  
Balanced Chromosome Rearrangements

Balanced chromosome rearrangements are one of the main etiological factors contributing to hypoprolificacy in the domestic pig. Amongst domestic animals, the pig is considered to have the highest prevalence of chromosome rearrangements. To date over 200 unique chromosome rearrangements have been identified. The factors predisposing pigs to chromosome rearrangements, however, remain poorly understood. Nevertheless, here we provide empirical evidence which sustains the notion that there is a non-random distribution of chromosomal rearrangement breakpoints in the pig genome. We sought to establish if there are structural chromosome factors near which rearrangement breakpoints preferentially occur. The distribution of rearrangement breakpoints was analyzed across three level, chromosomes, chromosome arms, and cytogenetic GTG-bands (G-banding using trypsin and giemsa). The frequency of illegitimate exchanges (e.g., reciprocal translocations) between individual chromosomes and chromosome arms appeared to be independent of chromosome length and centromere position. Meanwhile chromosome breakpoints were overrepresented on some specific G-bands, defining chromosome hotspots for ectopic exchanges. Cytogenetic band level factors, such as the length of bands, chromatin density, and presence of fragile sites, were associated with the presence of translocation breakpoints. The characteristics of these bands were largely similar to that of hotspots in the human genome. Therefore, those hotspots are proposed as a starting point for future molecular analyses into the genomic landscape of porcine chromosome rearrangements.

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.

scholarly journals Diversified Chromosome Rearrangements Detected in a Wheat‒Dasypyrum breviaristatum Substitution Line Induced by Gamma-Ray Irradiation

Plants ◽  
2019 ◽  
Vol 8 (6) ◽  
pp. 175 ◽  
Author(s):  
Hongjin Wang ◽  
Zhihui Yu ◽  
Guangrong Li ◽  
Zujun Yang
Keyword(s):  
Gamma Ray ◽  
Agronomic Traits ◽  
Wheat Breeding ◽  
Substitution Line ◽  
Chromosome Rearrangements ◽  
Reciprocal Translocations ◽  
Chromosome Translocations ◽  
Gamma Ray Irradiation ◽  
Dasypyrum Breviaristatum

To determine the composition of chromosome aberrations in a wheat‒Dasypyrum breviaristatum substitution line with seeds treated by a dose of gamma-rays (200 Gy), sequential non-denaturing fluorescence in situ hybridization (ND-FISH) with multiple oligonucleotide probes was used to screen individual plants of the mutagenized progenies. We identified 122 types of chromosome rearrangements, including centromeric, telomeric, and intercalary chromosome translocations from a total of 772 M1 and 872 M2 plants. The frequency of reciprocal translocations between B- and D-chromosomes was higher than that between A- and D-chromosomes. Eight translocations between D. breviaristatum and wheat chromosomes were also detected. The 13 stable plants with multiple chromosome translocations displayed novel agronomic traits. The newly developed materials will enhance wheat breeding programs through wheat‒Dasypyrum introgression and also facilitate future studies on the genetic and epigenetic effects of translocations in wheat genomics.

De novo balanced chromosome rearrangements in prenatal diagnosis

2009 ◽  
Vol 29 (3) ◽  
pp. 257-265 ◽  
Author(s):  
Daniela Giardino ◽  
Cecilia Corti ◽  
Lucia Ballarati ◽  
Daniela Colombo ◽  
Elena Sala ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Chromosome Rearrangements ◽  
Balanced Chromosome Rearrangements

scholarly journals TECHNIQUES FOR MANIPULATING CHROMOSOMAL REARRANGEMENTS AND THEIR APPLICATION TO DROSOPHILA MELANOGASTER. II. TRANSLOCATIONS

Genetics ◽  
1984 ◽  
Vol 108 (3) ◽  
pp. 573-587
Author(s):  
Loring Craymer
Keyword(s):  
Tandem Duplication ◽  
Gene Dosage ◽  
Chromosomal Rearrangements ◽  
Region Of Interest ◽  
Reciprocal Translocations ◽  
The Third ◽  
Translocation Breakpoints ◽  
Inversion Breakpoints ◽  
Derivatives Of ◽  
Tandem Duplications

ABSTRACT Translocations have long been valued for their segregational properties. This paper extends the utility of translocations by considering recombinational derivatives of pairs of simple reciprocal translocations. Three major derivative structures are noted. One of these derivatives is suitable for use in half-tetrad experiments. A second should find use in recombining markers with translocation breakpoints. The third is an insertional-tandem duplication: it has a section of one chromosome inserted into a heterologue with a section of the latter chromosome tandemly repeated about the breaks of the insert. All of these structures are contained in "constellations" of chromosomes that regularly segregate aneuploid-1 products (informationally equivalent to nonrecombinant adjacent-1 segregants) for one of the parental translocations but do not segregate euploid products. This is in contrast to the parental T  1/T  2 constellations which segregate euploid products but not aneuploid-1 products. Methods are described for selecting translocation recombinants on the basis of this dichotomy. Several examples of translocation recombinants have been recovered with these techniques, and the recombination frequencies seem to be consistent with those observed for crossovers between inversion breakpoints. Recombinant chromosomes tend to disjoin, but it is observed that the tendency may vary according to the region involved in the recombination, and it is suggested that this difference reflects a difference in chiasmata terminalization times. Special consideration is given to insertional-tandem duplications. Large insertional-tandem duplications are useful in cytogenetic screens. Small insertional-tandem duplications are useful in gene dosage studies and other experiments that require an insert from one chromosome to another. Large duplications can be deleted to form small duplications. To generate a small insert for a specified region, it is only necessary to have one translocation with a breakpoint flanking the region of interest. The second translocation can have a breakpoint quite far from the region: an insertional-tandem duplication containing the region that has one closely flanking breakpoint can be deleted to create a smaller duplication that has two closely flanking breakpoints.

scholarly journals Successful Birth After Preimplantation Genetic Testing for a Couple With Two Different Reciprocal Translocations and Review of the Literature

2020 ◽  
Author(s):  
Dun Liu ◽  
Chuangqi Chen ◽  
Xiqian Zhang ◽  
Mei Dong ◽  
Tianwen He ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Reciprocal Translocation ◽  
Carrier Status ◽  
Review Of The Literature ◽  
Preimplantation Genetic Testing ◽  
Reciprocal Translocations ◽  
Translocation Breakpoints ◽  
Next Generation Sequencing Ngs ◽  
Low Coverage

Abstract Background: Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) is widely applied in couples with single reciprocal translocation to increase the chance for a healthy live birth. However, limited knowledge is known on the data of PGT-SR when both parents have a reciprocal translocation. Here, we for the first time present a rare instance of PGT-SR for a non-consanguineous couple in which both parents carried an independent balanced reciprocal translocation and show how relevant genetic counseling data can be generated.Methods: The precise translocation breakpoints were identified by whole genome low-coverage sequencing (WGLCS) and Sanger sequencing. Next-generation sequencing (NGS) combining with breakpoint-specific polymerase chain reaction (PCR) was used to define 24-chromosome and the carrier status of the euploid embryos.Results: Surprisingly, 66.7% day-5 blastocysts were found to be balanced for maternal reciprocal translocation while being normal for paternal translocation and thus transferable. The transferable embryo rate was significantly higher than that which would be expected theoretically. Transfer of one balanced embryo resulted in the birth of a healthy boy. Conclusion(s): Our data of PGT-SR together with a systematic review of the literature should help in providing couples carrying two different reciprocal translocations undergoing PGT-SR with more appropriate genetic counseling.

scholarly journals Molecular Cytogenetic Delineation of Deletions and Translocations Involving Chromosome Band 7q22 in Myeloid Leukemias

Blood ◽  
1997 ◽  
Vol 89 (6) ◽  
pp. 2036-2041 ◽  
Author(s):  
Konstanze Fischer ◽  
Stefan Fröhling ◽  
Stephen W. Scherer ◽  
Jill McAllister Brown ◽  
Claudia Scholl ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Myeloid Leukemia ◽  
Chromosome Banding ◽  
De Novo ◽  
Chromosome Band ◽  
Reciprocal Translocations ◽  
Myeloid Leukemias ◽  
Banding Analysis ◽  
Chromosome Banding Analysis ◽  
Translocation Breakpoints

Abstract Loss of chromosome 7 (−7) or deletion of its long arm (7q−) are recurring chromosome abnormalities in myeloid disorders, especially in therapy-related myelodysplastic syndrome (t-MDS) and acute myeloid leukemia (t-AML). The association of −7/7q− with myeloid leukemia suggests that these regions contain a novel tumor suppressor gene(s) whose loss of function contributes to leukemic transformation or tumor progression. Based on chromosome banding analysis, two critical regions have been identified: one in band 7q22 and a second in bands 7q32-q35. We analyzed bone marrow and blood samples from 21 patients with myeloid leukemia (chronic myeloid leukemia, n = 2; de novo MDS, n = 4; de novo AML, n = 13; t-AML, n = 2) that on chromosome banding analysis exhibited deletions (n = 19) or reciprocal translocations (n = 2) of band 7q22 using fluorescence in situ hybridization. As probes, we used Alu-polymerase chain reaction products from 22 yeast artificial chromosome (YAC) clones that span chromosome bands 7q21.1-q32, including representative clones from a panel of YACs recognizing a contiguous genomic DNA fragment of 5 to 6 Mb in band 7q22. In the 19 cases with deletions, we identified two distinct commonly deleted regions: one region within band 7q22 was defined by the two CML cases; the second region encompassed a distal part of band 7q22 and the entire band 7q31 and was defined by the MDS/AML cases. The breakpoint of one of the reciprocal translocations was mapped to 7q21.3, which is centromeric to both of the commonly deleted regions. The breakpoint of the second translocation, which was present in unstimulated bone marrow and phytohemagglutinin-stimulated blood of an MDS patient, was localized to a 400-kb genomic segment in 7q22 within the deletion cluster of the MDS/AML cases. In conclusion, our data show marked heterogeneity of 7q22 deletion and translocation breakpoints in myeloid leukemias, suggesting the existence of more than one pathogenetically relevant gene.

Modification of the Drosophila heterochromatic mutation brownDominant by linkage alterations.

Genetics ◽  
1994 ◽  
Vol 136 (2) ◽  
pp. 559-571 ◽  
Author(s):  
P B Talbert ◽  
C D LeCiel ◽  
S Henikoff
Keyword(s):  
Drosophila Melanogaster ◽  
X Chromosome ◽  
Genetic Locus ◽  
Special Property ◽  
Chromosome Rearrangements ◽  
Chromosome 3 ◽  
Heterochromatin Formation ◽  
Chromosome Arm ◽  
Translocation Breakpoints

Abstract The variegating mutation brownDominant (bwD) of Drosophila melanogaster is associated with an insertion of heterochromatin into chromosome arm 2R at 59E, the site of the bw gene. Mutagenesis produced 150 dominant suppressors of bwD variegation. These fall into two classes: unlinked suppressors, which also suppress other variegating mutations; and linked chromosome rearrangements, which suppress only bwD. Some rearrangements are broken at 59E, and so might directly interfere with variegation caused by the heterochromatic insertion at that site. However, most rearrangements are translocations broken proximal to bw within the 52D-57D region of 2R. Translocation breakpoints on the X chromosome are scattered throughout the X euchromatin, while those on chromosome 3 are confined to the tips. This suggests that a special property of the X chromosome suppresses bwD variegation, as does a distal autosomal location. Conversely, two enhancers of bwD are caused by translocations from the same part of 2R to proximal heterochromatin, bringing the bwD heterochromatic insertion close to the chromocenter with which it strongly associates. These results support the notion that heterochromatin formation at a genetic locus depends on its location within the nucleus.

scholarly journals Detection of deletions in de novo “balanced” chromosome rearrangements: Further evidence for their role in phenotypic abnormalities

2004 ◽  
Vol 6 (2) ◽  
pp. 81-89 ◽  
Author(s):  
Caroline Astbury ◽  
Laurie A Christ ◽  
David J Aughton ◽  
Suzanne B Cassidy ◽  
Arun Kumar ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosome Rearrangements ◽  
Balanced Chromosome Rearrangements
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