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

J 2019

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

ZÁPRAŽNÁ, Kristína, Kamila RÉBLOVÁ, V. SVOBODOVA, Lenka RADOVÁ, Vojtěch BYSTRÝ et. al.

Základní údaje

Originální název

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

Autoři

ZÁPRAŽNÁ, Kristína (203 Česká republika, domácí), Kamila RÉBLOVÁ (203 Česká republika, domácí), V. SVOBODOVA (203 Česká republika), Lenka RADOVÁ (203 Česká republika, domácí), Vojtěch BYSTRÝ (203 Česká republika, domácí), Jiří BALOUN (203 Česká republika, domácí), Kristina ĎURECHOVÁ (203 Česká republika, domácí), Nikola TOM (203 Česká republika, domácí), Tomáš LOJA (703 Slovensko, domácí), Martina BUREŠOVÁ (203 Česká republika, domácí), Kamila STRÁNSKÁ (203 Česká republika, domácí), Alexandra OLTOVÁ (203 Česká republika, domácí), Michael DOUBEK (203 Česká republika, domácí), M.L. ATCHISON (840 Spojené státy), Martin TRBUŠEK (203 Česká republika, domácí), Jitka MALČÍKOVÁ (203 Česká republika, domácí) a Šárka POSPÍŠILOVÁ (203 Česká republika, garant, domácí)

Vydání

Annals of hematology, New York, Springer Verlag, 2019, 0939-5555

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30205 Hematology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.904

Kód RIV

RIV/00216224:14740/19:00109169

Organizační jednotka

Středoevropský technologický institut

DOI

http://dx.doi.org/10.1007/s00277-018-3520-5

UT WoS

000456949000018

Klíčová slova anglicky

Activation induced deaminase; Chronic lymphocytic leukemia; Complex karyotype; Alternative splicing; Trisomy 12

Štítky

14110212, CF GEN, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 15. 10. 2024 08:59, Ing. Martina Blahová

Anotace

V originále

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.

Návaznosti

LM2011020, projekt VaV

Název: CEITEC ? open access

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, CEITEC - open access

LQ1601, projekt VaV

Název: CEITEC 2020 (Akronym: CEITEC2020)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, CEITEC 2020

3SGA5792, interní kód MU

Název: Expression and function of activation-induced cytidine deaminase splice variants in normal B cell physiology and chronic lymphocytic leukemia (Akronym: AIDinCLL)

Investor: Jihomoravský kraj, Expression and function of activation-induced cytidine deaminase splice variants in normal B cell physiology and chronic lymphocytic leukemia, Reintegrační granty

90091, velká výzkumná infrastruktura

Název: NCMG

Citovat

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 a Šárka POSPÍŠILOVÁ. Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia. Annals of hematology. New York: Springer Verlag, 2019, roč. 98, č. 2, s. 423-435. ISSN 0939-5555. Dostupné z: https://dx.doi.org/10.1007/s00277-018-3520-5.

@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 a 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, roč.~98, č.~2, s.~423-435. ISSN~0939-5555. Dostupné z: https://dx.doi.org/10.1007/s00277-018-3520-5.

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