Chromosomal rearrangement at 15Q11-Q13: Interstitial duplication versus supernumerary marker

2019 ◽  
Vol 493 ◽  
pp. S571
Author(s):  
I.A. Martín Núñez ◽  
M.E. Mansilla Aparicio ◽  
J. Nevado Blanco ◽  
F. García Santiago ◽  
B. Fernández Martínez ◽  
...  
2012 ◽  
Vol 43 (02) ◽  
Author(s):  
A Riess ◽  
U Grasshoff ◽  
U Hehr ◽  
M Bonin

2008 ◽  
Vol 16 (1) ◽  
pp. 41-56 ◽  
Author(s):  
Hildegard Kehrer-Sawatzki ◽  
David N. Cooper

Genetics ◽  
1996 ◽  
Vol 142 (2) ◽  
pp. 417-423
Author(s):  
Wayne K Versaw ◽  
Robert L Metzenberg

Abstract A transgenic position effect that causes activator-independent gene expression has been described previously for three Neurospora crassa phosphate-repressible genes. We report analogous findings for two additional positively regulated genes, qa-2  + and ars-1  +, indicating that such position effects are not limited to genes involved in phosphorus metabolism. In addition, we have characterized a number of mutants that display activator-independent gene expression. Each of these mutants contains a chromosomal rearrangement with one breakpoint located in the 5’-upstream region of the affected gene. This suggests that the rearrangements are associated with activator-independent gene expression and that these cis-acting mutations may represent a position effect similar to that responsible for rendering some transgenes independent of their transcriptional activators. We suggest that positively regulated genes in N.  crassa are normally held in a transcriptionally repressed state by a cis-acting mechanism until specifically activated. Disruption of this cis-acting mechanism, either by random integration of a gene by transformation or by chromosomal rearrangement, renders these genes independent or partly independent of the transcriptional activator on which they normally depend.


2002 ◽  
Vol 22 (2) ◽  
pp. 102-104 ◽  
Author(s):  
M. H. Lee ◽  
S. Y. Park ◽  
Y. M. Kim ◽  
J. M. Kim ◽  
J. Y. Han ◽  
...  

Genome ◽  
2018 ◽  
Vol 61 (9) ◽  
pp. 635-641
Author(s):  
Wei Luo ◽  
Nana Qin ◽  
Yang Mu ◽  
Huaping Tang ◽  
Mei Deng ◽  
...  

The translocation of 4AL/5AL in Triticum, which occurred before the differentiation of T. urartu and einkorn, is an important chromosomal rearrangement. Recently, the first identification of breakpoint sequence on 4AL for this translocation provides the opportunity to analyze the variation and diversity of breakpoints in Triticum. In this study, the breakpoint regions of 52 accessions from 21 species were isolated and further characterized. The sequences were divided into 12 types based on their lengths, which ranged from 2009 to 2552 bp. Cluster analysis showed that they were further divided into three groups. Interesting evolutionary relationships among a few of the species were observed and discussed. Multiple sequence alignment of the 52 sequences made it possible to detect 13 insertion and deletion length polymorphisms (InDels) and 101 single nucleotide polymorphisms (SNPs). Furthermore, several species- or accession-specific SNPs or InDels were also identified. Based on BLAST analysis of the conserved sequences, the breakpoint was narrowed down to a 125 bp fragment. Taken together, the results obtained in this study enrich our understanding of chromosomal breakpoints and will be useful for the identification of other breakpoints in wheat.


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