PLAG1-HAS2 fusion in lipoblastoma with masked 8q intrachromosomal rearrangement

2005 ◽  
Vol 156 (2) ◽  
pp. 183-184 ◽  
Author(s):  
Cristina Morerio ◽  
Annamaria Rapella ◽  
Cristina Rosanda ◽  
Elisa Tassano ◽  
Claudio Gambini ◽  
...  
Author(s):  
Cathy M. Tuck-Muller ◽  
Maria Varela ◽  
Shibo Li ◽  
Gabriella Pridjian ◽  
Harold Chen ◽  
...  

Hemoglobin ◽  
1995 ◽  
Vol 19 (6) ◽  
pp. 375-388
Author(s):  
S. Rahbar ◽  
G. Nozari ◽  
G. Forrest ◽  
T. Gelbart ◽  
S. J. Forman ◽  
...  

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 5033-5033
Author(s):  
Nathalie Lannoy ◽  
Marie Ravoet ◽  
Bernard Grisart ◽  
Mathilde Fretigny ◽  
Cedric R. Hermans

Abstract Introduction F8 intron22 inversion is the causative gene defect in up to 45% of severe hemophilia A (HA) patients mediated by recombination between three highly homologous copies located in intron 22 (int22h-1) and two other extragenic copies (int22h-2 and int22h-3) positioned more telomerically outside the gene. Intrachromosomal rearrangement between int22h-1 and int22h-3 provide the F8 type 1 inversion while the F8 type 2 inversion could be explained by the participation of the int22-h2 sequence in the homologous recombination. However, a third type, known since 1993*, was explained by the existence of a duplicated copy of int22h-3 or int22h-2 in case of intron22 inversion type 3A or 3B respectively. Methods Three unrelated HA patients with intron22 type 3A/3B were identified by southern blotting. To appreciate the length of the int22h extragenic duplicated, genomic hybridisation was performed using Affimetrix CytoScan High-Density array. Results Breakpoint analyses by CGH-array in all patients show same duplication of approximately 180kb delimited between intron 1 of CLIC2 gene and distal repeat int22h-3reflecting the presence of five genomic int22 copies. A fourth non-hemophiliac case was added since analysis by CGH technique identified duplication delineated by same boundaries. Conclusion This study suggests the existence of genotypes harboring five int22h copies mediated by 180 kb duplication at Xq28 locus probably not associated with HA. We propose that this duplication has happened by tandem inversed duplication. Such genotype is to be considered as polymorphism and could be associated with the two kinds of F8 intron22 inversion type 3 when intrachromosomal recombination has occurred between homologous copies. *Antonarakis SE and the international consortium study. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 1995; 86: 2206-2212 Disclosures No relevant conflicts of interest to declare.


Genetics ◽  
1991 ◽  
Vol 129 (1) ◽  
pp. 271-283 ◽  
Author(s):  
T P Robbins ◽  
E L Walker ◽  
J L Kermicle ◽  
M Alleman ◽  
S L Dellaporta

Abstract The R complex of Zea mays encodes a tissue-specific transcriptional activator of the anthocyanin pigment biosynthetic pathway. Certain R alleles comprise two genetically distinct components that confer the plant (P) and seed (S) aspects of the pigmentation pattern. These alleles are meiotically unstable, losing (P) or (S) function, often accompanied by exchange of flanking markers. We show that the (P) component consists of a single gene within the R-r complex, whereas the (S) component is part of a more complex arrangement of multiple R genes or gene subfragments. A third, cryptic region of the complex, termed (Q), consists of a truncated R sequence. The analysis of R-r crossover derivative alleles shows they arise from unequal exchange between the (P) gene and one of several distinct regions of the R-r complex. Restriction site polymorphisms were used to show that most of these unequal exchanges are intragenic. The frequency of displaced intragenic recombination is comparable to previous estimates for intragenic recombination in maize involving genes that are not duplicated. These exchange events have been used to determine the arrangement of components within the complex and their orientation in the chromosome. We also show that localized rearrangements in the (P) or (S) components are responsible for noncrossover derivative alleles. The organization of R-r has implications for these noncrossover derivatives and models for their origin are discussed.


2016 ◽  
Vol 9 (1) ◽  
Author(s):  
Martina Rincic ◽  
Milan Rados ◽  
Zeljka Krsnik ◽  
Kristina Gotovac ◽  
Fran Borovecki ◽  
...  

2006 ◽  
Vol 37 (8) ◽  
pp. 1093-1099 ◽  
Author(s):  
C KELLER ◽  
S NANDULA ◽  
E VAKIANI ◽  
B ALOBEID ◽  
V MURTY ◽  
...  

2005 ◽  
Vol 48 (4) ◽  
pp. 454-455
Author(s):  
Sigrid Sahlén ◽  
Helena Malmgren ◽  
Anna Lindstrand ◽  
Jacqueline Schoumans ◽  
Elisabeth Blennow

2012 ◽  
Vol 159B (7) ◽  
pp. 823-828 ◽  
Author(s):  
Denise Maria Christofolini ◽  
Vera Ayres Meloni ◽  
Marco Antonio de Paula Ramos ◽  
Mariana Moysés Oliveira ◽  
Claudia Berlim de Mello ◽  
...  

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