Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F19%3A00070526" target="_blank" >RIV/65269705:_____/19:00070526 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14740/19:00109169
Result on the web
<a href="https://link.springer.com/article/10.1007%2Fs00277-018-3520-5" target="_blank" >https://link.springer.com/article/10.1007%2Fs00277-018-3520-5</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00277-018-3520-5" target="_blank" >10.1007/s00277-018-3520-5</a>

Result language
angličtina
Original language name
Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia
Original language description
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.
Czech name
—
Czech description
—

Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30205 - Hematology

Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Similar results(10)