scholarly journals Translocation Breakpoint

2020 ◽  
Author(s):  
Keyword(s):  
Translocation Breakpoint

Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323

1993 ◽  
Vol 2 (10) ◽  
pp. 1717-1718 ◽  
Author(s):  
Thomas W. Glover ◽  
Vera Verga ◽  
Jill Rafael ◽  
Christine Barcroft ◽  
Jerome L. Gorski ◽  
...  
Keyword(s):  
Translocation Breakpoint ◽  
Aarskog Syndrome

Cloning and characterization of the human t(3;6)(p14;p11) translocation breakpoint associated with hematologic malignancies

1993 ◽  
Vol 71 (1) ◽  
pp. 15-21 ◽  
Author(s):  
Scott E. Smith ◽  
Anthony Joseph ◽  
Scott Nadeau ◽  
Viji Shridhar ◽  
Robert Gemmill ◽  
...  
Keyword(s):  
Hematologic Malignancies ◽  
Translocation Breakpoint

CD3G is within 200 kb of the leukemic t(4;II) translocation breakpoint

1991 ◽  
Vol 3 (1) ◽  
pp. 44-47 ◽  
Author(s):  
Soma Das ◽  
Finbarr E. Cotter ◽  
Barbara Gibbons ◽  
Susheela Dhut ◽  
Bryan D. Young
Keyword(s):  
Translocation Breakpoint

Characterization of a fusion cDNA (RARA/myl) transcribed from the t(15;17) translocation breakpoint in acute promyelocytic leukemia

1992 ◽  
Vol 12 (2) ◽  
pp. 800-810
Author(s):  
K S Chang ◽  
S A Stass ◽  
D T Chu ◽  
L L Deaven ◽  
J M Trujillo ◽  
...  
Keyword(s):  
Cdna Library ◽  
Acute Promyelocytic Leukemia ◽  
Blot Analysis ◽  
Blot Hybridization ◽  
Promyelocytic Leukemia ◽  
Dna Probe ◽  
Translocation Breakpoint ◽  
Chromosome 15 ◽  
Dot Blot ◽  
Mrna Species

A nonrandom chromosomal translocation breakpoint, t(15;17)(q22;q21), is found in almost all patients with acute promyelocytic leukemia (APL). Most of these breakpoints occur within the second intron of the retinoic acid receptor-alpha (RARA) gene. We screened a cDNA library of APL and have identified and sequenced a cDNA transcribed from the t(15;17) translocation breakpoint. The 5' end of cDNA p1715 consists of 503 bp of the RARA exon II sequence. A 1.76-kb cDNA without homology to any known gene available in GenBank was found truncated downstream. This cDNA sequence was assigned to chromosome 15 by dot blot hybridization of the flow cytometry-sorted chromosomes. We designate this fusion cDNA RARA/myl, which is different from myl/RARA reported by de The et al. (H. de The, C. Chomienne, M. Lanotte, L. Degos, and A. Dejean, Nature (London) 347:558-561, 1990). This result demonstrates that the two different types of hybrid mRNA can be transcribed from this breakpoint. We screened a non-APL cDNA library and identified a 2.8-kb myl cDNA. This cDNA is able to encode a polypeptide with a molecular weight of 78,450. Alternative splicing of the myl gene which resulted in myl proteins with different C terminals was found. Southern blot analysis of the genomic DNA isolated from 17 APL patients by using the myl DNA probe demonstrated that the myl gene in 12 samples was rearranged. Northern (RNA) blot analysis of RARA gene expression in two APL RNA samples showed abnormal mRNA species of 4.2 and 3.2 kb in one patient and of 4.8 and 3.8 kb in another patient; these were in addition to the normal mRNA species of 3.7 and 2.7-kb. The myl DNA probe detected a 2.6-kb abnormal mRNA in addition to the normal mRNA species of 3.2, 4.2, and 5.5 kb. Using the polymerase chain reaction, we demonstrated that both RARA/myl and myl/RARA were coexpressed in samples from three different APL patients. From this study, we conclude that the t(15;17) translocation breakpoint results in the transcription of two different fusion transcripts which are expected to be translated into fusion proteins.

The NF1 Translocation Breakpoint Region

1991 ◽  
Vol 615 (1 Tuberous Scle) ◽  
pp. 319-331 ◽  
Author(s):  
PETER O'CONNELL ◽  
RICHARD M. CAWTHON ◽  
DAVID VISKOCHIL ◽  
RAY WHITE ◽  
JOHN C. CAREY ◽  
...  
Keyword(s):  
Translocation Breakpoint ◽  
Breakpoint Region

Proviral integration site Mis-1 in rat thymomas corresponds to the pvt-1 translocation breakpoint in murine plasmacytomas

1986 ◽  
Vol 6 (5) ◽  
pp. 1834-1837
Author(s):  
L Villeneuve ◽  
E Rassart ◽  
P Jolicoeur ◽  
M Graham ◽  
J M Adams
Keyword(s):  
B Lymphocyte ◽  
Integration Site ◽  
Translocation Breakpoint ◽  
Chromosome 15 ◽  
Proviral Integration ◽  
Murine Chromosome ◽  
Proviral Integration Site ◽  
Murine Homolog ◽  
T Lymphomas

Two loci independently implicated in T-and B-lymphocyte neoplasia are shown to be equivalent. The Mis-1 locus is a common proviral integration site in retrovirally induced rat T lymphomas, while the pvt-1 locus on murine chromosome 15 frequently translocates to the kappa locus in plasmacytomas bearing 6;15 translocations. By comparing cloned sequences, we show that pvt-1 is the murine homolog of Mis-1.

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism

2010 ◽  
Vol 152A (8) ◽  
pp. 2112-2114 ◽  
Author(s):  
Xin-Li Huang ◽  
Ying S. Zou ◽  
Tom A. Maher ◽  
Stephanie Newton ◽  
Jeff M. Milunsky
Keyword(s):  
De Novo ◽  
Translocation Breakpoint ◽  
Balanced Translocation ◽  
Autism Susceptibility

Cloning of the entire FL11 gene, disrupted by the Ewing’s Sarcoma translocation breakpoint on 11q24, in a yeast artificial chromosome

1994 ◽  
Vol 67 (2) ◽  
pp. 129-136 ◽  
Author(s):  
L. Selleri ◽  
M. Giovannini ◽  
A. Romo ◽  
J. Zucman ◽  
O. Delattre ◽  
...  
Keyword(s):  
Yeast Artificial Chromosome ◽  
Artificial Chromosome ◽  
Translocation Breakpoint
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