scholarly journals Fusion of the COL4A5 Gene With NR2F2-AS1 in a Hemangioma Carrying a t(X;15)(q22;q26) Chromosomal Translocation

2020 ◽  
Vol 17 (4) ◽  
pp. 383-390
Author(s):  
IOANNIS PANAGOPOULOS ◽  
LUDMILA GORUNOVA ◽  
INGVILD LOBMAIER ◽  
KRISTIN ANDERSEN ◽  
MARIUS LUND-IVERSEN ◽  
...  
Keyword(s):  
Chromosomal Translocation ◽  
Col4a5 Gene

scholarly journals ZMYND11-MBTD1 induces leukemogenesis through hijacking NuA4/TIP60 acetyltransferase complex and a PWWP-mediated chromatin association mechanism

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Jie Li ◽  
Phillip M. Galbo ◽  
Weida Gong ◽  
Aaron J. Storey ◽  
Yi-Hsuan Tsai ◽  
...  
Keyword(s):  
Histone Acetylation ◽  
Fusion Gene ◽  
Ex Vivo ◽  
Chromosomal Translocation ◽  
Regulatory Elements ◽  
Hematopoietic Stem ◽  
Its Gene ◽  
Human Acute Myeloid Leukemia ◽  
Bromodomain Proteins

AbstractRecurring chromosomal translocation t(10;17)(p15;q21) present in a subset of human acute myeloid leukemia (AML) patients creates an aberrant fusion gene termed ZMYND11-MBTD1 (ZM); however, its function remains undetermined. Here, we show that ZM confers primary murine hematopoietic stem/progenitor cells indefinite self-renewal capability ex vivo and causes AML in vivo. Genomics profilings reveal that ZM directly binds to and maintains high expression of pro-leukemic genes including Hoxa, Meis1, Myb, Myc and Sox4. Mechanistically, ZM recruits the NuA4/Tip60 histone acetyltransferase complex to cis-regulatory elements, sustaining an active chromatin state enriched in histone acetylation and devoid of repressive histone marks. Systematic mutagenesis of ZM demonstrates essential requirements of Tip60 interaction and an H3K36me3-binding PWWP (Pro-Trp-Trp-Pro) domain for oncogenesis. Inhibitor of histone acetylation-‘reading’ bromodomain proteins, which act downstream of ZM, is efficacious in treating ZM-induced AML. Collectively, this study demonstrates AML-causing effects of ZM, examines its gene-regulatory roles, and reports an attractive mechanism-guided therapeutic strategy.

Confirmation of a balanced chromosomal translocation using molecular techniques

1989 ◽  
Vol 9 (7) ◽  
pp. 505-513 ◽  
Author(s):  
R. D. Smart ◽  
A. E. Retief ◽  
Joan Overhauser
Keyword(s):  
Chromosomal Translocation ◽  
Molecular Techniques

scholarly journals RNA-sequencing identifies novelGREB1-NCOA2fusion gene in a uterine sarcoma with the chromosomal translocation t(2;8)(p25;q13)

2017 ◽  
Vol 57 (4) ◽  
pp. 176-181 ◽  
Author(s):  
Marta Brunetti ◽  
Ioannis Panagopoulos ◽  
Ludmila Gorunova ◽  
Ben Davidson ◽  
Sverre Heim ◽  
...  
Keyword(s):  
Rna Sequencing ◽  
Chromosomal Translocation ◽  
Uterine Sarcoma

Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation

Gene ◽  
2012 ◽  
Vol 502 (2) ◽  
pp. 154-158 ◽  
Author(s):  
Yao Yang ◽  
Chunzhi Wang ◽  
Fang Wang ◽  
Lina Zhu ◽  
Haihong Liu ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Chromosomal Translocation

scholarly journals Overview of Mechanisms and Consequences of Chromosomal Translocation

2008 ◽  
Vol 2008 (39) ◽  
pp. 1-1 ◽  
Author(s):  
C. S. Rabkin ◽  
S. Janz
Keyword(s):  
Chromosomal Translocation

scholarly journals Morphokinetic parameters in chromosomal translocation carriers undergoing preimplantation genetic testing

2019 ◽  
Vol 38 (2) ◽  
pp. 177-183
Author(s):  
Jenna Lammers ◽  
Arnaud Reignier ◽  
Carole Splingart ◽  
Kamran Moradkhani ◽  
Paul Barrière ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Chromosomal Translocation ◽  
Preimplantation Genetic Testing ◽  
Morphokinetic Parameters
Sign in / Sign up

Export Citation Format

Share Document