Bax 2 Family Alternative Splicing Salvages Bax Microsatellite-Frameshift Mutations
نویسندگان
چکیده
منابع مشابه
Detection of Bax Microsatellite Mutations and BaxΔ2 Isoform in Human Buccal Cells
Loss of the pro-apoptotic Bcl-2 family protein Bax occurs in ~50% of hereditary nonpolyposis colorectal cancer (HNPCC) due to microsatellite instability (MSI). Recently, we found that some of the "Bax-negative" MSI tumor cells contain a functional Bax isoform, BaxΔ2, which sensitizes cells to selective chemotherapeutics. Here we show the detection of Bax microsatellite mutations and expression ...
متن کاملTGFBR2 and BAX Mononucleotide Tract Mutations, Microsatellite Instability, and Prognosis in 1072 Colorectal Cancers
BACKGROUND Mononucleotide tracts in the coding regions of the TGFBR2 and BAX genes are commonly mutated in microsatellite instability-high (MSI-high) colon cancers. The receptor TGFBR2 plays an important role in the TGFB1 (transforming growth factor-β, TGF-β) signaling pathway, and BAX plays a key role in apoptosis. However, a role of TGFBR2 or BAX mononucleotide mutation in colorectal cancer a...
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Mutations in the DNA mismatch repair (MMR) system lead to an instability of simple repetitive DNA sequences involved in several cancer types. This instability is reflected in a high mutation rate of microsatellites, and recent studies in colon cancer indicate that defects in MMR result in frequent frameshift mutations in mononucleotide repeats located in the coding regions of BAX and transformi...
متن کاملMicrosatellite Instability and Frameshift Mutations in BAX and Transforming Growth Factor-b RII Genes Are Very Uncommon in Acute Lymphoblastic Leukemia In Vivo But Not in Cell Lines
Mutations in the DNA mismatch repair (MMR) system lead to an instability of simple repetitive DNA sequences involved in several cancer types. This instability is reflected in a high mutation rate of microsatellites, and recent studies in colon cancer indicate that defects in MMR result in frequent frameshift mutations in mononucleotide repeats located in the coding regions of BAX and transformi...
متن کاملBAX ( BCL 2 - associated X protein )
The BAX gene is characterized by 5 protein coding transcripts (alpha/psi, beta, delta, epsilon, sigma). Baxbeta encodes the longest isoform (891 bp) of the gene. BAX-alpha/Bax-psi variant is 888 bp in length and codes for a protein isoform that possesses a shorter and different C terminus, as compared with the isoform BAX-beta. The third variant (BAX-delta), which is 741 bp in length, lacks exo...
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ژورنال
عنوان ژورنال: Genes & Cancer
سال: 2013
ISSN: 1947-6019,1947-6027
DOI: 10.1177/1947601913515906