Willis T G, Jadayel D M, Du M Q, Peng H, Perry A R, Abdul-Rauf M, Price H, Karran L, Majekodunmi O, Wlodarska I, Pan L, Crook T, Hamoudi R, Isaacson P G, Dyer M J
Academic Department of Haematology and Cytogenetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom.
Cell. 1999 Jan 8;96(1):35-45. doi: 10.1016/s0092-8674(00)80957-5.
MALT B cell lymphomas with t(1;14)(p22;q32) showed a recurrent breakpoint upstream of the promoter of a novel gene, Bcl10. Bcl10 is a cellular homolog of the equine herpesvirus-2 E10 gene: both contain an amino-terminal caspase recruitment domain (CARD) homologous to that found in several apoptotic molecules. Bcl10 and E10 activated NF-kappaB but caused apoptosis of 293 cells. Bcl10 expressed in a MALT lymphoma exhibited a frameshift mutation resulting in truncation distal to the CARD. Truncated Bcl10 activated NF-kappaB but did not induce apoptosis. Wild-type Bcl10 suppressed transformation, whereas mutant forms had lost this activity and displayed gain-of-function transforming activity. Similar mutations were detected in other tumor types, indicating that Bcl10 may be commonly involved in the pathogenesis of human malignancy.
伴有t(1;14)(p22;q32)的黏膜相关淋巴组织（MALT）B细胞淋巴瘤显示出一种新基因Bcl10启动子上游的复发性断点。Bcl10是马疱疹病毒2型E10基因的细胞同源物：二者均含有一个与几种凋亡分子中发现的氨基末端半胱天冬酶募集结构域（CARD）同源的结构域。Bcl10和E10激活核因子κB（NF-κB），但导致293细胞凋亡。在一例MALT淋巴瘤中表达的Bcl10表现出一个移码突变，导致CARD远端截短。截短的Bcl10激活NF-κB，但不诱导凋亡。野生型Bcl10抑制细胞转化，而突变形式丧失了这种活性并表现出功能获得性转化活性。在其他肿瘤类型中也检测到类似突变，表明Bcl10可能普遍参与人类恶性肿瘤的发病机制。
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