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@article{1498916,
author = {Zápražná, Kristína and Réblová, Kamila and Svobodova, V. and Radová, Lenka and Bystrý, Vojtěch and Baloun, Jiří and Ďurechová, Kristina and Tom, Nikola and Loja, Tomáš and Burešová, Martina and Stránská, Kamila and Oltová, Alexandra and Doubek, Michael and Atchison, M.L. and Trbušek, Martin and Malčíková, Jitka and Pospíšilová, Šárka},
article_location = {New York},
article_number = {2},
doi = {http://dx.doi.org/10.1007/s00277-018-3520-5},
keywords = {Activation induced deaminase; Chronic lymphocytic leukemia; Complex karyotype; Alternative splicing; Trisomy 12},
language = {eng},
issn = {0939-5555},
journal = {Annals of hematology},
title = {Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia},
url = {https://link.springer.com/article/10.1007%2Fs00277-018-3520-5},
volume = {98},
year = {2019}
}
TY - JOUR
ID - 1498916
AU - Zápražná, Kristína - Réblová, Kamila - Svobodova, V. - Radová, Lenka - Bystrý, Vojtěch - Baloun, Jiří - Ďurechová, Kristina - Tom, Nikola - Loja, Tomáš - Burešová, Martina - Stránská, Kamila - Oltová, Alexandra - Doubek, Michael - Atchison, M.L. - Trbušek, Martin - Malčíková, Jitka - Pospíšilová, Šárka
PY - 2019
TI - Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia
JF - Annals of hematology
VL - 98
IS - 2
SP - 423-435
EP - 423-435
PB - Springer Verlag
SN - 09395555
KW - Activation induced deaminase
KW - Chronic lymphocytic leukemia
KW - Complex karyotype
KW - Alternative splicing
KW - Trisomy 12
UR - https://link.springer.com/article/10.1007%2Fs00277-018-3520-5
L2 - https://link.springer.com/article/10.1007%2Fs00277-018-3520-5
N2 - Activation-induced cytidine deaminase (AID) is a mutator enzyme essential for somatic hypermutation (SHM) and class switch recombination (CSR) during effective adaptive immune responses. Its aberrant expression and activity have been detected in lymphomas, leukemias, and solid tumors. In chronic lymphocytic leukemia (CLL) increased expression of alternatively spliced AID variants has been documented. We used real-time RT-PCR to quantify the expression of AID and its alternatively spliced transcripts (AIDE4a, AIDE4, AIDivs3, and AIDE3E4) in 149 CLL patients and correlated this expression to prognostic markers including recurrent chromosomal aberrations, the presence of complex karyotype, mutation status of the immunoglobulin heavy chain variable gene, and recurrent mutations. We report a previously unappreciated association between higher AID transcript levels and trisomy of chromosome 12. Functional analysis of AID splice variants revealed loss of their activity with respect to SHM, CSR, and induction of double-strand DNA breaks. In silico modeling provided insight into the molecular interactions and structural dynamics of wild-type AID and a shortened AID variant closely resembling AIDE4, confirming its loss-of-function phenotype.
ER -
ZÁPRAŽNÁ, Kristína, Kamila RÉBLOVÁ, V. SVOBODOVA, Lenka RADOVÁ, Vojtěch BYSTRÝ, Jiří BALOUN, Kristina ĎURECHOVÁ, Nikola TOM, Tomáš LOJA, Martina BUREŠOVÁ, Kamila STRÁNSKÁ, Alexandra OLTOVÁ, Michael DOUBEK, M.L. ATCHISON, Martin TRBUŠEK, Jitka MALČÍKOVÁ and Šárka POSPÍŠILOVÁ. Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia. \textit{Annals of hematology}. New York: Springer Verlag, 2019, vol.~98, No~2, p.~423-435. ISSN~0939-5555. Available from: https://dx.doi.org/10.1007/s00277-018-3520-5.
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