Abstract:
: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 (AIDΔE4a, AIDΔE4, AIDivs3, and AIDΔE3E4) 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 AIDΔE4, confirming its loss-of-function phenotype.
journal_name
Ann Hematoljournal_title
Annals of hematologyauthors
Zaprazna K,Reblova K,Svobodova V,Radova L,Bystry V,Baloun J,Durechova K,Tom N,Loja T,Buresova M,Stranska K,Oltova A,Doubek M,Atchison ML,Trbusek M,Malcikova J,Pospisilova Sdoi
10.1007/s00277-018-3520-5subject
Has Abstractpub_date
2019-02-01 00:00:00pages
423-435issue
2eissn
0939-5555issn
1432-0584pii
10.1007/s00277-018-3520-5journal_volume
98pub_type
杂志文章abstract::The best treatment option for patients with relapsed or high-grade follicular lymphoma (FL) is unknown. In spite of major advances in the therapy for FL, disease-free survival remains short, and median time to progression is just over a year. Autologous stem cell transplantation in patients with relapsed FL is safe an...
journal_title:Annals of hematology
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journal_title:Annals of hematology
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abstract::Cytomegalovirus (CMV) can cause end-organ diseases including pneumonia, gastroenteritis, retinitis, and encephalitis in hematopoietic stem cell transplantation recipients. Potential differences among different CMV diseases remain uncertain. This study aimed to compare the clinical characteristics, risk factors, and mo...
journal_title:Annals of hematology
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journal_title:Annals of hematology
pub_type: 临床试验,杂志文章,随机对照试验
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journal_title:Annals of hematology
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journal_title:Annals of hematology
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journal_title:Annals of hematology
pub_type: 杂志文章,多中心研究
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journal_title:Annals of hematology
pub_type: 杂志文章
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更新日期:2005-02-01 00:00:00
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journal_title:Annals of hematology
pub_type: 杂志文章,已发布勘误
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更新日期:2020-01-01 00:00:00
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journal_title:Annals of hematology
pub_type: 临床试验,杂志文章,多中心研究
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journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
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journal_title:Annals of hematology
pub_type: 临床试验,杂志文章
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journal_title:Annals of hematology
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pub_type: 杂志文章,多中心研究
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